Author: "Di Donato S." / Database: OpenAIRE - Searchworks@Jio Institute Digital Library Search Results

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115 results on '"Di Donato S."'

1. Pattern of recurrence and overall survival in esophagogastric cancer after perioperative FLOT and clinical outcomes in MSI-H population: the PROSECCO Study

Author: Nappo F., Fornaro L., Pompella L., Catanese S., Lavacchi D., Spallanzani A., Cappetta A., Puzzoni M., Murgioni S., Barsotti G., Tirino G., Pellino A., Vivaldi C., Strippoli A., Aprile G., Di Donato S., Mazza E., Prisciandaro M., Antonuzzo L., Zagonel V., Cascinu S., De Vita F., Lonardi S., Nappo, F., Fornaro, L., Pompella, L., Catanese, S., Lavacchi, D., Spallanzani, A., Cappetta, A., Puzzoni, M., Murgioni, S., Barsotti, G., Tirino, G., Pellino, A., Vivaldi, C., Strippoli, A., Aprile, G., Di Donato, S., Mazza, E., Prisciandaro, M., Antonuzzo, L., Zagonel, V., Cascinu, S., De Vita, F., and Lonardi, S.
Subjects: Cancer Research, Gastro-esophageal junction adenocarcinoma, Perioperative chemotherapy, Oncology, Microsatellite instability statu, FLOT, General Medicine, Gastric cancer
Abstract: Background FLOT regimen is the standard perioperative treatment in Western countries for patients with locally advanced gastric (GC) or gastroesophageal junction cancer (GEJC). High microsatellite instability (MSI-H) and Mismatch Repair deficient (dMMR) demonstrated a favorable prognostic role and a concomitant negative predictive impact on the benefit of perioperative 5-fluorouracil-based doublets; however, its role in pts receiving FLOT chemotherapy is still unclear. Methods This is a retrospective, multicenter observational study of 265 pts with GC/GEJC treated with perioperative FLOT regimen in 11 Italian oncology centers between January 2017 to December 2021 and analyzed for microsatellite status. Results The MSI-H phenotype was found in 27 (10.2%) of 265 analyzed tumors. Compared to microsatellite stable (MSS) and Mismatch Repair proficient (pMMR) cases, MSI-H/dMMR were more frequently female (48.1% vs. 27.3%, p = 0.0424), elderly pts (age > 70 years, 44.4% vs. 13.4%, p = 0.0003), Laurens’s intestinal type (62.5% vs. 36.1%, p = 0.02) and pts with a primary location tumor in the antrum (37 vs. 14.3%, p = 0.0004). A statistically significant difference in the rate of pathologically negative lymph node emerged (63% vs 30.7%, p = 0.0018). Compared to the MSS/pMMR tumor population, the MSI-H/dMMR subgroup had a better DFS (median not reached [NR] vs. 19.5 [15.59–23.59] mos, p = 0.031) and OS (median NR vs. 34.84 [26.68–47.60] mos, p = 0.0316). Conclusions These real-world data confirm that FLOT treatment is effective in daily clinical practice for locally advanced GC/GEJC, also in the MSI-H/dMMR subgroup. It also showed a higher rate of nodal status downstaging and a better outcome of MSI-H/dMMR pts in comparison to MSS/pMMR.
Published: 2023

2. Investigation of the skin contamination predictability by means of QForm UK extrusion code

Author: Kniazkin, I., Pelaccia, R., Negozio, M., Di Donato, S., Donati, L., Reggiani, B., Biba, N., Rezvykh, R., and Kulakov, I.
Subjects: Skin Contamination, Back-End Defect, FEM, QForm Extrusion, ALE Approach
Abstract: The paper presents an innovative approach implemented in QForm UK Extrusion FEM software to analyse one of the core defects encountered in profile extrusion known as billet skin defect. The validation of the algorithm has been performed based on a number of experimental case studies taken from the literature [1,2]. Additionally, the sensitivity of the accuracy of the results to the variation in initial parameters has been analysed for both types of profile shapes: solid and hollow. Based on this, practical recommendations have been formalised for the successful industrial use of the presented algorithm.
Published: 2023

3. Experimental analysis and modeling of the recrystallization behaviour of a AA6060 extruded profile

Author: Negozio, M., Donati, L., Pelaccia, R., Reggiani, B., and Di Donato, S.
Subjects: 6XXX, FEM, Extrusion, Aluminum Alloy, Microstructure, Recrystallization
Abstract: The microstructure of Al-Mg-Si alloys is gaining nowadays an increasing industrial interest because it influences the strength, crash, corrosion and esthetic properties of the extruded profiles. In order to investigate and predict the recrystallization behaviour in the extrusion of 6XXX aluminum alloys, experimental and numerical activities are still needed. In this work, the extrusion of an industrial-scale AA6060 aluminum alloy hollow profile was carried out. An innovative recrystallization model was developed and optimized by comparing the microstructural data experimentally acquired with the outputs of the simulation performed using the Finite Element commercial code Qform Extrusion. A good correlation between numerical prediction and experimental data was found, thus proving the reliability of the proposed AA6060 recrystallization model.
Published: 2023

4. Investigation on the topological optimization of cooling channels for extrusion dies

Author: Pelaccia, R., Reggiani, B., Negozio, M., Di Donato, S., and Donati, L.
Subjects: Cooling Channels, Extrusion, Topological Optimization, Liquid Nitrogen, Dies
Abstract: During the extrusion process, high temperatures are generated, due to friction and deformation works, potentially leading to profile and die defects. Among the suggested solutions aimed at controlling the thermal field of the process, the most accredited one involves the manufacturing of cooling channels at the mating face between the die and a third plate. Despite the proven efficiency of well-designed channels, the main drawback lies in the managing of the many variables involved that strongly affect the cooling efficiency and balancing. In this frame, aim of the work is to investigate the applicability of the topological optimization tool, proposed by COMSOL Multiphysics software, for the design of cooling channels in extrusion dies. To validate the tool, an industrial case study has been selected and results compared between not optimized and optimized cooling solutions.
Published: 2023

5. Measurement of the Higgs boson production rate in association with top quarks in final states with electrons, muons, and hadronically decaying tau leptons at [Formula: see text]

Author: Sirunyan, A. M. Tumasyan, A. Adam, W. Bergauer, T. Dragicevic, M. Erö, J. Valle, A. Escalante Del Frühwirth, R. Jeitler, M. Krammer, N. Lechner, L. Liko, D. Mikulec, I. Pitters, F. M. Rad, N. Schieck, J. Schöfbeck, R. Spanring, M. Templ, S. Waltenberger, W. Wulz, C.-E. Zarucki, M. Chekhovsky, V. Litomin, A. Makarenko, V. Gonzalez, J. Suarez Darwish, M. R. De Wolf, E. A. Croce, D. Di Janssen, X. Kello, T. Lelek, A. Pieters, M. Sfar, H. Rejeb Haevermaet, H. Van Mechelen, P. Van Putte, S. Van Remortel, N. Van Blekman, F. Bols, E. S. Chhibra, S. S. D'Hondt, J. De Clercq, J. Lontkovskyi, D. Lowette, S. Marchesini, I. Moortgat, S. Morton, A. Müller, D. Python, Q. Tavernier, S. Doninck, W. Van Mulders, P. Van Beghin, D. Bilin, B. Clerbaux, B. De Lentdecker, G. Dorney, B. Favart, L. Grebenyuk, A. Kalsi, A. K. Makarenko, I. Moureaux, L. Pétré, L. Popov, A. Postiau, N. Starling, E. Thomas, L. Velde, C. Vander Vanlaer, P. Vannerom, D. Wezenbeek, L. Cornelis, T. Dobur, D. Gruchala, M. Khvastunov, I. Niedziela, M. Roskas, C. Skovpen, K. Tytgat, M. Verbeke, W. Vermassen, B. Vit, M. Bruno, G. Bury, F. Caputo, C. David, P. Delaere, C. Delcourt, M. Donertas, I. S. Faham, H. El Giammanco, A. Lemaitre, V. Mondal, K. Prisciandaro, J. Taliercio, A. Teklishyn, M. Vischia, P. Wertz, S. Wuyckens, S. Alves, G. A. Hensel, C. Moraes, A. Júnior, W. L. Aldá Chagas, E. Belchior Batista Das Malbouisson, H. Brandao Carvalho, W. Chinellato, J. Coelho, E. Da Costa, E. M. Da Silveira, G. G. De Jesus Damiao, D. De Souza, S. Fonseca Martins, J. Figueiredo, D. Matos Jaime, M. Medina Herrera, C. Mora Mundim, L. Nogima, H. Teles, P. Rebello Rosas, L. J. Sanchez Santoro, A. Amaral, S. M. Silva Do Sznajder, A. Thiel, M. Da Silva De Araujo, F. Torres Pereira, A. Vilela Bernardes, C. A. Calligaris, L. Tomei, T. R. Fernandez Perez Gregores, E. M. Lemos, D. S. Mercadante, P. G. Novaes, S. F. Padula, Sandra S. Aleksandrov, A. Antchev, G. Atanasov, I. Hadjiiska, R. Iaydjiev, P. Misheva, M. Rodozov, M. Shopova, M. Sultanov, G. Dimitrov, A. Ivanov, T. Litov, L. Pavlov, B. Petkov, P. Petrov, A. Cheng, T. Fang, W. Guo, Q. Wang, H. Yuan, L. Ahmad, M. Bauer, G. Hu, Z. Wang, Y. Yi, K. Chapon, E. Chen, G. M. Chen, H. S. Chen, M. Javaid, T. Kapoor, A. Leggat, D. Li, B. Liao, H. Liu, Z.-A. Sharma, R. Spiezia, A. Tao, J. Thomas-Wilsker, J. Wang, J. Zhang, H. Zhang, S. Zhao, J. Agapitos, A. Ban, Y. Chen, C. Huang, Q. Levin, A. Li, Q. Lu, M. Lyu, X. Mao, Y. Qian, S. J. Wang, D. Wang, Q. Xiao, J. You, Z. Gao, X. Xiao, M. Avila, C. Cabrera, A. Florez, C. Fraga, J. Sarkar, A. Delgado, M. A. Segura Jaramillo, J. Guisao, J. Mejia Ramirez, F. Alvarez, J. D. Ruiz González, C. A. Salazar Arbelaez, N. Vanegas Giljanovic, D. Godinovic, N. Lelas, D. Puljak, I. Antunovic, Z. Kovac, M. Sculac, T. Brigljevic, V. Ferencek, D. Majumder, D. Roguljic, M. Starodumov, A. Susa, T. Ather, M. W. Attikis, A. Erodotou, E. Ioannou, A. Kole, G. Kolosova, M. Konstantinou, S. Mousa, J. Nicolaou, C. Ptochos, F. Razis, P. A. Rykaczewski, H. Saka, H. Tsiakkouri, D. Finger, M. Finger, M. Jr Kveton, A. Tomsa, J. Ayala, E. Jarrin, E. Carrera Abdalla, H. Assran, Y. Khalil, S. Mahmoud, M. A. Mohammed, Y. Bhowmik, S. De Oliveira, A. Carvalho Antunes Dewanjee, R. K. Ehataht, K. Kadastik, M. Raidal, M. Veelken, C. Eerola, P. Forthomme, L. Kirschenmann, H. Osterberg, K. Voutilainen, M. Brücken, E. Garcia, F. Havukainen, J. Karimäki, V. Kim, M. S. Kinnunen, R. Lampén, T. Lassila-Perini, K. Lehti, S. Lindén, T. Siikonen, H. Tuominen, E. Tuominiemi, J. Luukka, P. Tuuva, T. Amendola, C. Besancon, M. Couderc, F. Dejardin, M. Denegri, D. Faure, J. L. Ferri, F. Ganjour, S. Givernaud, A. Gras, P. de Monchenault, G. Hamel Jarry, P. Lenzi, B. Locci, E. Malcles, J. Rander, J. Rosowsky, A. Sahin, M. Ö Savoy-Navarro, A. Titov, M. Yu, G. B. Ahuja, S. Beaudette, F. Bonanomi, M. Perraguin, A. Buchot Busson, P. Charlot, C. Davignon, O. Diab, B. Falmagne, G. de Cassagnac, R. Granier Hakimi, A. Kucher, I. Lobanov, A. Perez, C. Martin Nguyen, M. Ochando, C. Paganini, P. Rembser, J. Salerno, R. Sauvan, J. B. Sirois, Y. Zabi, A. Zghiche, A. Agram, J.-L. Andrea, J. Bloch, D. Bourgatte, G. Brom, J.-M. Chabert, E. C. Collard, C. Fontaine, J.-C. Gelé, D. Goerlach, U. Grimault, C. Bihan, A.-C. Le Hove, P. Van Asilar, E. Beauceron, S. Bernet, C. Boudoul, G. Camen, C. Carle, A. Chanon, N. Contardo, D. Depasse, P. Mamouni, H. El Fay, J. Gascon, S. Gouzevitch, M. Ille, B. Jain, Sa Laktineh, I. B. Lattaud, H. Lesauvage, A. Lethuillier, M. Mirabito, L. Torterotot, L. Touquet, G. Donckt, M. Vander Viret, S. Khvedelidze, A. Tsamalaidze, Z. Feld, L. Klein, K. Lipinski, M. Meuser, D. Pauls, A. Preuten, M. Rauch, M. P. Schulz, J. Teroerde, M. Eliseev, D. Erdmann, M. Fackeldey, P. Fischer, B. Ghosh, S. Hebbeker, T. Hoepfner, K. Keller, H. Mastrolorenzo, L. Merschmeyer, M. Meyer, A. Mocellin, G. Mondal, S. Mukherjee, S. Noll, D. Novak, A. Pook, T. Pozdnyakov, A. Rath, Y. Reithler, H. Roemer, J. Schmidt, A. Schuler, S. C. Sharma, A. Wiedenbeck, S. Zaleski, S. Dziwok, C. Flügge, G. Ahmad, W. Haj Hlushchenko, O. Kress, T. Nowack, A. Pistone, C. Pooth, O. Roy, D. Sert, H. Stahl, A. Ziemons, T. Petersen, H. Aarup Martin, M. Aldaya Asmuss, P. Babounikau, I. Baxter, S. Behnke, O. Martínez, A. Bermúdez Anuar, A. A. Bin Borras, K. Botta, V. Brunner, D. Campbell, A. Cardini, A. Connor, P. Rodríguez, S. Consuegra Danilov, V. De Wit, A. Defranchis, M. M. Didukh, L. Damiani, D. Domínguez Eckerlin, G. Eckstein, D. Eichhorn, T. Banos, L. I. Estevez Gallo, E. Geiser, A. Giraldi, A. Grohsjean, A. Guthoff, M. Harb, A. Jafari, A. Jomhari, N. Z. Jung, H. Kasem, A. Kasemann, M. Kaveh, H. Kleinwort, C. Knolle, J. Krücker, D. Lange, W. Lenz, T. Lidrych, J. Lipka, K. Lohmann, W. Madlener, T. Mankel, R. Melzer-Pellmann, I.-A. Metwally, J. Meyer, A. B. Meyer, M. Missiroli, M. Mnich, J. Mussgiller, A. Myronenko, V. Otarid, Y. Adán, D. Pérez Pflitsch, S. K. Pitzl, D. Raspereza, A. Saggio, A. Saibel, A. Savitskyi, M. Scheurer, V. Schwanenberger, C. Singh, A. Ricardo, R. E. Sosa Tonon, N. Turkot, O. Vagnerini, A. De Klundert, M. Van Walsh, R. Walter, D. Wen, Y. Wichmann, K. Wissing, C. Wuchterl, S. Zenaiev, O. Zlebcik, R. Aggleton, R. Bein, S. Benato, L. Benecke, A. De Leo, K. Dreyer, T. Ebrahimi, A. Eich, M. Feindt, F. Fröhlich, A. Garbers, C. Garutti, E. Gunnellini, P. Haller, J. Hinzmann, A. Karavdina, A. Kasieczka, G. Klanner, R. Kogler, R. Kutzner, V. Lange, J. Lange, T. Malara, A. Niemeyer, C. E. N. Nigamova, A. Rodriguez, K. J. Pena Rieger, O. Schleper, P. Schumann, S. Schwandt, J. Schwarz, D. Sonneveld, J. Stadie, H. Steinbrück, G. Vormwald, B. Zoi, I. Bechtel, J. Berger, T. Butz, E. Caspart, R. Chwalek, T. De Boer, W. Dierlamm, A. Droll, A. Morabit, K. El Faltermann, N. Flöh, K. Giffels, M. Gottmann, A. Hartmann, F. Heidecker, C. Husemann, U. Katkov, I. Keicher, P. Koppenhöfer, R. Maier, S. Metzler, M. Mitra, S. Müller, Th Musich, M. Quast, G. Rabbertz, K. Rauser, J. Savoiu, D. Schäfer, D. Schnepf, M. Schröder, M. Seith, D. Shvetsov, I. Simonis, H. J. Ulrich, R. Wassmer, M. Weber, M. Wolf, R. Wozniewski, S. Anagnostou, G. Asenov, P. Daskalakis, G. Geralis, T. Kyriakis, A. Loukas, D. Paspalaki, G. Stakia, A. Diamantopoulou, M. Karasavvas, D. Karathanasis, G. Kontaxakis, P. Koraka, C. K. Manousakis-Katsikakis, A. Panagiotou, A. Papavergou, I. Saoulidou, N. Theofilatos, K. Tziaferi, E. Vellidis, K. Vourliotis, E. Bakas, G. Kousouris, K. Papakrivopoulos, I. Tsipolitis, G. Zacharopoulou, A. Evangelou, I. Foudas, C. Gianneios, P. Katsoulis, P. Kokkas, P. Manitara, K. Manthos, N. Papadopoulos, I. Strologas, J. Bartók, M. Csanad, M. Gadallah, M. M. A. Lökös, S. Major, P. Mandal, K. Mehta, A. Pasztor, G. Surányi, O. Veres, G. I. Bencze, G. Hajdu, C. Horvath, D. Sikler, F. Veszpremi, V. Vesztergombi, G. Czellar, S. Karancsi, J. Molnar, J. Szillasi, Z. Teyssier, D. Raics, P. Trocsanyi, Z. L. Zilizi, G. Csorgo, T. Nemes, F. Novak, T. Choudhury, S. Komaragiri, J. R. Kumar, D. Panwar, L. Tiwari, P. C. Bahinipati, S. Dash, D. Kar, C. Mal, P. Mishra, T. Bindhu, V. K. Muraleedharan Nair Nayak, A. Sahoo, D. K. Sur, N. Swain, S. K. Bansal, S. Beri, S. B. Bhatnagar, V. Chaudhary, G. Chauhan, S. Dhingra, N. Gupta, R. Kaur, A. Kaur, S. Kumari, P. Meena, M. Sandeep, K. Sharma, S. Singh, J. B. Virdi, A. K. Ahmed, A. Bhardwaj, A. Choudhary, B. C. Garg, R. B. Gola, M. Keshri, S. Kumar, A. Naimuddin, M. Priyanka, P. Ranjan, K. Shah, A. Bharti, M. Bhattacharya, R. Bhattacharya, S. Bhowmik, D. Dutta, S. Ghosh, S. Gomber, B. Maity, M. Nandan, S. Palit, P. Rout, P. K. Saha, G. Sahu, B. Sarkar, S. Sharan, M. Singh, B. Thakur, S. Behera, P. K. Behera, S. C. Kalbhor, P. Muhammad, A. Pradhan, R. Pujahari, P. R. Sharma, A. Sikdar, A. K. Dutta, D. Kumar, V. Naskar, K. Netrakanti, P. K. Pant, L. M. Shukla, P. Aziz, T. Bhat, M. A. Dugad, S. Verma, R. Kumar Mohanty, G. B. Sarkar, U. Banerjee, S. Bhattacharya, S. Chatterjee, S. Chudasama, R. Guchait, M. Karmakar, S. Kumar, S. Majumder, G. Mazumdar, K. Mukherjee, S. Roy, D. Dube, S. Kansal, B. Maurya, M. K. Pandey, S. Rane, A. Rastogi, A. Sharma, S. Bakhshiansohi, H. Zeinali, M. Chenarani, S. Etesami, S. M. Khakzad, M. Najafabadi, M. Mohammadi Felcini, M. Grunewald, M. Abbrescia, M. Aly, R. Aruta, C. Colaleo, A. Creanza, D. De Filippis, N. De Palma, M. Florio, A. Di Pilato, A. Di Elmetenawee, W. Fiore, L. Gelmi, A. Gul, M. Iaselli, G. Ince, M. Lezki, S. Maggi, G. Maggi, M. Margjeka, I. Mastrapasqua, V. Merlin, J. A. My, S. Nuzzo, S. Pompili, A. Pugliese, G. Ranieri, A. Selvaggi, G. Silvestris, L. Simone, F. M. Venditti, R. Verwilligen, P. Abbiendi, G. Battilana, C. Bonacorsi, D. Borgonovi, L. Braibant-Giacomelli, S. Campanini, R. Capiluppi, P. Castro, A. Cavallo, F. R. Ciocca, C. Cuffiani, M. Dallavalle, G. M. Diotalevi, T. Fabbri, F. Fanfani, A. Fontanesi, E. Giacomelli, P. Giommi, L. Grandi, C. Guiducci, L. Iemmi, F. Meo, S. Lo Marcellini, S. Masetti, G. Navarria, F. L. Perrotta, A. Primavera, F. Rossi, A. M. Rovelli, T. Siroli, G. P. Tosi, N. Albergo, S. Costa, S. Mattia, A. Di Potenza, R. Tricomi, A. Tuve, C. Barbagli, G. Cassese, A. Ceccarelli, R. Ciulli, V. Civinini, C. D'Alessandro, R. Fiori, F. Focardi, E. Latino, G. Lenzi, P. Lizzo, M. Meschini, M. Paoletti, S. Seidita, R. Sguazzoni, G. Viliani, L. Benussi, L. Bianco, S. Piccolo, D. Bozzo, M. Ferro, F. Mulargia, R. Robutti, E. Tosi, S. Benaglia, A. Beschi, A. Brivio, F. Cetorelli, F. Ciriolo, V. De Guio, F. Dinardo, M. E. Dini, P. Gennai, S. Ghezzi, A. Govoni, P. Guzzi, L. Malberti, M. Malvezzi, S. Massironi, A. Menasce, D. Monti, F. Moroni, L. Paganoni, M. Pedrini, D. Ragazzi, S. de Fatis, T. Tabarelli Valsecchi, D. Zuolo, D. Buontempo, S. Cavallo, N. De Iorio, A. Fabozzi, F. Fienga, F. Iorio, A. O. M. Lista, L. Meola, S. Paolucci, P. Rossi, B. Sciacca, C. Voevodina, E. Azzi, P. Bacchetta, N. Bisello, D. Bortignon, P. Bragagnolo, A. Carlin, R. Checchia, P. De Castro Manzano, P. Dorigo, T. Gasparini, F. Gasparini, U. Hoh, S. Y. Layer, L. Margoni, M. Meneguzzo, A. T. Presilla, M. Ronchese, P. Rossin, R. Simonetto, F. Strong, G. Tosi, M. Yarar, H. Zanetti, M. Zotto, P. Zucchetta, A. Zumerle, G. Aime', C. Braghieri, A. Calzaferri, S. Fiorina, D. Montagna, P. Ratti, S. P. Re, V. Ressegotti, M. Riccardi, C. Salvini, P. Vai, I. Vitulo, P. Biasini, M. Bilei, G. M. Ciangottini, D. Fanò, L. Lariccia, P. Mantovani, G. Mariani, V. Menichelli, M. Moscatelli, F. Piccinelli, A. Rossi, A. Santocchia, A. Spiga, D. Tedeschi, T. Androsov, K. Azzurri, P. Bagliesi, G. Bertacchi, V. Bianchini, L. Boccali, T. Castaldi, R. Ciocci, M. A. Dell'Orso, R. Domenico, M. R. Di Donato, S. Giannini, L. Giassi, A. Grippo, M. T. Ligabue, F. Manca, E. Mandorli, G. Messineo, A. Palla, F. Ramirez-Sanchez, G. Rizzi, A. Rolandi, G. Chowdhury, S. Roy Scribano, A. Shafiei, N. Spagnolo, P. Tenchini, R. Tonelli, G. Turini, N. Venturi, A. Verdini, P. G. Cavallari, F. Cipriani, M. Re, D. Del Marco, E. Di Diemoz, M. Longo, E. Meridiani, P. 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W. Negro, G. Neumeister, N. Peng, C. C. Piperov, S. Purohit, A. Qiu, H. Schulte, J. F. Stojanovic, M. Trevisani, N. Wang, F. Wildridge, A. Xiao, R. Xie, W. Dolen, J. Parashar, N. Baty, A. Dildick, S. Ecklund, K. M. Freed, S. Geurts, F. J. M. Kilpatrick, M. Kumar, A. Li, W. Padley, B. P. Redjimi, R. Roberts, J. Rorie, J. Shi, W. Leiton, A. G. Stahl Bodek, A. de Barbaro, P. Demina, R. Dulemba, J. L. Fallon, C. Ferbel, T. Galanti, M. Garcia-Bellido, A. Hindrichs, O. Khukhunaishvili, A. Ranken, E. Taus, R. Chiarito, B. Chou, J. P. Gandrakota, A. Gershtein, Y. Halkiadakis, E. Hart, A. Heindl, M. Hughes, E. Kaplan, S. Karacheban, O. Laflotte, I. Lath, A. Montalvo, R. Nash, K. Osherson, M. Salur, S. Schnetzer, S. Somalwar, S. Stone, R. Thayil, S. A. Thomas, S. Wang, H. Acharya, H. Delannoy, A. G. Spanier, S. Bouhali, O. Dalchenko, M. Delgado, A. Eusebi, R. Gilmore, J. Huang, T. Kamon, T. Kim, H. Luo, S. Malhotra, S. Mueller, R. Overton, D. Perniè, L. Rathjens, D. Safonov, A. Akchurin, N. Damgov, J. Hegde, V. Kunori, S. Lamichhane, K. Lee, S. W. Mengke, T. Muthumuni, S. Peltola, T. Undleeb, S. Volobouev, I. Wang, Z. Whitbeck, A. Appelt, E. Greene, S. Gurrola, A. Janjam, R. Johns, W. Maguire, C. Melo, A. Ni, H. Padeken, K. Romeo, F. Sheldon, P. Tuo, S. Velkovska, J. Arenton, M. W. Cox, B. Cummings, G. Hakala, J. Hirosky, R. Joyce, M. Ledovskoy, A. Li, A. Neu, C. Tannenwald, B. Wang, Y. Wolfe, E. Xia, F. Karchin, P. E. Poudyal, N. Thapa, P. Black, K. Bose, T. Buchanan, J. Caillol, C. Dasu, S. De Bruyn, I. Everaerts, P. Galloni, C. He, H. Herndon, M. Hervé, A. Hussain, U. Lanaro, A. Loeliger, A. Loveless, R. Sreekala, J. Madhusudanan Mallampalli, A. Pinna, D. Savin, A. Shang, V. Sharma, V. Smith, W. H. Teague, D. Trembath-Reichert, S. Vetens, W.
Subjects: High Energy Physics::Phenomenology, High Energy Physics::Experiment
Abstract: The rate for Higgs ( H ) bosons production in association with either one ( tH ) or two ( tt¯H ) top quarks is measured in final states containing multiple electrons, muons, or tau leptons decaying to hadrons and a neutrino, using proton-proton collisions recorded at a center-of-mass energy of 13 TeV by the CMS experiment. The analyzed data correspond to an integrated luminosity of 137 fb-1 . The analysis is aimed at events that contain H → WW , H → ττ , or H → ZZ decays and each of the top quark(s) decays either to lepton+jets or all-jet channels. Sensitivity to signal is maximized by including ten signatures in the analysis, depending on the lepton multiplicity. The separation among tH , tt¯H , and the backgrounds is enhanced through machine-learning techniques and matrix-element methods. The measured production rates for the tt¯H and tH signals correspond to 0.92 ± 0.19 (stat)-0.13+0.17 (syst) and 5.7 ± 2.7 (stat) ± 3.0 (syst) of their respective standard model (SM) expectations. The corresponding observed (expected) significance amounts to 4.7 (5.2) standard deviations for tt¯H , and to 1.4 (0.3) for tH production. Assuming that the Higgs boson coupling to the tau lepton is equal in strength to its expectation in the SM, the coupling yt of the Higgs boson to the top quark divided by its SM expectation, κt = yt/ytSM , is constrained to be within - 0.9 {\textless} κt {\textless} - 0.7 or 0.7 {\textless} κt {\textless} 1.1 , at 95\% confidence level. This result is the most sensitive measurement of the tt¯H production rate to date.
Published: 2021

6. A validated prognostic classifier for V600EBRAF-mutated metastatic colorectal cancer: the ‘BRAF BeCool’ study

Author: Loupakis F., Intini R., Cremolini C., Orlandi A., Sartore-Bianchi A., Pietrantonio F., Pella N., Spallanzani A., Dell'Aquila E., Scartozzi M., De Luca E., Rimassa L., Formica V., Leone F., Calvetti L., Aprile G., Antonuzzo L., Urbano F., Prenen H., Negri F., Di Donato S., Buonandi P., Tomasello G., Avallone A., Zustovich F., Moretto R., Antoniotti C., Salvatore L., Calegari M. A., Siena S., Morano F., Ongaro E., Cascinu S., Santini D., Ziranu P., Schirripa M., Buggin F., Prete A. A., Depetris I., Biason P., Lonardi S., Zagonel V., Fassan M., Di Maio M., Loupakis, F., Intini, R., Cremolini, C., Orlandi, A., Sartore-Bianchi, A., Pietrantonio, F., Pella, N., Spallanzani, A., Dell'Aquila, E., Scartozzi, M., De Luca, E., Rimassa, L., Formica, V., Leone, F., Calvetti, L., Aprile, G., Antonuzzo, L., Urbano, F., Prenen, H., Negri, F., Di Donato, S., Buonandi, P., Tomasello, G., Avallone, A., Zustovich, F., Moretto, R., Antoniotti, C., Salvatore, L., Calegari, M. A., Siena, S., Morano, F., Ongaro, E., Cascinu, S., Santini, D., Ziranu, P., Schirripa, M., Buggin, F., Prete, A. A., Depetris, I., Biason, P., Lonardi, S., Zagonel, V., Fassan, M., and Di Maio, M.
Subjects: Adult, Male, Proto-Oncogene Proteins B-raf, Scoring system, DNA Mutational Analysis, Metastases, V600E, BRAF, Colorectal cancer, Prognostic markers, Risk Assessment, Young Adult, Predictive Value of Tests, Risk Factors, Biomarkers, Tumor, Humans, Genetic Predisposition to Disease, Neoplasm Metastasis, Aged, Retrospective Studies, Aged, 80 and over, Middle Aged, Prognosis, Phenotype, Italy, Mutation, Female, Colorectal Neoplasms
Abstract: Background: Despite the well-known negative prognostic value of the V600EBRAF mutation in patients with metastatic colorectal cancer (mCRC), its outcome is quite heterogeneous, and the basis for this prognostic heterogeneity should be better defined. Methods: Two large retrospective series of V600EBRAF-mutated mCRC from 22 institutions served as an exploratory and validation set to develop a prognostic score. The model was internally and externally validated. Results: A total of 395 V600EBRAF-mutated mCRCs were included in the exploratory set. Performance status, CA19.9, lactate dehydrogenase, neutrophil/lymphocyte ratio, grading and liver, lung and nodal involvement emerged as independent prognostic factors for overall survival (OS). Two different scoring systems were built: a ‘complete’ score (0–16) including all significant covariates and a ‘simplified’ score (0–9), based only on clinicopathological covariates, and excluding laboratory values. Adopting the complete score, proportions of patients with a low (0–4), intermediate (5–8) and high (9–16) score were 44.7%, 42.6% and 12.6%, respectively. The median OS was 29.6, 15.5 (hazard ratio [HR] for intermediate vs low risk: 2.16, 95% confidence interval [CI]: 1.44–3.22, p < .001) and 6.6 months (HR for high vs low risk: 4.72, 95% CI: 2.72–8.20, p < .001). Similar results were observed also after adjusting for the type of first-line treatment and adopting the simplified score. The simplified prognostic score derived from the exploratory set was then applied to the validation set for external confirmation. Conclusions: These scoring systems are based on easy-to-collect data and defined specific subgroups with relevant differences in their life expectancy. These tools could be useful in clinical practice, would allow better stratification of patients in clinical trials and may be adopted for proper adjustments in exploratory translational analyses.
Published: 2019

7. 12 Group

Author: PITZALIS E, BELARDO C, DE FELICE R, DI DONATO S, NATALE A, RUSSO M, AA. VV., Gelvi M, Tavoletta C, Pitzalis, E, Belardo, C, DE FELICE, R, DI DONATO, S, Natale, A, and Russo, M
Published: 2018

8. Erratum to: Outcomes of Advanced Gastric Cancer Patients Treated with at Least Three Lines of Systemic Chemotherapy (The Oncologist, (2017), 22, 12, (1463-1469), 10.1634/theoncologist.2017-0158)

Author: Fanotto, V., Uccello, M., Pecora, I., Rimassa, L., Leone, F., Rosati, G., Santini, D., Giampieri, R., Di Donato, S., Tomasello, G., Silvestris, N., Pietrantonio, F., Battaglin, F., Avallone, A., Scartozzi, M., Lutrino, E. S., Melisi, D., Antonuzzo, L., Pellegrino, A., Ferrari, L., Bordonaro, R., Vivaldi, C., Gerratana, L., Bozzarelli, S., Filippi, R., Bilancia, D., Russano, M., and Aprile, G.
Published: 2018

9. Massullo 2.0 Wokshop_Laboratorio di Progettazione Intensiva. Intensive Design Workshop

Author: PITZALIS, Efisio, BELARDO C, DE FELICE R, DI DONATO S, NATALE A, RUSSO M., AA. VV., Gelvi M, Tavoletta C, Pitzalis, Efisio, Belardo, C, DE FELICE, R, DI DONATO, S, Natale, A, and Russo, M.
Published: 2016

10. Suicidal ideation in a European Huntington's disease population

Author: Hubers, Aa, van Duijn, E, Roos, Ra, Craufurd, D, Rickards, H, Bernhard Landwehrmeyer, G, van der Mast RC, Giltay, Ej, Bachoud Lévi AC, Bentivoglio, Ar, Biunno, I, Bonelli, Rm, Burgunder, Jm, Dunnett, Sb, Ferreira, Jj, Handley, Oj, Heiberg, A, Llmann, Ti, Landwehrmeyer, Gb, Levey, J, Ramos Arroyo MA, Nielsen, Je, Prokoivisto, S, Päivärinta, M, Rojo Sebastián, A, Tabrizi, Sj, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlström, J, Barth, K, Correia Guedes, L, Finisterra, Am, Garde, Mb, Bos, R, Betz, S, Callaghan, J, Fullam, R, Ecker, D, Nielsen, Mg, Hvalstedt, C, Held, C, Koppers, K, Laurà, M, Horta, Sm, Descals, Am, Mestre, T, Minster, S, Monza, D, Mütze, L, Oehmen, M, Townhill, J, Orth, M, Padieu, H, Paterski, L, Peppa, N, Pro Koivisto, S, Roedig, V, Rialland, A, Røren, N, Šašinková, P, Seliverstov, Y, Cubillo, Pt, Walsem, Mr, Wright, A, da Silva WV, Witjes Ané MN, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Herranhof, B, Holl, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Scheibl, M, Hecht, K, Lilek, S, Müller, N, Schöggl, H, Ullah, J, Brugger, F, Hepperger, C, Hotter, A, Seppi, K, Wenning, G, Buratti, L, Hametner, Em, Holas, C, Hussl, A, Poewe, W, Braunwarth, Em, Sprenger, F, Müller, C, Sinadinosa, D, Walleczek, Am, Ladurner, G, Staffen, W, Flamez, A, Morez, V, de Raedt, S, Boogaerts, A, van Reijen, D, Klempíř, J, Majerová, V, Roth, J, Hartikainen, P, Hiivola, H, Martikainen, K, Tuuha, K, Ignatius, J, Kärppä, M, Åman, J, Mustonen, A, Kajula, O, Santala, M, Allain, P, Guérid, Ma, Gohier, B, Olivier, A, Prundean, A, Scherer Gagou, C, Verny, C, Bost, M, Babiloni, B, Debruxelles, S, Duché, C, Goizet, C, Lafoucrière, D, Jameau, L, Spampinato, U, De Bruycker, C, Cabaret, M, Carette, As, Defebvre, L, Decorte, E, Delval, A, Delliaux, M, Destee, A, Dujardin, K, Peter, M, Plomhouse, L, Sablonnière, B, Simonin, C, Lemaire, Mh, Manouvrier, S, Thibault Tanchou, S, Vuillaume, I, Krystkowiak, P, Duru, C, Roussel, M, Wannepain, S, Berrissoul, H, Bellonet, M, Courtin, F, Mantaux, B, Fasquel, V, Godefroy, O, Azulay, Jp, Fluchère, F, Delfini, M, Eusebio, A, Mundler, L, Longato, N, Rudolf, G, Steinmetz, G, Tranchant, C, Wagner, C, Zimmermann, M, Marcel, C, Calvas, F, Pariente, J, Démonet, Jf, Cheriet, S, Kosinski, Cm, Milkereit, E, Probst, D, Reetz, K, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Gelderblom, H, Priller, J, Prüß, H, Spruth, Ej, Andrich, J, Ellrichmann, G, Hoffmann, R, Kaminski, B, Saft, C, Stamm, C, Lange, H, Bosredon, C, Maass, A, Schmidt, S, Storch, A, Wolz, M, Kohl, Z, Winkler, J, Capetian, P, Lambeck, J, Zucker, B, Boelmans, K, Ganos, C, Goerendt, I, Hidding, U, Lewerenz, J, Münchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Diercks, G, Dressler, D, Gorzolla, H, Schrader, C, Tacik, P, Heinicke, W, Longinus, B, Bürk, K, Möller, Jc, Rissling, I, Mühlau, M, Peinemann, A, Städtler, M, Weindl, A, Winkelmann, J, Ziegler, C, Bohlen, S, Hölzner, E, Reilmann, R, Dose, M, Leythaeuser, G, Marquard, R, Raab, T, Schrenk, C, Schuierer, M, Buck, A, Connemann, J, Eschenbach, C, Landwehrmeyer, B, Lezius, F, Nepper, S, Niess, A, Schwenk, D, Süßmuth, S, Trautmann, S, Weydt, P, Cormio, C, Sciruicchio, V, Serpino, C, Tommaso, M, Capellari, S, Cortelli, P, Gallassi, R, Poda, R, Rizzo, G, Scaglione, C, Bertini, E, Ghelli, E, Ginestroni, A, Massaro, F, Mechi, C, Paganini, M, Piacentini, S, Pradella, S, Romoli, Am, Sorbi, S, Abbruzzese, G, di Poggio MB, Di Maria, E, Ferrandes, G, Mandich, P, Marchese, R, Albanese, A, Di Bella, D, Di Donato, S, Gellera, C, Genitrini, S, Mariotti, C, Nanetti, L, Paridi, D, Soliveri, P, Tomasello, C, De Michele, G, Di Maio, L, Salvatore, E, Rinaldi, C, Rossi, F, Massarelli, M, Roca, A, Ammendola, S, Russo, Cv, Squitieri, F, Elifani, F, Maglione, V, Di Pardo, A, Alberti, S, Griguoli, A, Amico, E, Martino, T, Petrollini, M, Catalli, C, Di Giacopo, R, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Piano, C, Chiara, P, Quaranta, D, Romano, Silvia, Soleti, F, Spadaro, M, Romano, S, van Hout MS, van Vugt JP, Weert, A, Bolwijn, J, Dekker, M, Leenders, K, Kremer, Hp, Dumas, Em, van den Bogaard SJ, 't Hart EP, Økland, E, Hauge, E, Tyvoll, H, Frich, J, Aaserud, O, Wehus, R, Bjørgo, K, Fannemel, M, Gørvell, P, Lorentzen, E, Koivisto, Sp, Retterstøl, L, Overland, T, Stokke, B, Sando, B, Dziadkiewicz, A, Nowak, M, Robowski, P, Sitek, E, Slawek, J, Soltan, W, Szinwelski, M, Blaszcyk, M, Boczarska Jedynak, M, Ciach Wysocka, E, Gorzkowska, A, Jasinska Myga, B, Opala, G, Kłodowska Duda, G, Stompel, D, Banaszkiewicz, K, Boćwińska, D, Szczudlik, A, Rudzińska, M, Wójcik, M, Dec, M, Krawczyk, M, Jaremek, Kb, Szczygieł, E, Stenwak, A, Ielewska, Aw, Bryl, A, Ciesielska, A, Klimberg, A, Marcinkowski, J, Sempołowicz, J, Samara, H, Wiśniewski, B, Janik, P, Gogol, A, Kwiecinski, H, Jamrozik, Z, Kaminska, A, Antczak, J, Jachinska, K, Rakowicz, M, Richter, P, Rola, R, Ryglewicz, D, Sienkiewicz Jarosz, H, Stępniak, I, Witkowski, G, Zdzienicka, E, Sułek, A, Krysa, W, Zieora Jakutowicz, K, Júlio, F, Januário, C, Coelho, M, Mendes, T, Valadas, A, Timóteo, Â, Costa, C, Cavaco, S, Damásio, J, Loureiro, R, Magalhães, M, Andrade, C, Gago, M, Garrett, C, Guerra, Mr, Lima, J, Massano, J, Meireles, J, Herrera, Cd, Garcia, Pm, Barrero, F, Morales, B, Cubo, E, Mariscal, N, Sánchez, J, Alonso Frech, F, Perez, Mr, Fenollar, M, García, Rg, Quiroga, Pp, Rivera, Sv, Villanueva, C, Alegre, J, Bascuñana, M, Caldentey, Jg, Ventura, Mf, Ribas, Gg, Yébenes, Jg, López Sendón Moreno JL, García Ruíz PJ, Martínez Descals, A, Artiga, Mj, Sánchez, V, Guerrero, R, Bárcenas, Ah, Noguera Perea MF, Fortuna, L, Martirio, M, Torres, A, Reinante, G, Moreau, Lv, Barbera, Ma, Guia, Db, Hernanz, Lc, Catena, Jl, Sebastián, Ar, Ferrer, Pq, Carruesco, Gt, Bas, J, Busquets, N, Calopa, M, Elorza, Md, Díez AjaLópez, C, Terol, Sd, Robert, Mf, Ruíz, Bg, Casado, Ag, Martínez, Ih, Viladrich, Cm, Càrdenas, Rp, Roca, E, Llesoy, Jr, Idiago, Jm, Vergara, Mr, García, Ss, Riballo, Av, González, Sg, Guisasola, Lm, Salvador, C, San Martín ES, González, M, Gorospe, A, Legarda, I, Arques, Pn, Torres Rodríguez MJ, Vives, B, Gaston, I, Martinez Jaurrieta MD, Manuel, J, Moreno, G, Peña, Jc, Avarvarei, Ld, Bastida, Am, Recio, Mf, Vergé, Lr, Sánchez, Vs, Carrillo, F, Cáceres, Mt, Mir, P, Suarez, Mj, Bosca, M, Burguera, Ja, Garcia, Ac, Brugada, Fc, Martínez, Lm, Val, Jl, Loutfi, G, Olofsson, C, Stattin, El, Westman, L, Wikström, B, Lhagen, Se, Paucar, M, Svenningsson, P, Reza Soltani TW, Höglund, A, Sandström, B, Høsterey Ugander, U, Fredlund, G, Constantinescu, R, Neleborn Lingefjärd, L, Tedr off, J, Esmaeilzadeh, M, Winnberg, E, Pålhagen, S, Svennigsson, P, Riza Soltani TW, Sundblom, J, Johansson, A, Wiklund, L, Ekwall, C, Göller, Ml, Petersén, A, Reimer, J, Widner, H, Stebler, Y, Kaelin, A, Romero, I, Schüpbach, M, Weber, S, Miedzybrodzka, Z, Rae, D, Downie, L, Simpson, S, Summers, F, Ure, A, Jack, R, Matheson, K, Akhtar, S, Crooks, J, Curtis, A, Souza, J, Wright, J, Hayward, B, Sieradzan, K, Barker, Ra, O'Keefe, D, Di Pietro, A, Fisher, K, Hill, S, Mason, S, Swain, R, Valle, N, Guzman, Bisson, J, Busse, M, Butcher, C, Clenaghan, C, Dunnett, S, Handley, O, Hunt, S, Hughes, A, Johnstone, C, Jones, L, Jones, U, Khalil, H, Owen, M, Price, K, Rose, Le, Rosser, A, Porteous, M, Edwards, M, Ho, C, Mcgill, M, Pearson, P, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Rothery, J, Thomas, G, Yates, S, Miller, J, Ritchie, S, Burrows, L, Fletcher, A, Harding, A, Laver, F, Silva, M, Thomson, A, Rowett, L, Gallantrae, D, Longthorpe, M, Markova, I, Raman, A, Hamer, S, Wild, S, Yarduiman, P, Chu, C, Kraus, A, Yardumian, P, Musgrave, H, Toscano, J, Jamieson, S, Hobson, E, Clayton, C, Dipple, H, Middleton, J, Freire Patino, D, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Laing, H, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Santhouse, A, Patton, M, Peterson, M, Rose, S, Bruno, S, Chu, E, Doherty, K, Haider, S, Hensman, D, Lahiri, N, Lewis, M, Novak, M, Patel, A, Robertson, N, Rosser, E, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Howard, L, Sollom, A, Snowden, J, Thompson, J, Jones, M, Murphy, H, Trender Gerhard, I, Rogers, D, Bek, J, Oughton, E, Johnson, L, Hare, M, Arran, N, Verstraelen, N, Partington Jones, L, Huson, S, Stopford, C, Westmoreland, L, Davidson, J, Morgan, K, Savage, L, Singh, B, Komati, S, Nemeth, Ah, Armstrong, R, Valentine, R, Siuda, G, Harrison, D, Hughes, M, Parkinson, A, Soltysiak, B, Burn, J, Coleman, C, Bandmann, O, Bradbury, A, Gill, P, Fairtlough, H, Fillingham, K, Foustanos, I, Kazoka, M, O'Donovan, K, Taylor, C, Tidswell, K, Quarrell, O., Laboratoire de Psychologie des Pays de la Loire (LPPL), Université d'Angers (UA)-Université de Nantes - UFR Lettres et Langages (UFRLL), Université de Nantes (UN)-Université de Nantes (UN), A. A., M, E. v., Duijn, R. A., C, D., Craufurd, H., Rickard, G. B., Landwehrmeyer, R. C., Van, E. J., Giltay, R. E., G., Rinaldi, Carlo, Anna A.M. Huber, Erik van Duijn, Raymund A.C. Roo, David Craufurd, Hugh Rickard, G. Bernhard Landwehrmeyer, Rose C. van der Mast, Erik J. Giltay REGISTRY investigators of the European Huntington's Disease Network. Collaborators: Bachoud-Lévi AC, Bentivoglio AR, Biunno I, Bonelli RM, Burgunder JM, Dunnett SB, Ferreira JJ, Handley OJ, Heiberg A, llmann TI, Landwehrmeyer GB, Levey J, Ramos-Arroyo MA, Nielsen JE, ProKoivisto S, Päivärinta M, Roos RA, Rojo Sebastián A, Tabrizi SJ, Vandenberghe W, Verellen- Dumoulin C, Zaremba J, Uhrova T, Wahlström J, Barth K, Correia-Guedes L, Finisterra AM, Garde MB, Bos R, Betz S, Callaghan J, Fullam R, Ecker D, Nielsen MG, Hvalstedt C, Held C, Koppers K, Laurà M, Horta SM, Descals AM, Mestre T, Minster S, Monza D, Mütze L, Oehmen M, Townhill J, Orth M, Padieu H, Paterski L, Peppa N, Pro Koivisto S, Roedig V, Rialland A, Røren N, Šašinková P, Seliverstov Y, Cubillo PT, Walsem MR, Wright A, da Silva WV, Witjes-Ané MN, Yudina E, Zielonka D, Zielonka E, Zinzi P, Herranhof B, Holl A, Kapfhammer HP, Koppitz M, Magnet M, Otti D, Painold A, Reisinger K, Scheibl M, Hecht K, Lilek S, Müller N, Schöggl H, Ullah J, Brugger F, Hepperger C, Hotter A, Seppi K, Wenning G, Buratti L, Hametner EM, Holas C, Hussl A, Poewe W, Braunwarth EM, Sprenger F, Müller C, Sinadinosa D, Walleczek AM, Ladurner G, Staffen W, Flamez A, Morez V, de Raedt S, Boogaerts A, van Reijen D, Klempíř J, Majerová V, Roth J, Hartikainen P, Hiivola H, Martikainen K, Tuuha K, Ignatius J, Kärppä M, Åman J, Mustonen A, Kajula O, Santala M, Allain P, Guérid MA, Gohier B, Olivier A, Prundean A, Scherer- Gagou C, Verny C, Bost M, Babiloni B, Debruxelles S, Duché C, Goizet C, Lafoucrière D, Jameau L, Spampinato U, De Bruycker C, Cabaret M, Carette AS, Defebvre L, Decorte E, Delval A, Delliaux M, Destee A, Dujardin K, Peter M, Plomhouse L, Sablonnière B, Simonin C, Lemaire MH, Manouvrier S, Thibault-Tanchou S, Vuillaume I, Krystkowiak P, Duru C, Roussel M, Wannepain S, Berrissoul H, Bellonet M, Courtin F, Mantaux B, Fasquel V, Godefroy O, Azulay JP, Fluchère F, Delfini M, Eusebio A, Mundler L, Longato N, Rudolf G, Steinmetz G, Tranchant C, Wagner C, Zimmermann M, Marcel C, Calvas F, Pariente J, Démonet JF, Cheriet S, Kosinski CM, Milkereit E, Probst D, Reetz K, Sass C, Schiefer J, Schlangen C, Werner CJ, Gelderblom H, Priller J, Prüß H, Spruth EJ, Andrich J, Ellrichmann G, Hoffmann R, Kaminski B, Saft C, Stamm C, Lange H, Bosredon C, Maass A, Schmidt S, Storch A, Wolz M, Kohl Z, Winkler J, Capetian P, Lambeck J, Zucker B, Boelmans K, Ganos C, Goerendt I, Hidding U, Lewerenz J, Münchau A, Schmalfeld J, Stubbe L, Zittel S, Diercks G, Dressler D, Gorzolla H, Schrader C, Tacik P, Heinicke W, Longinus B, Bürk K, Möller JC, Rissling I, Mühlau M, Peinemann A, Städtler M, Weindl A, Winkelmann J, Ziegler C, Bohlen S, Hölzner E, Reilmann R, Dose M, Leythaeuser G, Marquard R, Raab T, Schrenk C, Schuierer M, Buck A, Connemann J, Eschenbach C, Landwehrmeyer B, Lezius F, Nepper S, Niess A, Schwenk D, Süßmuth S, Trautmann S, Weydt P, Cormio C, Sciruicchio V, Serpino C, Tommaso M, Capellari S, Cortelli P, Gallassi R, Poda R, Rizzo G, Scaglione C, Bertini E, Ghelli E, Ginestroni A, Massaro F, Mechi C, Paganini M, Piacentini S, Pradella S, Romoli AM, Sorbi S, Abbruzzese G, di Poggio MB, Di Maria E, Ferrandes G, Mandich P, Marchese R, Albanese A, Di Bella D, Di Donato S, Gellera C, Genitrini S, Mariotti C, Nanetti L, Paridi D, Soliveri P, Tomasello C, De Michele G, Di Maio L, Salvatore E, Rinaldi C, Rossi F, Massarelli M, Roca A, Ammendola S, Russo CV, Squitieri F, Elifani F, Maglione V, Di Pardo A, Alberti S, Griguoli A, Amico E, Martino T, Petrollini M, Catalli C, Di Giacopo R, Fasano A, Frontali M, Guidubaldi A, Ialongo T, Jacopini G, Loria G, Piano C, Chiara P, Quaranta D, Romano S, Soleti F, Spadaro M, van Hout MS, van Vugt JP, Weert A, Bolwijn J, Dekker M, Leenders K, Kremer HP, Dumas EM, van den Bogaard SJ, 't Hart EP, van Duijn E, Økland E, Hauge E, Tyvoll H, Frich J, Aaserud O, Wehus R, Bjørgo K, Fannemel M, Gørvell P, Lorentzen E, Koivisto SP, Retterstøl L, Overland T, Stokke B, Sando B, Dziadkiewicz A, Nowak M, Robowski P, Sitek E, Slawek J, Soltan W, Szinwelski M, Blaszcyk M, Boczarska-Jedynak M, Ciach-Wysocka E, Gorzkowska A, Jasinska-Myga B, Opala G, Kłodowska-Duda G, Stompel D, Banaszkiewicz K, Boćwińska D, Szczudlik A, Rudzińska M, Wójcik M, Dec M, Krawczyk M, Jaremek KB, Szczygieł E, Stenwak A, ielewska AW, Bryl A, Ciesielska A, Klimberg A, Marcinkowski J, Sempołowicz J, Samara H, Wiśniewski B, Janik P, Gogol A, Kwiecinski H, Jamrozik Z, Kaminska A, Antczak J, Jachinska K, Rakowicz M, Richter P, Rola R, Ryglewicz D, Sienkiewicz-Jarosz H, Stępniak I, Witkowski G, Zdzienicka E, Sułek A, Krysa W, Zieora-Jakutowicz K, Júlio F, Januário C, Coelho M, Mendes T, Valadas A, Timóteo Â, Costa C, Cavaco S, Damásio J, Loureiro R, Magalhães M, Andrade C, Gago M, Garrett C, Guerra MR, Lima J, Massano J, Meireles J, Herrera CD, Garcia PM, Barrero F, Morales B, Cubo E, Mariscal N, Sánchez J, Alonso-Frech F, Perez MR, Fenollar M, García RG, Quiroga PP, Rivera SV, Villanueva C, Alegre J, Bascuñana M, Caldentey JG, Ventura MF, Ribas GG, Yébenes JG, López-Sendón Moreno JL, García Ruíz PJ, Martínez-Descals A, Artiga MJ, Sánchez V, Guerrero R, Bárcenas AH, Noguera Perea MF, Fortuna L, Martirio M, Torres A, Reinante G, Moreau LV, Barbera MA, Guia DB, Hernanz LC, Catena JL, Sebastián AR, Ferrer PQ, Carruesco GT, Bas J, Busquets N, Calopa M, Elorza MD, Díez-AjaLópez C, Terol SD, Robert MF, Ruíz BG, Casado AG, Martínez IH, Viladrich CM, Càrdenas RP, Roca E, Llesoy JR, Idiago JM, Vergara MR, García SS, Riballo AV, González SG, Guisasola LM, Salvador C, San Martín ES, González M, Gorospe A, Legarda I, Arques PN, Torres Rodríguez MJ, Vives B, Gaston I, Martinez-Jaurrieta MD, Manuel J, Moreno G, Peña JC, Avarvarei LD, Bastida AM, Recio MF, Vergé LR, Sánchez VS, Carrillo F, Cáceres MT, Mir P, Suarez MJ, Bosca M, Burguera JA, Garcia AC, Brugada FC, Martínez LM, Val JL, Loutfi G, Olofsson C, Stattin EL, Westman L, Wikström B, lhagen SE, Paucar M, Svenningsson P, Reza- Soltani TW, Höglund A, Sandström B, Høsterey-Ugander U, Fredlund G, Constantinescu R, Neleborn-Lingefjärd L, Tedr- off J, Esmaeilzadeh M, Winnberg E, Pålhagen S, Svennigsson P, Riza-Soltani TW, Sundblom J, Johansson A, Wiklund L, Ekwall C, Göller ML, Petersén A, Reimer J, Widner H, Stebler Y, Kaelin A, Romero I, Schüpbach M, Weber S, Miedzybrodzka Z, Rae D, Downie L, Simpson S, Summers F, Ure A, Jack R, Matheson K, Akhtar S, Crooks J, Curtis A, Souza J, Rickards H, Wright J, Hayward B, Sieradzan K, Barker RA, O'Keefe D, Di Pietro A, Fisher K, Hill S, Mason S, Swain R, Valle N, Guzman, Bisson J, Busse M, Butcher C, Clenaghan C, Dunnett S, Handley O, Hunt S, Hughes A, Johnstone C, Jones L, Jones U, Khalil H, Owen M, Price K, Rose LE, Rosser A, Porteous M, Edwards M, Ho C, McGill M, Pearson P, Brockie P, Foster J, Johns N, McKenzie S, Rothery J, Thomas G, Yates S, Miller J, Ritchie S, Burrows L, Fletcher A, Harding A, Laver F, Silva M, Thomson A, Rowett L, Gallantrae D, Longthorpe M, Markova I, Raman A, Hamer S, Wild S, Yarduiman P, Chu C, Kraus A, Yardumian P, Musgrave H, Toscano J, Jamieson S, Hobson E, Clayton C, Dipple H, Middleton J, Freire-Patino D, Andrews T, Dougherty A, Kavalier F, Golding C, Laing H, Lashwood A, Robertson D, Ruddy D, Whaite A, Santhouse A, Patton M, Peterson M, Rose S, Bruno S, Chu E, Doherty K, Haider S, Hensman D, Lahiri N, Lewis M, Novak M, Patel A, Robertson N, Rosser E, Tabrizi S, Taylor R, Warner T, Wild E, Craufurd D, Howard L, Sollom A, Snowden J, Thompson J, Jones M, Murphy H, Trender-Gerhard I, Rogers D, Bek J, Oughton E, Johnson L, Hare M, Arran N, Verstraelen N, Partington-Jones L, Huson S, Stopford C, Westmoreland L, Davidson J, Morgan K, Savage L, Singh B, Komati S, Nemeth AH, Armstrong R, Valentine R, Siuda G, Harrison D, Hughes M, Parkinson A, Soltysiak B, Burn J, Coleman C, Bandmann O, Bradbury A, Gill P, Fairtlough H, Fillingham K, Foustanos I, Kazoka M, O'Donovan K, Taylor C, Tidswell K, Quarrell O., Molecular Neuroscience and Ageing Research (MOLAR), Hubers, Aa, van Duijn, E, Roos, Ra, Craufurd, D, Rickards, H, Bernhard Landwehrmeyer, G, van der Mast, Rc, Giltay, Ej, CollaboratorsBachoud Lévi AC, REGISTRY investigators of the European Huntington's Disease N. e. t. w. o. r. k., Bentivoglio, Ar, Biunno, I, Bonelli, Rm, Burgunder, Jm, Dunnett, Sb, Ferreira, Jj, Handley, Oj, Heiberg, A, Llmann, Ti, Landwehrmeyer, Gb, Levey, J, Ramos Arroyo, Ma, Nielsen, Je, Prokoivisto, S, Päivärinta, M, Rojo Sebastián, A, Tabrizi, Sj, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlström, J, Barth, K, Correia Guedes, L, Finisterra, Am, Garde, Mb, Bos, R, Betz, S, Callaghan, J, Fullam, R, Ecker, D, Nielsen, Mg, Hvalstedt, C, Held, C, Koppers, K, Laurà, M, Horta, Sm, Descals, Am, Mestre, T, Minster, S, Monza, D, Mütze, L, Oehmen, M, Townhill, J, Orth, M, Padieu, H, Paterski, L, Peppa, N, Pro Koivisto, S, Roedig, V, Rialland, A, Røren, N, a??inková, P, Seliverstov, Y, Cubillo, Pt, Walsem, Mr, Wright, A, da Silva, Wv, Witjes Ané, Mn, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Herranhof, B, Holl, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Scheibl, M, Hecht, K, Lilek, S, Müller, N, Schöggl, H, Ullah, J, Brugger, F, Hepperger, C, Hotter, A, Seppi, K, Wenning, G, Buratti, L, Hametner, Em, Holas, C, Hussl, A, Poewe, W, Braunwarth, Em, Sprenger, F, Müller, C, Sinadinosa, D, Walleczek, Am, Ladurner, G, Staffen, W, Flamez, A, Morez, V, de Raedt, S, Boogaerts, A, van Reijen, D, Klempí??, J, Majerová, V, Roth, J, Hartikainen, P, Hiivola, H, Martikainen, K, Tuuha, K, Ignatius, J, Kärppä, M, Åman, J, Mustonen, A, Kajula, O, Santala, M, Allain, P, Guérid, Ma, Gohier, B, Olivier, A, Prundean, A, Scherer Gagou, C, Verny, C, Bost, M, Babiloni, B, Debruxelles, S, Duché, C, Goizet, C, Lafoucrière, D, Jameau, L, Spampinato, U, De Bruycker, C, Cabaret, M, Carette, A, Defebvre, L, Decorte, E, Delval, A, Delliaux, M, Destee, A, Dujardin, K, Peter, M, Plomhouse, L, Sablonnière, B, Simonin, C, Lemaire, Mh, Manouvrier, S, Thibault Tanchou, S, Vuillaume, I, Krystkowiak, P, Duru, C, Roussel, M, Wannepain, S, Berrissoul, H, Bellonet, M, Courtin, F, Mantaux, B, Fasquel, V, Godefroy, O, Azulay, Jp, Fluchère, F, Delfini, M, Eusebio, A, Mundler, L, Longato, N, Rudolf, G, Steinmetz, G, Tranchant, C, Wagner, C, Zimmermann, M, Marcel, C, Calvas, F, Pariente, J, Démonet, Jf, Cheriet, S, Kosinski, Cm, Milkereit, E, Probst, D, Reetz, K, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Gelderblom, H, Priller, J, Prüß, H, Spruth, Ej, Andrich, J, Ellrichmann, G, Hoffmann, R, Kaminski, B, Saft, C, Stamm, C, Lange, H, Bosredon, C, Maass, A, Schmidt, S, Storch, A, Wolz, M, Kohl, Z, Winkler, J, Capetian, P, Lambeck, J, Zucker, B, Boelmans, K, Ganos, C, Goerendt, I, Hidding, U, Lewerenz, J, Münchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Diercks, G, Dressler, D, Gorzolla, H, Schrader, C, Tacik, P, Heinicke, W, Longinus, B, Bürk, K, Möller, Jc, Rissling, I, Mühlau, M, Peinemann, A, Städtler, M, Weindl, A, Winkelmann, J, Ziegler, C, Bohlen, S, Hölzner, E, Reilmann, R, Dose, M, Leythaeuser, G, Marquard, R, Raab, T, Schrenk, C, Schuierer, M, Buck, A, Connemann, J, Eschenbach, C, Landwehrmeyer, B, Lezius, F, Nepper, S, Niess, A, Schwenk, D, Süßmuth, S, Trautmann, S, Weydt, P, Cormio, C, Sciruicchio, V, Serpino, C, Tommaso, M, Capellari, S, Cortelli, P, Gallassi, R, Poda, R, Rizzo, G, Scaglione, C, Bertini, E, Ghelli, E, Ginestroni, A, Massaro, F, Mechi, C, Paganini, M, Piacentini, S, Pradella, S, Romoli, Am, Sorbi, S, Abbruzzese, G, di Poggio, Mb, Di Maria, E, Ferrandes, G, Mandich, P, Marchese, R, Albanese, A, Di Bella, D, Di Donato, S, Gellera, C, Genitrini, S, Mariotti, C, Nanetti, L, Paridi, D, Soliveri, P, Tomasello, C, DE MICHELE, Giuseppe, Di Maio, L, Salvatore, Elena, Rossi, F, Massarelli, Marco, Roca, Alessandro, Ammendola, S, Russo, Cinzia, Squitieri, F, Elifani, F, Maglione, V, Di Pardo, A, Alberti, S, Griguoli, A, Amico, E, Martino, T, Petrollini, M, Catalli, C, Di Giacopo, R, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Piano, C, Chiara, P, Quaranta, D, Romano, S, Soleti, F, Spadaro, M, Rinaldi, C, Massarelli, M, Roca, A, Russo, Cv, van Hout, M, van Vugt, Jp, Weert, A, Bolwijn, J, Dekker, M, Leenders, K, Kremer, Hp, Dumas, Em, van den Bogaard, Sj, 't Hart, Ep, Økland, E, Hauge, E, Tyvoll, H, Frich, J, Aaserud, O, Wehus, R, Bjørgo, K, Fannemel, M, Gørvell, P, Lorentzen, E, Koivisto, Sp, Retterstøl, L, Overland, T, Stokke, B, Sando, B, Dziadkiewicz, A, Nowak, M, Robowski, P, Sitek, E, Slawek, J, Soltan, W, Szinwelski, M, Blaszcyk, M, Boczarska Jedynak, M, Ciach Wysocka, E, Gorzkowska, A, Jasinska Myga, B, Opala, G, K??odowska Duda, G, Stompel, D, Banaszkiewicz, K, Bo??wi??ska, D, Szczudlik, A, Rudzi??ska, M, Wójcik, M, Dec, M, Krawczyk, M, Jaremek, Kb, Szczygie??, E, Stenwak, A, Ielewska, Aw, Bryl, A, Ciesielska, A, Klimberg, A, Marcinkowski, J, Sempo??owicz, J, Samara, H, Wi??niewski, B, Janik, P, Gogol, A, Kwiecinski, H, Jamrozik, Z, Kaminska, A, Antczak, J, Jachinska, K, Rakowicz, M, Richter, P, Rola, R, Ryglewicz, D, Sienkiewicz Jarosz, H, St??pniak, I, Witkowski, G, Zdzienicka, E, Su??ek, A, Krysa, W, Zieora Jakutowicz, K, Júlio, F, Januário, C, Coelho, M, Mendes, T, Valadas, A, Timóteo, Â, Costa, C, Cavaco, S, Damásio, J, Loureiro, R, Magalhães, M, Andrade, C, Gago, M, Garrett, C, Guerra, Mr, Lima, J, Massano, J, Meireles, J, Herrera, Cd, Garcia, Pm, Barrero, F, Morales, B, Cubo, E, Mariscal, N, Sánchez, J, Alonso Frech, F, Perez, Mr, Fenollar, M, García, Rg, Quiroga, Pp, Rivera, Sv, Villanueva, C, Alegre, J, Bascuñana, M, Caldentey, Jg, Ventura, Mf, Ribas, Gg, Yébenes, Jg, López Sendón Moreno, Jl, García Ruíz, Pj, Martínez Descals, A, Artiga, Mj, Sánchez, V, Guerrero, R, Bárcenas, Ah, Noguera Perea, Mf, Fortuna, L, Martirio, M, Torres, A, Reinante, G, Moreau, Lv, Barbera, Ma, Guia, Db, Hernanz, Lc, Catena, Jl, Sebastián, Ar, Ferrer, Pq, Carruesco, Gt, Bas, J, Busquets, N, Calopa, M, Elorza, Md, Díez AjaLópez, C, Terol, Sd, Robert, Mf, Ruíz, Bg, Casado, Ag, Martínez, Ih, Viladrich, Cm, Càrdenas, Rp, Roca, E, Llesoy, Jr, Idiago, Jm, Vergara, Mr, García, S, Riballo, Av, González, Sg, Guisasola, Lm, Salvador, C, San Martín, E, González, M, Gorospe, A, Legarda, I, Arques, Pn, Torres Rodríguez, Mj, Vives, B, Gaston, I, Martinez Jaurrieta, Md, Manuel, J, Moreno, G, Peña, Jc, Avarvarei, Ld, Bastida, Am, Recio, Mf, Vergé, Lr, Carrillo, F, Cáceres, Mt, Mir, P, Suarez, Mj, Bosca, M, Burguera, Ja, Garcia, Ac, Brugada, Fc, Martínez, Lm, Val, Jl, Loutfi, G, Olofsson, C, Stattin, El, Westman, L, Wikström, B, Lhagen, Se, Paucar, M, Svenningsson, P, Reza Soltani, Tw, Höglund, A, Sandström, B, Høsterey Ugander, U, Fredlund, G, Constantinescu, R, Neleborn Lingefjärd, L, Tedr off, J, Esmaeilzadeh, M, Winnberg, E, Pålhagen, S, Svennigsson, P, Riza Soltani, Tw, Sundblom, J, Johansson, A, Wiklund, L, Ekwall, C, Göller, Ml, Petersén, A, Reimer, J, Widner, H, Stebler, Y, Kaelin, A, Romero, I, Schüpbach, M, Weber, S, Miedzybrodzka, Z, Rae, D, Downie, L, Simpson, S, Summers, F, Ure, A, Jack, R, Matheson, K, Akhtar, S, Crooks, J, Curtis, A, Souza, J, Wright, J, Hayward, B, Sieradzan, K, Barker, Ra, O'Keefe, D, Di Pietro, A, Fisher, K, Hill, S, Mason, S, Swain, R, Valle, N, Bisson, J, Busse, M, Butcher, C, Clenaghan, C, Dunnett, S, Handley, O, Hunt, S, Hughes, A, Johnstone, C, Jones, L, Jones, U, Khalil, H, Owen, M, Price, K, Rose, Le, Rosser, A, Porteous, M, Edwards, M, Ho, C, Mcgill, M, Pearson, P, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Rothery, J, Thomas, G, Yates, S, Miller, J, Ritchie, S, Burrows, L, Fletcher, A, Harding, A, Laver, F, Silva, M, Thomson, A, Rowett, L, Gallantrae, D, Longthorpe, M, Markova, I, Raman, A, Hamer, S, Wild, S, Yarduiman, P, Chu, C, Kraus, A, Yardumian, P, Musgrave, H, Toscano, J, Jamieson, S, Hobson, E, Clayton, C, Dipple, H, Middleton, J, Freire Patino, D, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Laing, H, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Santhouse, A, Patton, M, Peterson, M, Rose, S, Bruno, S, Chu, E, Doherty, K, Haider, S, Hensman, D, Lahiri, N, Lewis, M, Novak, M, Patel, A, Robertson, N, Rosser, E, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Howard, L, Sollom, A, Snowden, J, Thompson, J, Jones, M, Murphy, H, Trender Gerhard, I, Rogers, D, Bek, J, Oughton, E, Johnson, L, Hare, M, Arran, N, Verstraelen, N, Partington Jones, L, Huson, S, Stopford, C, Westmoreland, L, Davidson, J, Morgan, K, Savage, L, Singh, B, Komati, S, Nemeth, Ah, Armstrong, R, Valentine, R, Siuda, G, Harrison, D, Hughes, M, Parkinson, A, Soltysiak, B, Burn, J, Coleman, C, Bandmann, O, Bradbury, A, Gill, P, Fairtlough, H, Fillingham, K, Foustanos, I, Kazoka, M, O'Donovan, K, Taylor, C, Tidswell, K, and Quarrell, O.
Subjects: Male, medicine.medical_specialty, Heterozygote, Psychopharmacology, Population, Poison control, psychology/statistics /&/ numerical data, Suicide, Attempted, Suicide prevention, Suicidal Ideation, [SHS]Humanities and Social Sciences, 03 medical and health sciences, 0302 clinical medicine, medicine, Prevalence, Humans, epidemiology, Europe, Psychiatry, education, Suicidal ideation, ComputingMilieux_MISCELLANEOUS, Proportional Hazards Models, Attempted, Psychiatric Status Rating Scales, education.field_of_study, Psychological Tests, Suicide attempt, Psychopathology, Depression, Hazard ratio, Huntington's disease, Odds ratio, Middle Aged, 3. Good health, 030227 psychiatry, Europe, psychology, Male, Middle Aged, Prevalence, Proportional Hazards Models, Psychiatric Status Rating Scales, Psychological Tests, Suicidal Ideation, Suicide, Clinical Psychology, Psychiatry and Mental health, Suicide, Huntington Disease, epidemiology, Female, Heterozygote, Humans, Huntington Disease, Cohort studies, Female, medicine.symptom, Psychology, 030217 neurology & neurosurgery, Clinical psychology
Abstract: BACKGROUND: Previous studies indicate increased prevalences of suicidal ideation, suicide attempts, and completed suicide in Huntington's disease (HD) compared with the general population. This study investigates correlates and predictors of suicidal ideation in HD.METHODS: The study cohort consisted of 2106 HD mutation carriers, all participating in the REGISTRY study of the European Huntington's Disease Network. Of the 1937 participants without suicidal ideation at baseline, 945 had one or more follow-up measurements. Participants were assessed for suicidal ideation by the behavioural subscale of the Unified Huntington's Disease Rating Scale (UHDRS). Correlates of suicidal ideation were analyzed using logistic regression analysis and predictors were analyzed using Cox regression analysis.RESULTS: At baseline, 169 (8.0%) mutation carriers endorsed suicidal ideation. Disease duration (odds ratio [OR]=0.96; 95% confidence interval [CI]: 0.9-1.0), anxiety (OR=2.14; 95%CI: 1.4-3.3), aggression (OR=2.41; 95%CI: 1.5-3.8), a previous suicide attempt (OR=3.95; 95%CI: 2.4-6.6), and a depressed mood (OR=13.71; 95%CI: 6.7-28.0) were independently correlated to suicidal ideation at baseline. The 4-year cumulative incidence of suicidal ideation was 9.9%. Longitudinally, the presence of a depressed mood (hazard ratio [HR]=2.05; 95%CI: 1.1-4.0) and use of benzodiazepines (HR=2.44; 95%CI: 1.2-5.0) at baseline were independent predictors of incident suicidal ideation, whereas a previous suicide attempt was not predictive.LIMITATIONS: As suicidal ideation was assessed by only one item, and participants were a selection of all HD mutation carriers, the prevalence of suicidal ideation was likely underestimated.CONCLUSIONS: Suicidal ideation in HD frequently occurs. Assessment of suicidal ideation is a priority in mutation carriers with a depressed mood and in those using benzodiazepines.
Published: 2013

11. Are all people with diabetes and cardiovascular risk factors or microvascular complications at very high risk? Findings from the Risk and Prevention Study

Author: Marzona, I., Avanzini, F., Lucisano, G., Tettamanti, M., Baviera, M., Nicolucci, A., Roncaglioni, M. C., Tombesi, M., Tognoni, G., Massa, E., Marrocco, W., Micalella, M., Caimi, V., Longoni, P., Franzosi, M. G., Monesi, L., Pangrazzi, I., Barlera, S., Milani, V., Nicolis, E., Casola, C., Clerici, F., Palumbo, A., Sgaroni, G., Marchioli, R., Silletta, M. G., Pioggiarella, R., Scarano, M., Marfisi, R. M., Flamminio, A., Macino, L., Ferri, B., Pera, C., Polidoro, A., Abbatino, D., Acquati, M., Addorisio, G., Adinolfi, D., Adreani, L., Agistri, M. R., Agneta, A., Agnolio, M. L., Agostini, N., Agostino, G., Airo, A., Alaimo, N., Albano, M., Albano, N., Alecci, G., Alemanno, S., Alexanian, A., Alfarano, M., Alfe, L., Alonzo, N., Alvino, S., Ancora, A., Andiloro, S., Andreatta, E., Angeli, S., Angiari, F., Angilletti, V., Annicchiarico, C., Anzivino, M., Aprea, R., Aprile, A., Aprile, E., Aprile, I., Aprile, L., Armellani, V., Arnetoli, M., Aronica, A., Autiero, V., Bacca, G., Baccalaro, A. M., Bacci, M., Baglio, G., Bagnani, M., Baiano, A., Baldari, A., Ballarini, L., Banchi, G., Bandera, R., Bandini, F., Baratella, M., Barbieri, A., Barbieri Vita, A., Bardi, M., Barlocchi, M., Baron, P., Bartoli, M., Basile, A., Basile, F., Basile, S., Battaggia, A., Battaglia, A., Bau, A., Beconcini, G., Beggio, R., Belfiore, P. A., Belicchi, M., Bellamoli, S., Bellini, C., Bellomo, M., Benetollo, C., Benetti, R., Beretta, E., Bertalero, P., Bertaso, F. G., Bertolani, U., Bettelli, G., Biagiotti, G., Bianchi, S., Bianco, G., Biccari, F., Bigioli, F., Bindi, M., Bisanti, G., Bitetti, E. M., Blasetti, M. P., Blesi, F., Boato, V., Boga, S., Boidi, E., Boldrin, G., Bollati, A., Bolzan, L., Bolzonella, S., Bonardi, P., Bonato, G. B., Bonci, M., Bonfitto, G., Bonincontro, E., Boninsegna, F., Bonissone, D., Bono, L., Bonollo, E., Borghi, M., Borioli, N., Borsatto, M., Bosco, T., Bosisio Pioltelli, M., Botarelli, C., Botassis, S., Bottini, F., Bottos, C., Bova, G., Bova, V., Bozzani, A., Bozzetto, R. M., Braga, V. T., Braglia, M., Bramati, E., Brazzoli, C., Breglia, G., Brescia, A., Briganti, D., Brigato, G., Brocchi, A., Brosio, F. A., Bruni, E., Buscaglia, E., Bussini, M. D., Bussotti, A., Buzzaccarini, F., Buzzatti, A., Caccamo, G., Cacciavillani, C., Caggiano, G., Calciano, F. P., Calderisi, M., Calienno, S., Caltagirone, P., Calzolari, I., Cammisa, M., Campanaro, M., Campanella, G. B., Campese, F., Canali, G., Candiani, D. E. L., Canepa, R., Canini, D., Canino, A., Cantoro, E. A., Capilupi, V., Capotosto, P., Cappelli, B., Capraro, G., Carafa, F. A., Carano, Q., Carcaterra, V., Carriero, D., Carrozzo, G., Cartanese, M., Casalena, M., Casarola, M., Caso, C., Casotto, M., Castaldi, F., Castegnaro, R., Castellani, G., Castri, S., Catalano, E., Catinello, N., Caturano, G., Cavallaro, R., Cavallo, A. M., Cavallo, G., Cavion, M. T., Cavirani, G., Cazzaniga, F., Cazzetta, D., Cecconi, V., Cefalo, A., Celebrano, M., Celora, A., Centonze, P., Cerati, D., Cesaretti, D., Checchia, G., Checchin, A., Cherubini, M., Chianese, L., Chiappa, A., Chiappa, M. V., Chiariello, G., Chiavini, G., Chicco, M., Chiumeo, F., Ciacciarelli, A., Ciaci, D., Ciancaglini, R., Cicale, C., Cicale, S., Cipolla, A., Ciruolo, A., Citeri, A. L., Citterio, G., Clerici, M., Coazzoli, E., Collecchia, G., Colletta, F., Colombo, I., Colorio, P., Coluccia, S., Comerio, M., Comoretto, P., Compagni, M., Conte, O., Contri, S., Contrisciani, A., Coppetti, T., Corasaniti, F., Corradi, M. T., Corsano, A., Corsini, A., Corti, N., Costantini, G., Costantino, A., Cotroneo, S., Cozzi, D., Cravello, M. G., Cristiano, E., Cucchi, R., Cusmai, L., D'Errico, G. B., D'Agostino, P., Dal Bianco, L., Dal Mutto, U., Dal Pozzo, G., Dallapiccola, P., Dallatorre, G., Dalle Molle, G., Dalloni, E., D'Aloiso, A., D'Amicis, G., Danese, R., Danieli, D., Danisi, G., D'Anna, M. A., Danti, G., D'Ascanio, S., Davidde, G., De Angeli, D., De Bastiani, R., De Battisti, A., De Bellis, A., De Berardinis, G., De Carlo, F., De Giorgi, D., De Gobbi, R., De Lorenzis, E., De Luca, P., De Martini, G., De Marzi, M., De Matteis, D., De Padova, S., De Polo, P., De Sabato, N., De Stefano, T., De Vita, M. T., De Vito, U., De Zolt, V., Debernardi, F., Del Carlo, A., Del Re, G., Del Zotti, F., D'Elia, R., Della Giovanna, P., Dell'Acqua, L., Dell'Orco, R. L., Demaria, G., Di Benedetto, M. G., Di Chiara, G., Di Corcia, V., Di Domizio, O., Di Donato, P., Di Donato, S., Di Fermo, G., Di Franco, M., Di Giovannantonio, G., Di Lascio, G., Di Lecce, G., Di Lorenzo, N., Di Maro, T., Di Mattia, Q., Di Michele, E., Di Modica, R. S., Di Murro, D., Di Noi, M. C., Di Paoli, V., Di Santi, M., Di Sanzo, A., Di Turi, C., Diazzi, A., Dileo, I., D'Ingianna, A. P., Dolci, A., Dona, G., Donato, C., Donato, P., Donini, A., Donna, M. E., Donvito, T. V., Esposito, L., Esposito, N., Evangelista, M., Faita, G., Falco, M., Falcone, D. A., Falorni, F., Fanciullacci, A., Fanton, L., Fasolo, L., Fassina, R., Fassone, A., Fatarella, P., Fedele, F., Fera, I., Fera, L., Ferioli, S., Ferlini, M. G., Ferlino, R., Ferrante, G., Ferrara, F. N., Ferrarese, M. F., Ferrari, G., Ferrari, O., Ferreri, A., Ferroni, M., Fezzi, G., Figaroli, C., Fina, M. G., Fioretta, A., Fiorucci, C., Firrincieli, R., Fischetti, M., Fischietti, G., Fiume, D. C., Flecchia, G., Forastiere, G., Fossati, B., Franceschi, P. L., Franchi, L., Franzoso, F., Frapporti, G., Frasca, G., Frisotti, A., Fumagalli, G., Fusco, D., Gabriele, P., Gabrieli, A., Gagliano, D., Galimberti, G., Galli, A., Gallicchio, N., Gallio, F., Gallipoli, T., Gallo, P., Galopin, T., Gambarelli, L., Garbin, A., Garozzo, G. M., Gasparri, R., Gastaldo, M., Gatti, E., Gazzaniga, P., Gennachi, N., Gentile, R. V., Germani, P., Gesualdi, F., Gherardi, E., Ghezzi, C., Ghidini, M. G., Ghionda, F., Giacci, L., Gialdini, D., Giampaolo, C., Giancane, R., Giannanti, A., Giannese, S., Giannini, L., Giaretta, M., Giaretta, R., Giavardi, L., Giordano, P., Giordano, E., Giordano, B., Gioria, G. M., Giugliano, R., Grassi, E. A., Greco, A., Greco, L., Grilletti, N., Grimaldi, N., Grisetti, G., Groppelli, G., Gualtieri, L., Guarducci, M., Guastella, G., Guerra, M., Guerrini, F., Guglielmini, A., Guido, A., Gulotta, P., Iacono, E., Iadarola, G., Ianiro, G., Iarussi, V., Ieluzzi, M. L., Ierardi, C., Ingaldi, F., Interlandi, S., Iocca, M., Iorno, A., Ioverno, E., Iurato, R., La Pace, L., La Piscopia, C., La Selva, R., Lafratta, M., Lamparelli, M., Lanaro, G., Lancerotto, R., Larcher, M., Lassandro, M., Lattuada, G., Laurino, P., Lefons, C., Legrottaglie, F., Lemma, A., Leone, D., Leone, F., Leso, A., Leuzzi, G., Levato, G., Libardi, L., Libralesso, N., Licini, P. I., Licursi, G., Lidonnici, F., Lillo, C., Liveri, L., Livio, A., Loiero, R. A., Loison, M., Lombardo, G., Lombardo, T., Lomunno, V., Lomuscio, S., Lonedo, A., Longo, E., Lora, L., Lotterio, A., Lucatello, L., Luongo, A., Lupoli, M., Macchia, C., Macri, G., Mafessanti, M., Maggialetti, V., Maggioni, A., Magnani, M., Maiellaro, G., Mancuso, A., Maniglio, A. R., Mannari, G. L., Manni, A., Manocchio, B., Mao, M., Marano, A., Maraone, E., Marascio, D., Marcheselli, P., Marchetto, B., Marchetto, S., Marchi, A., Marchi, G. L., Mariano, C., Marinacci, S., Marinelli, S., Marini, G., Marra, V. C., Marrali, F., Marseglia, C., Martello, G., Martino, C., Martino, G., Martino, M., Marulli, C. F., Maruzzi, G., Marzotti, A., Mascheroni, G., Mascolo, P., Masoch, G., Masone, R., Massa, L., Massafra, M., Massi, M., Massignani, D. M., Matarese, A. M., Matini, G., Mauro, R., Mazzi, M., Mazzillo, A., Mazzocato, E., Mazzoleni, N. S., Mazzone, A., Melacci, A., Mele, E., Meliota, P., Menaspa, S., Meneghello, F., Merola, G., Merone, L., Metrucci, A., Mezzina, V., Micchi, A., Michielon, A., Migliore, N., Minero, G., Minotta, F., Mirandola, C., Mistrorigo, S., Modafferi, L., Moitre, R., Mola, E., Monachese, C., Mongiardini, C., Montagna, F., Montani, M., Montemurno, I., Montolli, R., Montorsi, S., Montresor, M., Monzani, M. G., Morabito, F., Mori, G., Moro, A., Mosca, M. F., Motti, F., Muddolon, L., Mugnai, M., Muscas, F., Naimoli, F., Nanci, G., Nargi, E., Nasorri, R., Nastrini, G., Negossi, M., Negrini, A., Negroni, A., Neola, V., Niccolini, F., Niro, C. M., Nosengo, C., Novella, G., Nuti, C., Obici, F., Olita, C., Oliverio, S. S., Olivieri, I., Oriente, S., Orlando, G., Paci, C., Pagano, G., Pagliara, C., Paita, G., Paladini, G., Paladino, G., Palano, T., Palatella, A., Palermo, P., Palmisano, M., Pando, P., Panessa, P., Panigo, F., Panozzo, G., Panvini, F., Panzieri, F., Panzino, A., Panzitta, F., Paoli, N., Papagna, R., Papaleo, M. G., Papalia, G., Parisi, R., Parotti, N., Parravicini, D., Passarella, P., Pastore, G. A., Patafio, M., Pavone, P., Pedroli, W., Pedroni, M., Pelligra, G., Pellizzari, M., Penati, A., Perlot, M., Perrone, A., Perrone, G., Peruzzi, P., Peselli, C., Petracchini, L., Petrera, L., Petrone, S., Peverelli, C., Pianorsi, F., Piazza, G. P., Piazzolla, G., Picci, A., Pienabarca, G., Pietronigro, T. P., Pignocchino, P., Pilone, R., Pinto, D., Pirovano, E., Pirrotta, D., Pisante, V., Pitotto, P., Pittari, L., Piva, A., Pizzoglio, A., Plantera, O. R., Plebani, W., Plessi, S., Podrecca, D., Poerio, V., Poggiani, F., Pogliani, W., Poli, L., Poloni, F. G., Porcelli, R., Porto, S., Pranzo, L., Prevedello, C., Profeta, C., Profico, D., Punzi, A., Quaglia, G. M., Racano, M., Raccone, A., Radice, F., Raho, C. A., Raimondi, R., Raino, M., Ramponi, R., Ramunni, A., Ramunni, A. L., Ravasio, F., Ravera, M., Re Sarto, G., Rebustello, G., Regazzoli, S., Restelli, C., Rezzonico, M., Ricchiuto, F., Rigo, S., Rigon, G., Rigon, R., Rinaldi, O. V., Rinaldi, M., Risplendente, P. G., Rispoli, M., Riundi, R., Riva, M. G., Rizzi, A. L., Rizzi, D., Rizzo, L. D., Rocchi, L., Rondinone, B., Rosa, B., Rosati, F., Roselli, F., Rossetti, A., Rossetti, C., Rossi, R., Rossi, P. R., Rossi, A., Rossi, C. L., Rossitto, A., Ruffini, R., Ruffo, A., Ruggio, S., Ruo, M., Russo, B., Russo, L., Russo, R., Russo, S., Russo, U., Russo, V., Ruta, G., Sacchi, F., Sacco Botto, F., Saia, A., Salladini, G., Salmoiraghi, S., Saluzzo, F., Salvatore, C., Salvatori, E., Salvio, G., Sandri, P., Sandrini, T., Sangermano, V., Santoni, N., Saracino, A. D., Saracino, A., Sarasin, P., Sardo Infirri, C., Sarri, B., Sartori, G., Sartori, N., Sauro, C., Scaglioni, M., Scalfi, C., Scamardella, A. M., Scandale, G., Scandone, L., Scannavini, G., Scarati, R., Scardi, A., Scarpa, F. M., Scazzi, P., Schifone, A., Schiroso, G., Scigliano, G., Scilla, A., Sciortino, M., Scolaro, G., Scollo, E., Scorretti, G., Sellitti, R., Selmo, A., Selvaggio, G., Sempio, A., Seren, F., Serio, L., Serra, C., Serra, L., Siciliano, D., Sideri, A., Sighele, M., Signore, R., Siliberto, F., Silvestro, M., Simioni, G., Simmini, G., Simonato, L., Sinchetto, F., Sizzano, E., Smajato, G., Smaldone, M., Sola, G., Sordillo, L., Sovran, C. S., Spagnul, P., Spano, F., Sproviero, S., Squintani, A., Stella, L., Stilo, V., Stocchiero, B., Stornello, M. C., Stracka, G., Strada, S., Stranieri, G., Stucci, N., Stufano, N., Suppa, A., Susca, V. G., Sutti, M., Taddei, M., Tagliabue, E., Tagliente, G., Talato, F., Talerico, P., Talia, R., Taranto, R., Tartaglia, M., Tauro, N., Tedesco, A., Tieri, P., Tirelli, M., Tocci, L., Todesco, P., Tognolo, M., Tomba, A., Tonello, P., Tonon, R., Toscano, L., Tosi, A., Tosi, G., Toso, S., Travaglio, P., Tremul, L., Tresso, C., Triacchini, P., Triggiano, L., Trigilio, A., Trimeloni, J., Tripicchio, G., Tritto, G. S., Trono, F., Trotta, E., Trotta, G., Tubertini, A., Turri, C., Turri, L., Tuttolani, M. P., Urago, M., Ursini, G., Valcanover, F., Valente, L., Valenti, M., Valentini, F., Vallone, G., Valz, P., Valzano, L., Vanin, V., Vatteroni, M., Vegetti, L., Vendrame, D., Veramonti, I., Veronelli, G., Vesco, A., Vicariotto, G., Vignale, G., Villa, P. L., Vinciguerra, R., Visco, A., Visentin, G., Visona, E., Vitali, E., Vitali, S., Vitti, F., Volpone, D. A., Zambon, N., Zammarrelli, A., Zanaboni, A., Zane, D., Zanetti, B., Zanibellato, R., Zappetti, M., Zappone, P., Zerilli, G., Zirino, V., Zoccali, R., Zuin, F., Altomonte, M., Anelli, N., Angio, F., Annale, P., Antonacci, S., Anzilotta, R., Bano, F., Basadonna, O., Beduschi, L., Becagli, P., Bellotti, G., Blotta, C., Bruno, G., Cappuccini, A., Caramatti, S., Cariolato, M. P., Castellana, M., Castellani, L., Catania, R., Chielli, A., Chinellato, A., Ciaccia, A., Clerici, E., Cocci, A., Costanzo, G., D'Ercole, F., De Stefano, G., Dece, F., Di Cicco, N., Di Marco, A., Donati Sarti, C., Draghi, E., Dusi, G., Esposito, V., Ferraro, L., Ferretti, A., Ferri, E., Foggetti, L., Foglia, A., Fonzi, E., Frau, G., Fuoco, M. R., Furci, G., Gallo, L., Garra, V., Giannini, A., Gris, A., Iacovino, R., Interrigi, R., Joppi, R., Laner, B., La Fortezza, G., La Padula, A., Lista, M. R., Lupi, G., Maffei, D., Maggioni, G., Magnani, L., Marrazzo, E., Marcon, L., Marino, V., Maroni, A., Martinelli, C., Mastandrea, E., Mastropierro, F., Meo, A. T., Mero, P., Minesso, E., Moschetta, V., Mosele, E., Nanni, C., Negretti, A., Nistico, C., Orsini, A., Osti, M., Pacilli, M. C., Pennestre, C., Picerno, G., Piol, K., Pivano, L., Pizzuti, E., Poggi, L., Poidomani, I., Pozzetto, M., Presti, M. L., Ravani, R., Recalenda, V., Romagnuolo, F., Rossignoli, S., Rossin, E., Sabatella, C., Sacco, F., Sanita, F., Sansone, E., Servadei, F., Sisto, M. T., Sorio, A., Sorrentino, A., Spinelli, E., Spolaor, A., Squillacioti, A., Stella, P., Talerico, A., Todisco, C., Vadino, M., and Zuliani, C.
Subjects: Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Population, 030209 endocrinology & metabolism, 030204 cardiovascular system & hematology, Overweight, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Prediction model, Internal medicine, Diabetes mellitus, Internal Medicine, Diabetes Mellitus, Medicine, Humans, Multicenter Studies as Topic, Myocardial infarction, Risk factor, education, Stroke, Aged, Randomized Controlled Trials as Topic, education.field_of_study, Lifestyle habits, business.industry, Major cardiovascular events, Atrial fibrillation, General Medicine, Middle Aged, medicine.disease, Cardiovascular Diseases, Heart failure, Physical therapy, Female, medicine.symptom, business, Diabetic Angiopathies
Abstract: To verify whether it is possible, in people with diabetes mellitus (DM) considered at very high cardiovascular (CV) risk, stratify this risk better and identify significant modifiable risk factor (including lifestyle habits) to help patients and clinicians improve CV prevention. People with DM and microvascular diseases or one or more CV risk factors (hypertension, hyperlipidemia, smoking, poor dietary habits, overweight, physical inactivity) included in the Risk and Prevention study were selected. We considered the combined endpoint of non-fatal acute myocardial infarction and stroke and CV death. A multivariate Cox proportional analysis was carried out to identify relevant predictors. We also used the RECPAM method to identify subgroups of patients at higher risk. In our study, the rate of major CV events was lower than expected (5 % in 5 years). Predictors of CV events were age, male, sex, heart failure, previous atherosclerotic disease, atrial fibrillation, insulin treatment, high HbA1c, heart rate and other CV diseases while being physically active was protective. RECPAM analysis indicated that history of atherosclerotic diseases and a low BMI defined worse prognosis (HR 4.51 95 % CI 3.04–6.69). Among subjects with no previous atherosclerotic disease, men with HbA1c more than 8 % were at higher CV risk (HR 2.77; 95 % CI 1.86–4.14) with respect to women. In this population, the rate of major CV events was lower than expected. This prediction model could help clinicians identify people with DM at higher CV risk and support them in achieving goals of physical activity and HbA1c.
Published: 2016

12. The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients

Author: Metzger S, Walter C, Riess O, Roos RA, Nielsen JE, Craufurd D, Nguyen HP, REGISTRY Investigators of the European Huntington’s Disease Network:Bachoud Lévi AC, Bentivoglio AR, Biunno I, Bonelli RM, Burgunder JM, Dunnett SB, Ferreira JJ, Handley OJ, Heiberg A, Illmann T, Landwehrmeyer G, Levey J, Ramos Arroyo MA, Nielsen J, Koivisto SP, Päivärinta M, Sebastián AR, Tabrizi S, Vandenberghe W, Verellen Dumoulin C, Zaremba J, Uhrová T, Wahlström J, Barth K, Correia Guedes L, Finisterra AM, Garde MB, Bos R, Betz S, Callaghan J, Fullam R, Ecker D, Nielsen MG, Hvalstedt C, Held C, Koppers K, Laurà M, Horta SM, Descals AM, Díaz MF, Mestre T, Minster S, Monza D, Mütze L, Oehmen M, Townhill J, Orth M, Padieu H, Paterski L, Peppa N, Roedig V, Rialland A, Røren N, Šašinková P, Seliverstov Y, Cubillo PT, van Walsem MR, Wright A, Silva WV, Witjes Anné MN, Yudina E, Zielonka D, Zielonka E, Zinzi P, Herranhof B, Holl A, Kapfhammer HP, Koppitz M, Magnet M, Otti D, Painold A, Reisinger K, Scheibl M, Hecht K, Lilek S, Müller N, Schöggl H, Ullah J, Ribaï P, Boogaerts A, van Reijen D, Klempíř J, Majerová V, Roth J, Hjermind L, Jacobsen O, Vinthev Jensen T, Larsen IU, Stockholm J, Hiivola H, Martikainen K, Tuuha K, Ignatius J, Kärppä M, Åman J, Mustonen A, Kajula O, Santala M, Allain P, Guérid MA, Gohier B, Olivier A, Prundean A, Scherer Gagou C, Verny C, Bost M, Babiloni B, Debruxelles S, Duché C, Goizet C, Lafoucrière D, Jameau L, Spampinato U, De Bruycker C, Cabaret M, Carette AS, Defebvre L, Decorte E, Delval A, Delliaux M, Destee A, Dujardin K, Peter M, Plomhouse L, Sablonnière B, Simonin C, Lemaire MH, Manouvrier S, Thibault Tanchou S, Vuillaume I, Krystkowiak P, Duru C, Roussel M, Wannepain S, Berrissoul H, Bellonet M, Courtin F, Mantaux B, Fasquel V, Godefroy O, Azulay JP, Fluchère F, Delfini M, Eusebio A, Mundler L, Longato N, Rudolf G, Steinmetz G, Tranchant C, Wagner C, Zimmermann MA, Marcel C, Andrich J, Ellrichmann G, Hoffmann R, Kaminski B, Saft C, Stamm C, Boelmans K, Ganos C, Goerendt I, Hidding U, Lewerenz J, Münchau A, Schmalfeld J, Stubbe L, Zittel S, Bürk K, Möller JC, Rissling I, Cormio C, Sciruicchio V, Serpino C, de Tommaso M, CAPELLARI, SABINA, CORTELLI, PIETRO, Gallassi R, PODA, ROBERTO, RIZZO, GIOVANNI, Scaglione C, Abbruzzese G, di Poggio MB, Di Maria E, Ferrandes G, Mandich P, Marchese R, Albanese A, Di Bella D, Di Donato S, Gellera C, Genitrini S, Mariotti C, Nanetti L, Paridi D, Soliveri P, Tomasello C, Squitieri F, Elifani F, Maglione V, Di Pardo A, Alberti S, Griguoli A, Amico E, Martino T, Petrollini M, Catalli C, Di Giacopo R, Fasano A, Frontali M, Guidubaldi A, Ialongo T, Jacopini G, Loria G, Piano C, Chiara P, Quaranta D, Romano S, Soleti F, Spadaro M, van Hout MS, van Vugt JP, de Weert A, Bolwijn JJ, Dekker M, Leenders KL, Dumas EM, van den Bogaard SJ, 't Hart EP, van Duijn E, Kremer B, Verstappen CC, Blinkenberg EØ, Hauge E, Tyvoll H, Frich J, Aaserud O, Wehus R, Bjørgo K, Fannemel M, Gørvell P, Lorentzen E, Retterstøl L, Overland T, Stokke B, Bjørnevoll I, Sando SB, Dziadkiewicz A, Nowak M, Robowski P, Sitek E, Slawek J, Soltan W, Szinwelski M, Blaszcyk M, Boczarska Jedynak M, Ciach Wysocka E, Gorzkowska A, Jasinska Myga B, Opala G, Kłodowska Duda G, Stompel D, Banaszkiewicz K, Boćwińska D, Szczudlik A, Rudzinska M, Wójcik M, Dec M, Krawczyk M, Bojakowska Jaremek K, Szczygieł E, Stenwak A, Wasielewska A, Bryl A, Ciesielska A, Klimberg A, Marcinkowski J, Sempołowicz J, Samara H, Wiśniewski B, Janik P, Gogol A, Kwiecinski H, Jamrozik Z, Kaminska A, Antczak J, Jachinska K, Rakowicz M, Richter P, Rola R, Ryglewicz D, Sienkiewicz Jarosz H, Stępniak I, Witkowski G, Zdzienicka E, Sułek A, Krysa W, Stepniak I, Zieora Jakutowicz K, Júlio F, Januário C, Coelho M, Mendes T, Valadas A, Andrade C, Gago M, Garrett C, Guerra MR, Lima J, Massano J, Meireles J, Herrera CD, Garcia PM, Barrero F, Morales B, Cubo E, Mariscal N, Sánchez J, Alonso Frech F, Perez MR, Fenollar M, García RG, Pin Quiroga P, Vázquez Rivera S, Villanueva C, Alegre J, Bascuñana M, Caldentey JG, Ventura MF, Ribas GG, de Yébenes JG, Moreno JL, Ruíz PJ, Martínez Descals A, Artiga MJ, Sánchez V, Guerrero R, Bárcenas AH, Perea MF, Fortuna L, Torres MM, Reinante G, Moreau LV, Barbera MA, Guia DB, Hernanz LC, Catena JL, Ferrer PQ, Carruesco GT, Bas J, Busquets N, Calopa M, Elorza MD, López CD, Durán Sindreu Terol S, Robert MF, Ruíz BG, Casado AG, Martínez IH, Viladrich CM, Cárdenas RP, Roca E, Llesoy JR, Idiago JM, Vergara MR, García SS, Riballo AV, González SG, Guisasola LM, Salvador C, Martín ES, González M, Gorospe A, Legarda I, Arques PN, Rodríguez MJ, Vives B, Gaston I, Martinez Jaurrieta MD, Moreno JM, Peña JC, Avarvarei LD, Bastida AM, Recio MF, Vergé LR, Sánchez VS, Carrillo F, Cáceres MT, Mir P, Suarez MJ, Loutfi G, Olofsson C, Stattin EL, Westman L, Wikström B, Pålhagen SE, Paucar M, Svenningsson P, Reza Soltani TW, Höglund A, Sandström B, Høsterey Ugander U, Fredlund G, Constantinescu R, Neleborn Lingefjärd L, Stebler Y, Kaelin A, Romero I, Schüpbach M, Zaugg SW, Miedzybrodzka Z, Rae D, Downie L, Simpson S, Summers F, Ure A, Jack R, Matheson K, Akhtar S, Crooks J, Curtis A, de Souza J, Rickards H, Wright J, Barker RA, O' Keefe D, Di Pietro A, Fisher K, Goodman A, Hill S, Mason S, Swain R, Guzman NV, Bisson J, Busse M, Butcher C, Clenaghan C, Dunnett S, Handley O, Hunt S, Hughes A, Johnstone C, Jones L, Jones U, Khalil H, Owen M, Price K, Rose LE, Rosser A, Porteous M, Edwards M, Ho C, McGill M, Pearson P, Brockie P, Foster J, Johns N, McKenzie S, Rothery J, Thomas G, Yates S, Burrows L, Fletcher A, Harding A, Laver F, Silva M, Thomson A, Rowett L, Gallantrae D, Longthorpe M, Markova I, Raman A, Hamer S, Yarduiman P, Chu C, Kraus A, Wild S, Musgrave H, Toscano J, Jamieson S, Hobson E, Clayton C, Dipple H, Middleton J, Freire Patino D, Andrews T, Dougherty A, Kavalier F, Golding C, Laing H, Lashwood A, Robertson D, Ruddy D, Whaite A, Santhouse A, Patton M, Peterson M, Rose S, Bruno S, Chu E, Doherty K, Haider S, Hensman D, Lahiri N, Lewis M, Novak M, Patel A, Robertson N, Rosser E, Taylor R, Warner T, Wild E, Howard L, Sollom A, Snowden J, Thompson J, Jones M, Murphy H, Trender Gerhard I, Rogers D, Bek J, Oughton E, Johnson L, Hare M, Arran N, Verstraelen N, Partington Jones L, Huson S, Stopford C, Westmoreland L, Davidson J, Morgan K, Savage L, Singh B, Komati S, Nemeth AH, Armstrong R, Valentine R, Siuda G, Harrison D, Hughes M, Parkinson A, Soltysiak B, Bandmann O, Bradbury A, Gill P, Fairtlough H, Fillingham K, Foustanos I, Kazoka M, O' Donovan K, Taylor C, Tidswell K, Quarrell O, Metzger S, Walter C, Riess O, Roos RA, Nielsen JE, Craufurd D, Nguyen HP, REGISTRY Investigators of the European Huntington’s Disease Network:Bachoud-Lévi AC, Bentivoglio AR, Biunno I, Bonelli RM, Burgunder JM, Dunnett SB, Ferreira JJ, Handley OJ, Heiberg A, Illmann T, Landwehrmeyer G, Levey J, Ramos-Arroyo MA, Nielsen J, Koivisto SP, Päivärinta M, Sebastián AR, Tabrizi S, Vandenberghe W, Verellen-Dumoulin C, Zaremba J, Uhrová T, Wahlström J, Barth K, Correia-Guedes L, Finisterra AM, Garde MB, Bos R, Betz S, Callaghan J, Fullam R, Ecker D, Nielsen MG, Hvalstedt C, Held C, Koppers K, Laurà M, Horta SM, Descals AM, Díaz MF, Mestre T, Minster S, Monza D, Mütze L, Oehmen M, Townhill J, Orth M, Padieu H, Paterski L, Peppa N, Roedig V, Rialland A, Røren N, Šašinková P, Seliverstov Y, Cubillo PT, van Walsem MR, Wright A, Silva WV, Witjes-Anné MN, Yudina E, Zielonka D, Zielonka E, Zinzi P, Herranhof B, Holl A, Kapfhammer HP, Koppitz M, Magnet M, Otti D, Painold A, Reisinger K, Scheibl M, Hecht K, Lilek S, Müller N, Schöggl H, Ullah J, Ribaï P, Boogaerts A, van Reijen D, Klempíř J, Majerová V, Roth J, Hjermind L, Jacobsen O, Vinthev-Jensen T, Larsen IU, Stockholm J, Hiivola H, Martikainen K, Tuuha K, Ignatius J, Kärppä M, Åman J, Mustonen A, Kajula O, Santala M, Allain P, Guérid MA, Gohier B, Olivier A, Prundean A, Scherer-Gagou C, Verny C, Bost M, Babiloni B, Debruxelles S, Duché C, Goizet C, Lafoucrière D, Jameau L, Spampinato U, De Bruycker C, Cabaret M, Carette AS, Defebvre L, Decorte E, Delval A, Delliaux M, Destee A, Dujardin K, Peter M, Plomhouse L, Sablonnière B, Simonin C, Lemaire MH, Manouvrier S, Thibault-Tanchou S, Vuillaume I, Krystkowiak P, Duru C, Roussel M, Wannepain S, Berrissoul H, Bellonet M, Courtin F, Mantaux B, Fasquel V, Godefroy O, Azulay JP, Fluchère F, Delfini M, Eusebio A, Mundler L, Longato N, Rudolf G, Steinmetz G, Tranchant C, Wagner C, Zimmermann MA, Marcel C, Andrich J, Ellrichmann G, Hoffmann R, Kaminski B, Saft C, Stamm C, Boelmans K, Ganos C, Goerendt I, Hidding U, Lewerenz J, Münchau A, Schmalfeld J, Stubbe L, Zittel S, Bürk K, Möller JC, Rissling I, Cormio C, Sciruicchio V, Serpino C, de Tommaso M, Capellari S, Cortelli P, Gallassi R, Poda R, Rizzo G, Scaglione C, Abbruzzese G, di Poggio MB, Di Maria E, Ferrandes G, Mandich P, Marchese R, Albanese A, Di Bella D, Di Donato S, Gellera C, Genitrini S, Mariotti C, Nanetti L, Paridi D, Soliveri P, Tomasello C, Squitieri F, Elifani F, Maglione V, Di Pardo A, Alberti S, Griguoli A, Amico E, Martino T, Petrollini M, Catalli C, Di Giacopo R, Fasano A, Frontali M, Guidubaldi A, Ialongo T, Jacopini G, Loria G, Piano C, Chiara P, Quaranta D, Romano S, Soleti F, Spadaro M, van Hout MS, van Vugt JP, de Weert A, Bolwijn JJ, Dekker M, Leenders KL, Dumas EM, van den Bogaard SJ, 't Hart EP, van Duijn E, Kremer B, Verstappen CC, Blinkenberg EØ, Hauge E, Tyvoll H, Frich J, Aaserud O, Wehus R, Bjørgo K, Fannemel M, Gørvell P, Lorentzen E, Retterstøl L, Overland T, Stokke B, Bjørnevoll I, Sando SB, Dziadkiewicz A, Nowak M, Robowski P, Sitek E, Slawek J, Soltan W, Szinwelski M, Blaszcyk M, Boczarska-Jedynak M, Ciach-Wysocka E, Gorzkowska A, Jasinska-Myga B, Opala G, Kłodowska-Duda G, Stompel D, Banaszkiewicz K, Boćwińska D, Szczudlik A, Rudzinska M, Wójcik M, Dec M, Krawczyk M, Bojakowska-Jaremek K, Szczygieł E, Stenwak A, Wasielewska A, Bryl A, Ciesielska A, Klimberg A, Marcinkowski J, Sempołowicz J, Samara H, Wiśniewski B, Janik P, Gogol A, Kwiecinski H, Jamrozik Z, Kaminska A, Antczak J, Jachinska K, Rakowicz M, Richter P, Rola R, Ryglewicz D, Sienkiewicz-Jarosz H, Stępniak I, Witkowski G, Zdzienicka E, Sułek A, Krysa W, Stepniak I, Zieora-Jakutowicz K, Júlio F, Januário C, Coelho M, Mendes T, Valadas A, Andrade C, Gago M, Garrett C, Guerra MR, Lima J, Massano J, Meireles J, Herrera CD, Garcia PM, Barrero F, Morales B, Cubo E, Mariscal N, Sánchez J, Alonso-Frech F, Perez MR, Fenollar M, García RG, Pin Quiroga P, Vázquez Rivera S, Villanueva C, Alegre J, Bascuñana M, Caldentey JG, Ventura MF, Ribas GG, de Yébenes JG, Moreno JL, Ruíz PJ, Martínez-Descals A, Artiga MJ, Sánchez V, Guerrero R, Bárcenas AH, Perea MF, Fortuna L, Torres MM, Reinante G, Moreau LV, Barbera MA, Guia DB, Hernanz LC, Catena JL, Ferrer PQ, Carruesco GT, Bas J, Busquets N, Calopa M, Elorza MD, López CD, Durán-Sindreu Terol S, Robert MF, Ruíz BG, Casado AG, Martínez IH, Viladrich CM, Cárdenas RP, Roca E, Llesoy JR, Idiago JM, Vergara MR, García SS, Riballo AV, González SG, Guisasola LM, Salvador C, Martín ES, González M, Gorospe A, Legarda I, Arques PN, Rodríguez MJ, Vives B, Gaston I, Martinez-Jaurrieta MD, Moreno JM, Peña JC, Avarvarei LD, Bastida AM, Recio MF, Vergé LR, Sánchez VS, Carrillo F, Cáceres MT, Mir P, Suarez MJ, Loutfi G, Olofsson C, Stattin EL, Westman L, Wikström B, Pålhagen SE, Paucar M, Svenningsson P, Reza-Soltani TW, Höglund A, Sandström B, Høsterey-Ugander U, Fredlund G, Constantinescu R, Neleborn-Lingefjärd L, Stebler Y, Kaelin A, Romero I, Schüpbach M, Zaugg SW, Miedzybrodzka Z, Rae D, Downie L, Simpson S, Summers F, Ure A, Jack R, Matheson K, Akhtar S, Crooks J, Curtis A, de Souza J, Rickards H, Wright J, Barker RA, O' Keefe D, Di Pietro A, Fisher K, Goodman A, Hill S, Mason S, Swain R, Guzman NV, Bisson J, Busse M, Butcher C, Clenaghan C, Dunnett S, Handley O, Hunt S, Hughes A, Johnstone C, Jones L, Jones U, Khalil H, Owen M, Price K, Rose LE, Rosser A, Porteous M, Edwards M, Ho C, McGill M, Pearson P, Brockie P, Foster J, Johns N, McKenzie S, Rothery J, Thomas G, Yates S, Burrows L, Fletcher A, Harding A, Laver F, Silva M, Thomson A, Rowett L, Gallantrae D, Longthorpe M, Markova I, Raman A, Hamer S, Yarduiman P, Chu C, Kraus A, Wild S, Musgrave H, Toscano J, Jamieson S, Hobson E, Clayton C, Dipple H, Middleton J, Freire-Patino D, Andrews T, Dougherty A, Kavalier F, Golding C, Laing H, Lashwood A, Robertson D, Ruddy D, Whaite A, Santhouse A, Patton M, Peterson M, Rose S, Bruno S, Chu E, Doherty K, Haider S, Hensman D, Lahiri N, Lewis M, Novak M, Patel A, Robertson N, Rosser E, Taylor R, Warner T, Wild E, Howard L, Sollom A, Snowden J, Thompson J, Jones M, Murphy H, Trender-Gerhard I, Rogers D, Bek J, Oughton E, Johnson L, Hare M, Arran N, Verstraelen N, Partington-Jones L, Huson S, Stopford C, Westmoreland L, Davidson J, Morgan K, Savage L, Singh B, Komati S, Nemeth AH, Armstrong R, Valentine R, Siuda G, Harrison D, Hughes M, Parkinson A, Soltysiak B, Bandmann O, Bradbury A, Gill P, Fairtlough H, Fillingham K, Foustanos I, Kazoka M, O' Donovan K, Taylor C, Tidswell K, and Quarrell O
Subjects: Adult, Adolescent, Genotype, Huntington, Ubiquitin-Activating Enzymes, Autophagy-Related Protein 7, Polymorphism, Single Nucleotide, Cohort Studies, Young Adult, Gene Frequency, V471A polymorphism, Genetics, Autophagy, Humans, Age of Onset, Child, Biology, Genetic Association Studies, Aged, Clinical Genetics, Evolutionary Biology, Computational Biology, Human Genetics, Middle Aged, Huntington Disease, Neurology, Italy, Autosomal Dominant, Child, Preschool, Genetic Polymorphism, Medicine, Population Genetics, gene ATG7, Research Article
Abstract: The cause of Huntington disease (HD) is a polyglutamine repeat expansion of more than 36 units in the huntingtin protein, which is inversely correlated with the age at onset of the disease. However, additional genetic factors are believed to modify the course and the age at onset of HD. Recently, we identified the V471A polymorphism in the autophagy-related gene ATG7, a key component of the autophagy pathway that plays an important role in HD pathogenesis, to be associated with the age at onset in a large group of European Huntington disease patients. To confirm this association in a second independent patient cohort, we analysed the ATG7 V471A polymorphism in additional 1,464 European HD patients of the "REGISTRY" cohort from the European Huntington Disease Network (EHDN). In the entire REGISTRY cohort we could not confirm a modifying effect of the ATG7 V471A polymorphism. However, analysing a modifying effect of ATG7 in these REGISTRY patients and in patients of our previous HD cohort according to their ethnic origin, we identified a significant effect of the ATG7 V471A polymorphism on the HD age at onset only in the Italian population (327 patients). In these Italian patients, the polymorphism is associated with a 6-years earlier disease onset and thus seems to have an aggravating effect. We could specify the role of ATG7 as a genetic modifier for HD particularly in the Italian population. This result affirms the modifying influence of the autophagic pathway on the course of HD, but also suggests population-specific modifying mechanisms in HD pathogenesis.
Published: 2013

13. Early tumor shrinkage and depth of response predict long-term outcome in metastatic colorectal cancer patients treated with first-line chemotherapy plus bevacizumab: results from phase III TRIBE trial by the Gruppo Oncologico del Nord Ovest

Author: Cremolini, C, Loupakis, F, Antoniotti, C, Lonardi, S, Masi, G, Salvatore, L, Cortesi, Enrico, Tomasello, G, Spadi, R, Zaniboni, A, Tonini, G, Barone, C, Vitello, S, Longarini, R, Bonetti, A, D&apos, Amico, M, Di Donato, S, Granetto, C, Boni, L, and Falcone, A.
Subjects: Adult, Oncology, Prognostic variable, medicine.medical_specialty, Time Factors, Organoplatinum Compounds, Bevacizumab, Colorectal cancer, Population, Leucovorin, Angiogenesis Inhibitors, Kaplan-Meier Estimate, Disease-Free Survival, early tumor shrinkage, depth of response, FOLFOXIRI, bevacizumab, Risk Factors, Internal medicine, Antineoplastic Combined Chemotherapy Protocols, medicine, Humans, Neoplasm Metastasis, education, Aged, Proportional Hazards Models, education.field_of_study, Univariate analysis, Chi-Square Distribution, business.industry, Proportional hazards model, Hematology, Middle Aged, medicine.disease, Tumor Burden, Treatment Outcome, Early tumor shrinkage, Italy, Multivariate Analysis, Disease Progression, FOLFIRI, Camptothecin, Fluorouracil, Colorectal Neoplasms, Depth of response, business, medicine.drug
Abstract: Background Early tumor shrinkage (ETS) and depth of response (DoR) predict overall survival (OS) in first-line trials of chemotherapy ± anti-EGFR monoclonal antibodies in metastatic colorectal cancer (mCRC). These associations and the predictive accuracy of response measurements for survival parameters were investigated in the phase III TRIBE trial of FOLFOXIRI plus bevacizumab (bev) versus FOLFIRI plus bev. Patients and methods A landmark approach was adopted to define the assessable population. The distribution of RECIST response rate, ETS and DoR was compared in the two arms. Associations between response measurements and progression-free survival (PFS), post-progression survival (PPS) and OS were tested by univariate and multivariate Cox models. Prediction performance of each factor was estimated by C-index. Results A significantly higher percentage of patients in the FOLFOXIRI plus bev arm achieved ETS ≥20%, when compared with the control arm (62.7% versus 51.9%, P = 0.025). Also the DoR was significantly higher in the triplet plus bev arm (43.4% versus 37.8%, P = 0.003). Both ETS and DoR were associated with PFS, PPS and OS at the univariate analyses and in the multivariate models stratified for other prognostic variables. Both ETS and DoR were able to predict survival as accurately as RECIST response. Conclusion FOLFOXIRI plus bev improves ETS and DoR when compared with FOLFIRI plus bev. Achieving rapid and deep tumor shrinkage consistently delays tumor progression and prolongs survival in patients treated with first-line chemotherapy plus bev. ETS is a promising and valuable end point for clinical trials' design deserving further investigation.
Published: 2015

14. Effects of different hunting management on the genetic structure of wild boar population in South Italy

Author: RIPPA, DANIELA, MASELLI, VALERIA, LIGRONE, ROBERTO, FULGIONE, DOMENICO, Di Donato S, Salvioli L, Liguori A, MODERN ASPECTS OF SUSTAINABLE MANAGEMENT OF GAME POPULATION, Dordevic N., Rippa, Daniela, Maselli, Valeria, Di Donato, S, Salvioli, L, Liguori, A, Ligrone, Roberto, and Fulgione, Domenico
Published: 2012

15. Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY

Author: Orth, M, Handley, Oj, Schwenke, C, Dunnett, S, Wild, Ej, Tabrizi, Sj, Landwehrmeyer, Gb, Bachoud Lévi AC, Bentivoglio, Ar, Biunno, I, Bonelli, R, Burgunder, Jm, Dunnett, Sb, Ferreira, Jj, Giuliano, J, Heiberg, A, Illmann, T, van Kammen, D, Landwehrmeye, Gb, Levey, J, Nielsen, Je, Päivärinta, M, Roos, Ra, Sebastián, Ar, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlström, J, Wallner, M, Barth, K, Guedes, Lc, Finisterra, Am, Garde, Mb, Bos, R, Burg, S, Ecker, D, Held, C, Koppers, K, Laurà, M, Descals, Am, Mclean, T, Mestre, T, Minster, S, Monza, D, Townhill, J, Padieu, H, Paterski, L, Peppa, N, Koivisto, Sp, Rialland, A, Røren, N, Sasinková, P, Cubillo, Pt, Tritsch, C, van Walsem MR, Witjes Ané MN, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Bonelli, Rm, Herranhof, B, Holl, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Scheibl, M, Hecht, K, Lilek, S, Müller, N, Schöggl, H, Ullah, J, Brugger, F, Hepperger, C, Hotter, A, Mahlknecht, P, Nocker, M, Seppi, K, Wenning, G, Buratti, L, Hametner, Em, Holas, C, Hussl, A, Mair, K, Poewe, W, Wolf, E, Zangerl, A, Braunwarth, Em, Sinadinosa, D, Walleczek, Am, Ladurner, G, Staffen, W, Ribaï, P, Flamez, A, Morez, V, de Raedt, S, Boogaerts, A, van Reijen, D, Klempíř, J, Kucharík, M, Roth, J, Šenkárová, Z, Hasholt, L, Hjermind, Le, Jakobsen, O, Nørremølle, A, Sørensen, Sa, Stokholm, J, Nielsen, J, Hiivola, H, Martikainen, K, Tuuha, K, Peippo, M, Sipponen, M, Ignatius, J, Kärppä, M, Åman, J, Santala, M, Allain, P, Guérid, Ma, Gohier, B, Olivier, A, Prundean, A, Scherer Gagou, C, Verny, C, Babiloni, B, Debruxelles, S, Goizet, C, Lafoucrière, D, De Bruycker, C, Carette, As, Decorte, E, Delval, A, Delliaux, M, Dujardin, K, Peter, M, Plomhouse, L, Simonin, C, Thibault Tanchou, S, Bellonet, M, Duru, C, Krystkowiak, P, Roussel, M, Wannepain, S, Azulay, Jp, Chabot, C, Delphini, M, Eusebio, A, Grosjean, H, Mundler, L, Nowak, M, Rudolf, G, Steinmetz, G, Tranchant, C, Wagner, C, Zimmermann, Ma, Calvas, F, Cheriet, S, Démonet, Jf, Galitzky, M, Kosinski, Cm, Milkereit, E, Probst, D, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Gelderblom, H, Priller, J, Prüss, H, Spruth, Ej, Andrich, J, Hoffmann, R, Kraus, Ph, Muth, S, Prehn, C, Saft, C, Salmen, S, Stamm, C, Steiner, T, Strassburger, K, Lange, H, Friedrich, A, Hunger, U, Löhle, M, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Lambeck, J, Zucker, B, Boelmans, K, Ganos, C, Hidding, U, Lewerenz, J, Münchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Diercks, G, Gorzolla, H, Schrader, C, Heinicke, W, Ribbat, M, Longinus, B, Bürk, K, Möller, Jc, Rissling, I, Peinemann, A, Städtler, M, Weindl, A, Bechtel, N, Beckmann, H, Bohlen, S, Hölzner, E, Reilmann, R, Rohm, S, Rumpf, S, Schepers, S, Beister, A, Dose, M, Hammer, K, Kieni, J, Leythaeuser, G, Marquard, R, Raab, T, Richter, S, Selimbegovic Turkovic, A, Schrenk, C, Schuierer, M, Wiedemann, A, Buck, A, Connemann, J, Eschenbach, C, Landwehrmeyer, B, Lezius, F, Nepper, S, Niess, A, Süssmuth, S, Trautmann, S, Weydt, P, Cormio, C, Difruscolo, O, Sciruicchio, V, Serpino, C, de Tommaso, M, Capellari, S, Cortelli, P, Gallassi, R, Poda, R, Rizzo, G, Scaglione, C, Bertini, E, Ghelli, E, Ginestroni, A, Massaro, F, Mechi, C, Paganini, M, Piacentini, S, Pradella, S, Romoli, Am, Sorbi, S, Abbruzzese, G, di Poggio MB, Di Maria, E, Ferrandes, G, Mandich, P, Marchese, R, Albanese, A, Di Bella, D, Di Donato, S, Gellera, C, Genitrini, S, Mariotti, C, Nanetti, L, Paridi, D, Soliveri, P, Tomasello, C, De Michele, G, Di Maio, L, Rinaldi, C, Russo, Cv, Salvatore, E, Tucci, T, Cannella, M, Codella, V, De Gregorio, F, De Nicola, N, Martino, T, Simonelli, M, Squitieri, F, Catalli, C, Di Giacopo, R, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Modoni, A, Piano, C, Chiara, P, Quaranta, D, Romano, Silvia, Soleti, F, Spadaro, M, van Hout MS, van Vugt JP, de Weert AM, Bolwijn, Jj, Dekker, M, Leenders, Kl, van Oostrom JC, Dumas, Em, Jurgens, Ck, van den Bogaard SJ, 't Hart EP, Kremer, B, Verstappen, Cc, Frich, J, Wehus, R, Aaserud, O, Borgerød, N, Bjørgo, K, Fannemel, M, Gørvell, P, Pro Koivisto, S, Retterstøl, L, Overland, T, Stokke, B, Bjørnevoll, I, Sando, Sb, Blinkenberg, Eø, Hauge, E, Tyvoll, H, Sitek, E, Slawek, J, Soltan, W, Boczarska Jedynak, M, Jasinska Myga, B, Opala, G, Kłodowska Duda, G, Banaszkiewicz, K, Szczudlik, A, Rudzińska, M, Wójcik, M, Dec, M, Krawczyk, M, Bryl, A, Ciesielska, A, Klimberg, A, Marcinkowski, J, Sempołowicz, J, Samara, H, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Antczak, J, Jachinska, K, Rakowicz, M, Richter, P, Ryglewicz, D, Witkowski, G, Zdzienicka, E, Sułek, A, Krysa, W, Júlio, F, Januário, C, Guedes, L, Coelho, M, Mendes, T, Valadas, A, Timóteo, Â, Costa, C, Vale, J, Cavaco, S, Damásio, J, Magalhães, M, Gago, M, Garrett, C, Guerra, Mr, Solis, P, Herrera, Cd, Garcia, Pm, Barrero, F, Morales, B, Cubo, E, Mariscal, N, Alonso Frech, F, Perez, Mr, Fenollar, M, García, Rg, Quiroga, Pp, Rivera, Sv, Villanueva, C, Bascuñana, M, Ventura, Mf, Ribas, Gg, de Yébenes JG, Moreno, Jl, Ruíz, Pj, Martínez Descals, A, Artiga, Mj, Sánchez, V, Perea, Mf, Lorenza, F, Torres, Mm, Reinante, G, Moreau, Lv, Barbera, Ma, Guia, Db, Hernanz, Lc, Catena, Jl, Ferrer, Pq, Carruesco, Gt, Bas, J, Busquets, N, Calopa, M, Buongiorno, Mt, Muñoz, E, Elorza, Md, López, Cd, Terol, Sd, Robert, Mf, Ruíz, Bg, Casado, Ag, Martínez, Ih, Viladrich, Cm, Càrdenas R, Pons i., Roca, E, Llesoy, Jr, Idiago, Jm, Vergara, Mr, García, Ss, Villa Riballo, A, González, Sg, Guisasola, Lm, Salvador, C, San Martín ES, Gorospe, A, Legarda, I, Arques, Pn, Rodríguez, Mj, Vives, B, Gaston, I, Ramos Arroyo MA, Moreno, Jm, Peña, Jc, Avarvarei, Ld, Bastida, Am, Recio, Mf, Vergé, Lr, Sánchez, Vs, Carrillo, F, Cáceres, Mt, Mir, P, Suarez, Mj, Bosca, M, Burguera, Ja, Garcia, Ac, Martínez, Lm, del Val JL, Loutfi, G, Olofsson, C, Stattin, El, Westman, L, Wikström, B, Höglund, A, Pålhagen, Se, Paucar, M, Sandström, B, Soltani, R, Svenningsson, P, Reza Soltani TW, Constantinescu, R, Fredlund, G, Høsterey Ugander, U, Neleborn Lingefjärd, L, Esmaeilzadeh, M, Tedroff, J, Winnberg, E, Björn, Y, Ekwall, C, Gøller, Ml, Johansson, A, Wiklund, L, Petersen, Å, Reimer, J, Widner, H, Burgunder, Y, Stebler, Y, Kaelin, A, Romero, I, Schüpbach, M, Zaugg, Sw, Jack, R, Matheson, K, Miedzybrodzka, Z, Rae, D, Simpson, S, Summers, F, Ure, A, Crooks, J, Curtis, A, de Souza Keylock, J, Rickards, H, Wright, J, Hayward, B, Sieradzan, K, Wright, A, Barker, Ra, Di Pietro, A, Fisher, K, Goodman, A, Hill, S, Kershaw, A, Mason, S, Paterson, N, Raymond, L, Bisson, J, Busse, M, Clenaghan, C, Ellison Rose, L, Handley, O, Hunt, S, Price, K, Rosser, A, Edwards, M, Hughes, T, Mcgill, M, Pearson, P, Porteous, M, Smith, P, Zeman, A, Causley, A, Harrower, T, Howcroft, D, Lambord, N, Rankin, J, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Rothery, J, Thomas, G, Yates, S, Miller, J, Ritchie, S, Burrows, L, Fletcher, A, Harding, A, Laver, F, Silva, M, Thomson, A, Burns, P, Chu, C, Evans, C, Hamer, S, Markova, I, Raman, A, Barnes, K, Hobson, E, Jamieson, S, Thomson, J, Toscano, J, Wild, S, Yardumian, P, Bourne, C, Clayton, C, Dipple, H, Clapton, J, Grant, D, Hallam, C, Middleton, J, Murch, A, Patino, D, Bate, L, Pate, L, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Patton, M, Peterson, M, Rose, S, Bruno, S, Chu, E, Doherty, K, Henley, S, Lahiri, N, Novak, M, Patel, A, Read, J, Rosser, E, Say, M, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Callaghan, J, Craufurd, D, Fullam, R, Howard, L, Huson, S, Oughton, E, Partington Jones, L, Snowden, J, Sollom, A, Stopford, C, Thompson, J, Trender Gerhad, I, Verstraelen, N, Westmoreland, L, Nemeth, Ah, Siuda, G, Harrison, D, Hughes, M, Parkinson, A, Soltysiak, B, Burn, J, Coleman, C, Majeed, T, Verstraelen Ritchie, N, Bandmann, O, Bradbury, A, Gill, P, Fairtlough, H, Fillingham, K, Foustanos, I, O'Donovan, K, Tidswell, K, Quarrell, O., Orth, M, European Huntington's Disease, Network, Handley, Oj, Schwenke, C, Dunnett, S, Wild, Ej, Tabrizi, Sj, Bachoud Lévi AC, Landwehrmeyer G. B., Bentivoglio, Ar, Biunno, I, Bonelli, R, Burgunder, Jm, Dunnett, Sb, Ferreira, Jj, Giuliano, J, Heiberg, A, Illmann, T, van Kammen, D, Landwehrmeye, Gb, Levey, J, Nielsen, Je, Päivärinta, M, Roos, Ra, Sebastián, Ar, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlström, J, Wallner, M, Barth, K, Guedes, Lc, Finisterra, Am, Garde, Mb, Bos, R, Burg, S, Ecker, D, Held, C, Koppers, K, Laurà, M, Descals, Am, Mclean, T, Mestre, T, Minster, S, Monza, D, Townhill, J, Padieu, H, Paterski, L, Peppa, N, Koivisto, Sp, Rialland, A, Røren, N, Sasinková, P, Cubillo, Pt, Tritsch, C, van Walsem, Mr, Witjes Ané, Mn, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Bonelli, Rm, Herranhof, B, Holl, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Scheibl, M, Hecht, K, Lilek, S, Müller, N, Schöggl, H, Ullah, J, Brugger, F, Hepperger, C, Hotter, A, Mahlknecht, P, Nocker, M, Seppi, K, Wenning, G, Buratti, L, Hametner, Em, Holas, C, Hussl, A, Mair, K, Poewe, W, Wolf, E, Zangerl, A, Braunwarth, Em, Sinadinosa, D, Walleczek, Am, Ladurner, G, Staffen, W, Ribaï, P, Flamez, A, Morez, V, de Raedt, S, Boogaerts, A, van Reijen, D, Klempíř, J, Kucharík, M, Roth, J, Šenkárová, Z, Hasholt, L, Hjermind, Le, Jakobsen, O, Nørremølle, A, Sørensen, Sa, Stokholm, J, Nielsen, J, Hiivola, H, Martikainen, K, Tuuha, K, Peippo, M, Sipponen, M, Ignatius, J, Kärppä, M, Åman, J, Santala, M, Allain, P, Guérid, Ma, Gohier, B, Olivier, A, Prundean, A, Scherer Gagou, C, Verny, C, Babiloni, B, Debruxelles, S, Goizet, C, Lafoucrière, D, De Bruycker, C, Carette, A, Decorte, E, Delval, A, Delliaux, M, Dujardin, K, Peter, M, Plomhouse, L, Simonin, C, Thibault Tanchou, S, Bellonet, M, Duru, C, Krystkowiak, P, Roussel, M, Wannepain, S, Azulay, Jp, Chabot, C, Delphini, M, Eusebio, A, Grosjean, H, Mundler, L, Nowak, M, Rudolf, G, Steinmetz, G, Tranchant, C, Wagner, C, Zimmermann, Ma, Calvas, F, Cheriet, S, Démonet, Jf, Galitzky, M, Kosinski, Cm, Milkereit, E, Probst, D, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Gelderblom, H, Priller, J, Prüss, H, Spruth, Ej, Andrich, J, Hoffmann, R, Kraus, Ph, Muth, S, Prehn, C, Saft, C, Salmen, S, Stamm, C, Steiner, T, Strassburger, K, Lange, H, Friedrich, A, Hunger, U, Löhle, M, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Lambeck, J, Zucker, B, Boelmans, K, Ganos, C, Hidding, U, Lewerenz, J, Münchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Diercks, G, Gorzolla, H, Schrader, C, Heinicke, W, Ribbat, M, Longinus, B, Bürk, K, Möller, Jc, Rissling, I, Peinemann, A, Städtler, M, Weindl, A, Bechtel, N, Beckmann, H, Bohlen, S, Hölzner, E, Reilmann, R, Rohm, S, Rumpf, S, Schepers, S, Beister, A, Dose, M, Hammer, K, Kieni, J, Leythaeuser, G, Marquard, R, Raab, T, Richter, S, Selimbegovic Turkovic, A, Schrenk, C, Schuierer, M, Wiedemann, A, Buck, A, Connemann, J, Eschenbach, C, Landwehrmeyer, B, Lezius, F, Nepper, S, Niess, A, Süssmuth, S, Trautmann, S, Weydt, P, Cormio, C, Difruscolo, O, Sciruicchio, V, Serpino, C, de Tommaso, M, Capellari, S, Cortelli, P, Gallassi, R, Poda, R, Rizzo, G, Scaglione, C, Bertini, E, Ghelli, E, Ginestroni, A, Massaro, F, Mechi, C, Paganini, M, Piacentini, S, Pradella, S, Romoli, Am, Sorbi, S, Abbruzzese, G, di Poggio, Mb, Di Maria, E, Ferrandes, G, Mandich, P, Marchese, R, Albanese, A, Di Bella, D, Di Donato, S, Gellera, C, Genitrini, S, Mariotti, C, Nanetti, L, Paridi, D, Soliveri, P, Tomasello, C, DE MICHELE, Giuseppe, Di Maio, L, Rinaldi, Carlo, Russo, Cv, Salvatore, Elena, Tucci, T, Cannella, M, Codella, V, De Gregorio, F, De Nicola, N, Martino, T, Simonelli, M, Squitieri, F, Catalli, C, Di Giacopo, R, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Modoni, A, Piano, C, Chiara, P, Quaranta, D, Romano, S, Soleti, F, Spadaro, M, van Hout, M, van Vugt, Jp, de Weert, Am, Bolwijn, Jj, Dekker, M, Leenders, Kl, van Oostrom, Jc, Dumas, Em, Jurgens, Ck, van den Bogaard, Sj, 't Hart, Ep, Kremer, B, Verstappen, Cc, Frich, J, Wehus, R, Aaserud, O, Borgerød, N, Bjørgo, K, Fannemel, M, Gørvell, P, Pro Koivisto, S, Retterstøl, L, Overland, T, Stokke, B, Bjørnevoll, I, Sando, Sb, Blinkenberg, Eø, Hauge, E, Tyvoll, H, Sitek, E, Slawek, J, Soltan, W, Boczarska Jedynak, M, Jasinska Myga, B, Opala, G, Kłodowska Duda, G, Banaszkiewicz, K, Szczudlik, A, Rudzińska, M, Wójcik, M, Dec, M, Krawczyk, M, Bryl, A, Ciesielska, A, Klimberg, A, Marcinkowski, J, Sempołowicz, J, Samara, H, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Antczak, J, Jachinska, K, Rakowicz, M, Richter, P, Ryglewicz, D, Witkowski, G, Zdzienicka, E, Sułek, A, Krysa, W, Júlio, F, Januário, C, Guedes, L, Coelho, M, Mendes, T, Valadas, A, Timóteo, Â, Costa, C, Vale, J, Cavaco, S, Damásio, J, Magalhães, M, Gago, M, Garrett, C, Guerra, Mr, Solis, P, Herrera, Cd, Garcia, Pm, Barrero, F, Morales, B, Cubo, E, Mariscal, N, Alonso Frech, F, Perez, Mr, Fenollar, M, García, Rg, Quiroga, Pp, Rivera, Sv, Villanueva, C, Bascuñana, M, Ventura, Mf, Ribas, Gg, de Yébenes, Jg, Moreno, Jl, Ruíz, Pj, Martínez Descals, A, Artiga, Mj, Sánchez, V, Perea, Mf, Lorenza, F, Torres, Mm, Reinante, G, Moreau, Lv, Barbera, Ma, Guia, Db, Hernanz, Lc, Catena, Jl, Ferrer, Pq, Carruesco, Gt, Bas, J, Busquets, N, Calopa, M, Buongiorno, Mt, Muñoz, E, Elorza, Md, López, Cd, Terol, Sd, Robert, Mf, Ruíz, Bg, Casado, Ag, Martínez, Ih, Viladrich, Cm, Pons i., Càrdenas R, Roca, E, Llesoy, Jr, Idiago, Jm, Vergara, Mr, García, S, Villa Riballo, A, González, Sg, Guisasola, Lm, Salvador, C, San Martín, E, Gorospe, A, Legarda, I, Arques, Pn, Rodríguez, Mj, Vives, B, Gaston, I, Ramos Arroyo, Ma, Moreno, Jm, Peña, Jc, Avarvarei, Ld, Bastida, Am, Recio, Mf, Vergé, Lr, Carrillo, F, Cáceres, Mt, Mir, P, Suarez, Mj, Bosca, M, Burguera, Ja, Garcia, Ac, Martínez, Lm, del Val, Jl, Loutfi, G, Olofsson, C, Stattin, El, Westman, L, Wikström, B, Höglund, A, Pålhagen, Se, Paucar, M, Sandström, B, Soltani, R, Svenningsson, P, Reza Soltani, Tw, Constantinescu, R, Fredlund, G, Høsterey Ugander, U, Neleborn Lingefjärd, L, Esmaeilzadeh, M, Tedroff, J, Winnberg, E, Björn, Y, Ekwall, C, Gøller, Ml, Johansson, A, Wiklund, L, Petersen, Å, Reimer, J, Widner, H, Burgunder, Y, Stebler, Y, Kaelin, A, Romero, I, Schüpbach, M, Zaugg, Sw, Jack, R, Matheson, K, Miedzybrodzka, Z, Rae, D, Simpson, S, Summers, F, Ure, A, Crooks, J, Curtis, A, de Souza Keylock, J, Rickards, H, Wright, J, Hayward, B, Sieradzan, K, Wright, A, Barker, Ra, Di Pietro, A, Fisher, K, Goodman, A, Hill, S, Kershaw, A, Mason, S, Paterson, N, Raymond, L, Bisson, J, Busse, M, Clenaghan, C, Ellison Rose, L, Handley, O, Hunt, S, Price, K, Rosser, A, Edwards, M, Hughes, T, Mcgill, M, Pearson, P, Porteous, M, Smith, P, Zeman, A, Causley, A, Harrower, T, Howcroft, D, Lambord, N, Rankin, J, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Rothery, J, Thomas, G, Yates, S, Miller, J, Ritchie, S, Burrows, L, Fletcher, A, Harding, A, Laver, F, Silva, M, Thomson, A, Burns, P, Chu, C, Evans, C, Hamer, S, Markova, I, Raman, A, Barnes, K, Hobson, E, Jamieson, S, Thomson, J, Toscano, J, Wild, S, Yardumian, P, Bourne, C, Clayton, C, Dipple, H, Clapton, J, Grant, D, Hallam, C, Middleton, J, Murch, A, Patino, D, Bate, L, Pate, L, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Patton, M, Peterson, M, Rose, S, Bruno, S, Chu, E, Doherty, K, Henley, S, Lahiri, N, Novak, M, Patel, A, Read, J, Rosser, E, Say, M, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Callaghan, J, Craufurd, D, Fullam, R, Howard, L, Huson, S, Oughton, E, Partington Jones, L, Snowden, J, Sollom, A, Stopford, C, Thompson, J, Trender Gerhad, I, Verstraelen, N, Westmoreland, L, Nemeth, Ah, Siuda, G, Harrison, D, Hughes, M, Parkinson, A, Soltysiak, B, Burn, J, Coleman, C, Majeed, T, Verstraelen Ritchie, N, Bandmann, O, Bradbury, A, Gill, P, Fairtlough, H, Fillingham, K, Foustanos, I, O'Donovan, K, Tidswell, K, Quarrell, O., Faculty of Economic and Social Sciences and Solvay Business School, Neurology, Clinical sciences, Neuroprotection & Neuromodulation, Orth M., European Huntington's Disease Network, Handley O.J., Schwenke C., Dunnet S., Wild E.J., Tabrizi S.J., Landwehrmeyer G.B., Capellari S., Cortelli P., Gallassi R., Poda R., Rizzo G., and Scaglione C.
Subjects: Gerontology, medicine.medical_specialty, Neurology, International Cooperation, Disease, Irritability, Data Collection/methods, Huntington's disease, medicine, Humans, Registries, Psychiatry, Suicidal ideation, Disease burden, business.industry, Data Collection, medicine.disease, Europe, Huntington Disease, Psychiatry and Mental health, European Huntington's Disease Network, Surgery, Observational study, Neurology (clinical), medicine.symptom, business
Abstract: BACKGROUND: Huntington's disease (HD) is a rare triplet repeat (CAG) disorder. Advanced, multi-centre, multi-national research frameworks are needed to study simultaneously multiple complementary aspects of HD. This includes the natural history of HD, its management and the collection of clinical information and biosamples for research. METHODS: We report on cross-sectional data of the first 1766 participants in REGISTRY, the European Huntington's Disease Network's (EHDN), multi-lingual, multi-national prospective observational study of HD in Europe. Data collection (demographics, phenotype, genotype, medication, co-morbidities, biosamples) followed a standard protocol. RESULTS: Phenotype, and the HD genotype, of manifest HD participants across different European regions was similar. Motor onset was most common (48%) with a non-motor onset in more than a third of participants. Motor signs increased, and cognitive abilities and functional capacity declined as the disease burden (CAGn-35.5) X age) increased. A life-time history of behavioural symptoms was common, but the behavioural score was not related to disease burden. One fifth of participants had severe psychiatric problems, e.g. suicidal ideation and attempts, and/or irritability/aggression, with psychosis being less common. Participants on anti-dyskinetic medication had a higher motor and lower cognitive score, were older, and more prone to physical trauma. A higher motor and a lower cognitive score predicted more advanced disease. CONCLUSIONS: The unparalleled collection of clinical data and biomaterials within the EHDN's REGISTRY can expedite the search for disease modifiers (genetic and environmental) of age at onset and disease progression that could be harnessed for the development of novel treatments.
Published: 2011

16. NMDA receptor gene variations as modifiers in Huntington disease: a replication study

Author: Saft C, Epplen JT, Wieczorek S, Landwehrmeyer GB, Roos RA, de Yebenes JG, Dose M, Tabrizi SJ, Craufurd D, REGISTRY Investigators of the European Huntington's Disease Network, Arning L. CollaboratorsBarth K, Bascuñana Garde M, Bos R, Ecker D, Handley O, Heinonen N, Held C, Laurà M, Martínez Descals A, Mestre T, Monza D, Naji J, Orth M, Padieu H, Pro Koivisto S, Rialland A, Sasinková P, Trigo Cubillo P, van Walsem M, Witjes Ané MN, Zielonka D, Bonelli R, Herranhof B, Hödl A, Kapfhammer HP, Koppitz M, Magnet M, Otti D, Painold A, Reisinge K, Brugger F, Hepperger C, Hotter A, Mahlknecht P, Nocker M, Seppi K, Wenning G, Ribaï P, Verellen Dumoulin C, Klempí?? J, Kucharik M, Roth J, Hasholt L, Hjermind L, Jakobsen O, Nielsen J, Nørremølle A, Sørensen S, Stokholm J, Hiivola H, Martikainen K, Tuuha K, Kosinski C, Probst D, Sass C, Schiefer J, Schlangen C, Werner C, Lange H, Löhle M, Storch A, Wolz A, Wolz M, Lambeck J, Zucker B, Münchau A, Stubbe L, Zittel S, Heinicke W, Longinus B, Peinemann A, Städtler M, Weindl A, Bohlen S, Reilmann R, Beister A, Hammer K, Leythaeuser G, Marquard R, Raab T, Schrenk C, Schuierer M, Wiedemann A, Eschenbach C, Landwehrmeyer B, Lezius F, Trautmann S, Cormio C, Difruscolo O, de Tommaso M, Sciruicchio V, Serpino C, Bertini E, Mechi C, Paganini M, Piacentini S, Romoli M, Sorbi S, Abbruzzese G, Di Maria E, Bandettini di Poggio Giovanna Ferrandes M, Mandich P, Marchese R, Albanese A, Di Donato S, Mariotti C, Soliveri P, Gellera C, Tomasello C, Nanetti L, Luigi D, Squitieri F, Martino T, Orobello S, Alberti S, De Gregorio F, Codella V, De Nicola N, Maglione V, Bentivoglio A, Fasano A, Frontali M, Guidubaldi A, Ialongo T, Jacopini G, Loria G, Piano C, Romano S, Soleti F, Spadaro M, Zinzi P, Heiberg A, Bjørgo K, Fannemel M, Gørvell P, Retterstøl L, Bjørnevoll I, Botne Sando S, Slawek J, Soltan W, Sitek E, Boczarska Jedynak M, Jasinska Myga B, Opala G, Szczudlik A, Rudzi??ska M, Wójcik M, Banaszkiewicz K, Krawczyk M, Marcinkowski J, Ciesielska A, Sempo??owicz J, Bryl A, Klimberg A, Janik P, Kalbarczyk A, Kwiecinski H, Jamrozik Z, Witkowski G, Ryglewicz D, Antczak J, Rakowicz M, Jachinska K, Zdzienicka E, Richter P, Zaremba J, Coelho M, Ferreira J, Rosa M, Valadas A, Gago M, Garrett C, Guerra M, Barrero F, Morales B, López Sendón Moreno J, Cubo E, Mariscal N, Sánchez J, García R, Villanueva C, Pin Quiroga P, Bascuñana M, Fatàas M, Luis López Moreno J, García Ribas G, Schwarz C, de Yébenes JG, José Saiz Artiga M, García Ruíz P, Sánchez V, Fortuna Alcaraz L, Fuensanta Noguera Perea M, Martirio Antequera Torres M, Vivancos Moreau L, Rojo Sebastian A, Aguilar Barbera M, Badenes Guia D, Casas Hernanz L, Tome Carruesco G, Suarez San Martin E, López Catena J, Bas J, Calopa M, Busquets N, Navas Arques P, Gorospe A, Legarda I, José Torres Rodríguez M, Vives B, Carrillo F, Mir P, José Lama Suarez M, Loutfi G, Stattin EL, Westman L, Wikström B, Pålhagen S, Björnsson E, Burgunder JM, Romero I, Schüpbach M, Weber Zaugg S, van Hout M, van Vugt J, Marit de Weert A, Bolwijn JJ, Dekker M, Leenders KL, van Oostrom JC, Dumas E, Jurgens C, van den Bogaard SA, Roos R, Kremer B, Verstappen CC, de Souza J, Rickards H, Wright J, Barker R, Fisher K, Goyder Goodman A, Hill S, Kershaw A, Mason S, Paterson N, Raymond L, Bisson J, Busse M, Ellison Rose L, Hunt S, Price K, Rosser A, Dunnett S, Edwards M, De Sousa P, Hughes T, McGill M, Pearson P, Porteous M, Smith P, Zeman A, Lambord N, Rankin J, Burrows L, Fletcher A, Laver F, Silva M, Thomson A, Andrews T, Dougherty A, Kavalier F, Golding C, Lashwood A, Robertson D, Ruddy D, Whaite A, Patton M, Patterson M, Bourne C, Clayton C, Dipple H, Clapton J, Grant J, Gross D, Hallam C, Middleton J, Murch A, Patino D, Bruno S, Chu E, Doherty K, Lahiri N, Novak M, Patel A, Tabrizi S, Taylor R, Warner T, Wild E, Arran N, Fullam R, Howard L, Huson S, Partington Jones L, Verstraelen N, Snowden J, Sollom A, Stopford C, Thompson J, Westmoreland L, Nemeth A, Siuda G, Bandmann O, Bradbury A, Fillingham K, Foustanos I, Tidswell K, Quarrell O., DE MICHELE, GIUSEPPE, RINALDI, CARLO, RUSSO, CINZIA, SALVATORE, ELENA, TUCCI, TECLA, Saft C, Epplen JT, Wieczorek S, Landwehrmeyer GB, Roos RA, de Yebenes JG, Dose M, Tabrizi SJ, Craufurd D, REGISTRY Investigators of the European Huntington's Disease Network, Arning L. Collaborators (348), Saft, C, Epplen, Jt, Wieczorek, S, Landwehrmeyer, Gb, Roos, Ra, de Yebenes, Jg, Dose, M, Tabrizi, Sj, Craufurd, D, Russo, CINZIA VALERIA, Arning L., CollaboratorsBarth K, Bascuñana Garde, M, Bos, R, Ecker, D, Handley, O, Heinonen, N, Held, C, Laurà, M, Martínez Descals, A, Mestre, T, Monza, D, Naji, J, Orth, M, Padieu, H, Pro Koivisto, S, Rialland, A, Sasinková, P, Trigo Cubillo, P, van Walsem, M, Witjes Ané, Mn, Zielonka, D, Bonelli, R, Herranhof, B, Hödl, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinge, K, Brugger, F, Hepperger, C, Hotter, A, Mahlknecht, P, Nocker, M, Seppi, K, Wenning, G, Ribaï, P, Verellen Dumoulin, C, Klempí??, J, Kucharik, M, Roth, J, Hasholt, L, Hjermind, L, Jakobsen, O, Nielsen, J, Nørremølle, A, Sørensen, S, Stokholm, J, Hiivola, H, Martikainen, K, Tuuha, K, Kosinski, C, Probst, D, Sass, C, Schiefer, J, Schlangen, C, Werner, C, Lange, H, Löhle, M, Storch, A, Wolz, A, Wolz, M, Lambeck, J, Zucker, B, Münchau, A, Stubbe, L, Zittel, S, Heinicke, W, Longinus, B, Peinemann, A, Städtler, M, Weindl, A, Bohlen, S, Reilmann, R, Beister, A, Hammer, K, Leythaeuser, G, Marquard, R, Raab, T, Schrenk, C, Schuierer, M, Wiedemann, A, Eschenbach, C, Landwehrmeyer, B, Lezius, F, Trautmann, S, Cormio, C, Difruscolo, O, de Tommaso, M, Sciruicchio, V, Serpino, C, Bertini, E, Mechi, C, Paganini, M, Piacentini, S, Romoli, M, Sorbi, S, Abbruzzese, G, Di Maria, E, Bandettini di Poggio Giovanna Ferrandes, M, Mandich, P, Marchese, R, Albanese, A, Di Donato, S, Mariotti, C, Soliveri, P, Gellera, C, Tomasello, C, Nanetti, L, Luigi, D, DE MICHELE, Giuseppe, Rinaldi, Carlo, Russo, Cinzia, Salvatore, Elena, Tucci, Tecla, Squitieri, F, Martino, T, Orobello, S, Alberti, S, De Gregorio, F, Codella, V, De Nicola, N, Maglione, V, Bentivoglio, A, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Piano, C, Romano, S, Soleti, F, Spadaro, M, Zinzi, P, Heiberg, A, Bjørgo, K, Fannemel, M, Gørvell, P, Retterstøl, L, Bjørnevoll, I, Botne Sando, S, Slawek, J, Soltan, W, Sitek, E, Boczarska Jedynak, M, Jasinska Myga, B, Opala, G, Szczudlik, A, Rudzi??ska, M, Wójcik, M, Banaszkiewicz, K, Krawczyk, M, Marcinkowski, J, Ciesielska, A, Sempo??owicz, J, Bryl, A, Klimberg, A, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Witkowski, G, Ryglewicz, D, Antczak, J, Rakowicz, M, Jachinska, K, Zdzienicka, E, Richter, P, Zaremba, J, Coelho, M, Ferreira, J, Rosa, M, Valadas, A, Gago, M, Garrett, C, Guerra, M, Barrero, F, Morales, B, López Sendón Moreno, J, Cubo, E, Mariscal, N, Sánchez, J, García, R, Villanueva, C, Pin Quiroga, P, Bascuñana, M, Fatàas, M, Luis López Moreno, J, García Ribas, G, Schwarz, C, de Yébenes, Jg, José Saiz Artiga, M, García Ruíz, P, Sánchez, V, Fortuna Alcaraz, L, Fuensanta Noguera Perea, M, Martirio Antequera Torres, M, Vivancos Moreau, L, Rojo Sebastian, A, Aguilar Barbera, M, Badenes Guia, D, Casas Hernanz, L, Tome Carruesco, G, Suarez San Martin, E, López Catena, J, Bas, J, Calopa, M, Busquets, N, Navas Arques, P, Gorospe, A, Legarda, I, José Torres Rodríguez, M, Vives, B, Carrillo, F, Mir, P, José Lama Suarez, M, Loutfi, G, Stattin, El, Westman, L, Wikström, B, Pålhagen, S, Björnsson, E, Burgunder, Jm, Romero, I, Schüpbach, M, Weber Zaugg, S, van Hout, M, van Vugt, J, Marit de Weert, A, Bolwijn, Jj, Dekker, M, Leenders, Kl, van Oostrom, Jc, Dumas, E, Jurgens, C, van den Bogaard, Sa, Roos, R, Kremer, B, Verstappen, Cc, de Souza, J, Rickards, H, Wright, J, Barker, R, Fisher, K, Goyder Goodman, A, Hill, S, Kershaw, A, Mason, S, Paterson, N, Raymond, L, Bisson, J, Busse, M, Ellison Rose, L, Hunt, S, Price, K, Rosser, A, Dunnett, S, Edwards, M, De Sousa, P, Hughes, T, Mcgill, M, Pearson, P, Porteous, M, Smith, P, Zeman, A, Lambord, N, Rankin, J, Burrows, L, Fletcher, A, Laver, F, Silva, M, Thomson, A, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Patton, M, Patterson, M, Bourne, C, Clayton, C, Dipple, H, Clapton, J, Grant, J, Gross, D, Hallam, C, Middleton, J, Murch, A, Patino, D, Bruno, S, Chu, E, Doherty, K, Lahiri, N, Novak, M, Patel, A, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Fullam, R, Howard, L, Huson, S, Partington Jones, L, Verstraelen, N, Snowden, J, Sollom, A, Stopford, C, Thompson, J, Westmoreland, L, Nemeth, A, Siuda, G, Bandmann, O, Bradbury, A, Fillingham, K, Foustanos, I, Tidswell, K, and Quarrell, O.
Abstract: Several candidate modifier genes which, in addition to the pathogenic CAG repeat expansion, influence the age at onset (AO) in Huntington disease (HD) have already been described. The aim of this study was to replicate association of variations in the N-methyl D-aspartate receptor subtype genes GRIN2A and GRIN2B in the "REGISTRY" cohort from the European Huntington Disease Network (EHDN). The analyses did replicate the association reported between the GRIN2A rs2650427 variation and AO in the entire cohort. Yet, when subjects were stratified by AO subtypes, we found nominally significant evidence for an association of the GRIN2A rs1969060 variation and the GRIN2B rs1806201 variation. These findings further implicate the N-methyl D-aspartate receptor subtype genes as loci containing variation associated with AO in HD.
Published: 2011

17. Cerebral and extracerebral cholesterol biosynthesis is impaired in HD patients

Author: Leoni, V, Mariotti, C, Nanetti, L, Tomasello, C, Salvatore, E, Di Michele, G, Soletti, F, Bentivoglio, AR, Bandettini del Poggio, M, Abbruzzese, G, Piacentini, S, Squitieri, F, Valenza, M, Cattaneo, E, Di Donato, S, Leoni, V, Mariotti, C, Nanetti, L, Tomasello, C, Salvatore, E, Di Michele, G, Soletti, F, Bentivoglio, A, Bandettini del Poggio, M, Abbruzzese, G, Piacentini, S, Squitieri, F, Valenza, M, Cattaneo, E, and Di Donato, S
Subjects: mass spectrometry, oxysterols, organic acids, fatty acids, metabolomics, cholesterol, neurodegenerative diseases
Published: 2010

18. Observing Huntington's Disease: the European Huntington's Disease Network's REGISTRY

Author: Orth M, Handley OJ, Schwenke C, Dunnett SB, Craufurd D, Ho AK, Wild E, Tabrizi SJ, Landwehrmeyer GB, Investigators of the European Huntington's Disease N.e.t.w.o.r.k. CollaboratorsBonelli R, Herranhof B, Hödl A, Koppitz M, Magnet M, Otti D, Painold A, Reisinger K, Flamez A, Morez V, de Raedt S, Ribaï P, Verellen Dumoulin C, Vandenberghe W, van Reijen D, Hasholt L, Hjermind L, Jakobsen O, Nørremølle A, Sørensen S, Stokholm J, Peippo M, Sipponen M, Hiivola H, Martikainen K, Tuuha K, Kosinski C, Probst D, Sass C, Schiefer J, Schlangen C, Werner C, Priller J, Prüss H, Andrich J, Hoffmann R, Kraus P, Prehn C, Saft C, Salmen S, Strassburger K, Lange H, Hunger U, Löhle M, Schmidt S, Storch A, Wolz A, Wolz M, Lammbeck J, Zucker B, Hidding U, Münchau A, Stubbe L, Heinicke W, Longinus B, Möller J, Rissling I, Peinemann A, Städtler M, Weindl A, Bohlen S, Reilmann R, Beister A, Dose M, Leythaeuser G, Marquard R, Schrenk C, Schuierer M, Wiedemann A, Ecker D, Landwehrmeyer B, Lezius F, Trautmann S, Bertini E, Mechi C, Paganini M, Piacentini S, Romoli M, Sorbi S, Abbruzzese G, di Poggio M, Di Maria E, Ferrandes G, Mandich P, Marchese R, Albanese A, Di Donato S, Mariotti C, Soliveri P, Carlo R, Luigi D, Rinaldi C, Tucci T, Ciarmiello A, Martino T, Simonelli M, Squitieri F, Bentivoglio A, Fasano A, Frontali M, Guidubaldi A, Ialongo T, Jacopini G, Loria G, Piano C, Romano S, Soleti F, Spadaro M, Zinzi P, Heiberg A, van Walsem M, Bjørgo K, Fannemel M, Lars Retterstøl P, Bjørnevoll I, Sando S, Sitek E, Slawek J, Soltan W, Boczarska Jedynak M, Jasinska Myga B, Opala G, Rudzińska M, Szczudlik A, Wójcik M, Banaszkiewicz K, Bryl A, Ciesielska A, Klimberg A, Kozubski W, Marcinkowski J, Sempołowicz P, Zielonka D, Janik P, Kalbarczyk A, Kwiecinski H, Jamrozik Z, Antczak J, Witkowski G, Rakowicz M, Richter P, Ryglewicz D, Zaremba J, Zdzienicka E, Costa C, Coelho M, Ferreira J, Mestre T, Rosa M, Valadas A, Gago M, Garrett C, Guerra M, Bas J, Calopa M, Barberà M, Badenes D, Casas L, Arroyo S, Vara J, Krupinski J, López J, Obdulia M, Ferrer P, Sebastián A, Contreras S, Carruesco G, Cubo E, Mariscal N, Sánchez J, Barrero F, Morales B, López Sendón Moreno J, García RR, Quiroga P, Villanueva C, Ruíz Espiga PJ, Martínez A, Artiga MS, Sánchez V, Bascuñana M, Fatas M, Ribas G, de Yébenes J, López Moreno J, Schwarz C, Cubillo P, Arques P, Gorospe A, Legarda I, Torres Rodríguez M, Gaston I, Ramos Arroyo MA, Del Val JL, Martinez L, Burgunder JM, Romero I, Schüpbach M, Zaugg SW, van Hout MS, van Vugt JP, de Weert AM, Bolwijn JJ, Dekker M, Leenders KL, van Oostrom JC, Bos R, Dumas E, Jurgens CK, Roos RA, Witjes Ané MN, Matheson K, Rae D, Simpson S, Summers F, Ure A, Curtis A, Keylock J, Rickards H, Wright J, Barker R, Fisher K, Goodman AG, Hill S, Kershaw A, Mason S, Paterson N, Raymond L, Bisson J, Busse M, Ellison Rose L, Handley O, Dunnett S, Naji J, Price K, Rosser A, Edwards M, De Sousa P, Hughes T, McGill M, Pearson P, Porteous M, Zema A, Brockie P, Foster J, Johns N, McKenzie S, Thomas G, Burrows L, Fletcher A, Laver F, Silva M, Thomson A, Chu C, Hobson E, Jamieson S, Toscano J, Wild S, Yardumian P, Bourne C, Clayton C, Dipple H, Grant J, Gross D, Hallam C, Middleton J, Murch A, Andrews T, Dougherty A, Kavalier F, Golding C, Lashwood A, Robertson D, Ruddy D, Whaite A, Bruno S, Henley S, Novak M, O'Driscoll C, Patel A, Rosser E, Tabrizi S, Taylor R, Warner T, Arran N, Fullam R, Howard L, Huson S, Partington Jones L, Ritchie N, Snowden J, Solom A, Stopford C, Thompson J, Westmoreland L, Nemeth A, Siuda G, Bandmann O, Bradbury A, Fillingham K, Foustanos I, Quarrell O, Reynders H, Robertson L, Tidswell K., DE MICHELE, GIUSEPPE, SALVATORE, ELENA, Orth M, Handley OJ, Schwenke C, Dunnett SB, Craufurd D, Ho AK, Wild E, Tabrizi SJ, Landwehrmeyer GB, Investigators of the European Huntington's Disease Network. Collaborators (314), Orth, M, Handley, Oj, Schwenke, C, Dunnett, Sb, Craufurd, D, Ho, Ak, Wild, E, Tabrizi, Sj, Landwehrmeyer, Gb, CollaboratorsBonelli R, Investigators of the European Huntington's Disease N. e. t. w. o. r. k., Herranhof, B, Hödl, A, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Flamez, A, Morez, V, de Raedt, S, Ribaï, P, Verellen Dumoulin, C, Vandenberghe, W, van Reijen, D, Hasholt, L, Hjermind, L, Jakobsen, O, Nørremølle, A, Sørensen, S, Stokholm, J, Peippo, M, Sipponen, M, Hiivola, H, Martikainen, K, Tuuha, K, Kosinski, C, Probst, D, Sass, C, Schiefer, J, Schlangen, C, Werner, C, Priller, J, Prüss, H, Andrich, J, Hoffmann, R, Kraus, P, Prehn, C, Saft, C, Salmen, S, Strassburger, K, Lange, H, Hunger, U, Löhle, M, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Lammbeck, J, Zucker, B, Hidding, U, Münchau, A, Stubbe, L, Heinicke, W, Longinus, B, Möller, J, Rissling, I, Peinemann, A, Städtler, M, Weindl, A, Bohlen, S, Reilmann, R, Beister, A, Dose, M, Leythaeuser, G, Marquard, R, Schrenk, C, Schuierer, M, Wiedemann, A, Ecker, D, Landwehrmeyer, B, Lezius, F, Trautmann, S, Bertini, E, Mechi, C, Paganini, M, Piacentini, S, Romoli, M, Sorbi, S, Abbruzzese, G, di Poggio, M, Di Maria, E, Ferrandes, G, Mandich, P, Marchese, R, Albanese, A, Di Donato, S, Mariotti, C, Soliveri, P, Carlo, R, Luigi, D, DE MICHELE, Giuseppe, Rinaldi, C, Salvatore, Elena, Tucci, T, Ciarmiello, A, Martino, T, Simonelli, M, Squitieri, F, Bentivoglio, A, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Piano, C, Romano, S, Soleti, F, Spadaro, M, Zinzi, P, Heiberg, A, van Walsem, M, Bjørgo, K, Fannemel, M, Lars Retterstøl, P, Bjørnevoll, I, Sando, S, Sitek, E, Slawek, J, Soltan, W, Boczarska Jedynak, M, Jasinska Myga, B, Opala, G, Rudzińska, M, Szczudlik, A, Wójcik, M, Banaszkiewicz, K, Bryl, A, Ciesielska, A, Klimberg, A, Kozubski, W, Marcinkowski, J, Sempołowicz, P, Zielonka, D, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Antczak, J, Witkowski, G, Rakowicz, M, Richter, P, Ryglewicz, D, Zaremba, J, Zdzienicka, E, Costa, C, Coelho, M, Ferreira, J, Mestre, T, Rosa, M, Valadas, A, Gago, M, Garrett, C, Guerra, M, Bas, J, Calopa, M, Barberà, M, Badenes, D, Casas, L, Arroyo, S, Vara, J, Krupinski, J, López, J, Obdulia, M, Ferrer, P, Sebastián, A, Contreras, S, Carruesco, G, Cubo, E, Mariscal, N, Sánchez, J, Barrero, F, Morales, B, López Sendón Moreno, J, García, Rr, Quiroga, P, Villanueva, C, Ruíz Espiga, Pj, Martínez, A, Artiga, M, Sánchez, V, Bascuñana, M, Fatas, M, Ribas, G, de Yébenes, J, López Moreno, J, Schwarz, C, Cubillo, P, Arques, P, Gorospe, A, Legarda, I, Torres Rodríguez, M, Gaston, I, Ramos Arroyo, Ma, Del Val, Jl, Martinez, L, Burgunder, Jm, Romero, I, Schüpbach, M, Zaugg, Sw, van Hout, M, van Vugt, Jp, de Weert, Am, Bolwijn, Jj, Dekker, M, Leenders, Kl, van Oostrom, Jc, Bos, R, Dumas, E, Jurgens, Ck, Roos, Ra, Witjes Ané, Mn, Matheson, K, Rae, D, Simpson, S, Summers, F, Ure, A, Curtis, A, Keylock, J, Rickards, H, Wright, J, Barker, R, Fisher, K, Goodman, Ag, Hill, S, Kershaw, A, Mason, S, Paterson, N, Raymond, L, Bisson, J, Busse, M, Ellison Rose, L, Handley, O, Dunnett, S, Naji, J, Price, K, Rosser, A, Edwards, M, De Sousa, P, Hughes, T, Mcgill, M, Pearson, P, Porteous, M, Zema, A, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Thomas, G, Burrows, L, Fletcher, A, Laver, F, Silva, M, Thomson, A, Chu, C, Hobson, E, Jamieson, S, Toscano, J, Wild, S, Yardumian, P, Bourne, C, Clayton, C, Dipple, H, Grant, J, Gross, D, Hallam, C, Middleton, J, Murch, A, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Bruno, S, Henley, S, Novak, M, O'Driscoll, C, Patel, A, Rosser, E, Tabrizi, S, Taylor, R, Warner, T, Arran, N, Fullam, R, Howard, L, Huson, S, Partington Jones, L, Ritchie, N, Snowden, J, Solom, A, Stopford, C, Thompson, J, Westmoreland, L, Nemeth, A, Siuda, G, Bandmann, O, Bradbury, A, Fillingham, K, Foustanos, I, Quarrell, O, Reynders, H, Robertson, L, and Tidswell, K.
Published: 2010

19. Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease

Author: Aziz, Na, Jurgens, Ck, Landwehrmeyer, Gb, Ehdn, Rsg, van Roon Mom, Wm, van Ommen, Gj, Stijnen, T, Roos, Ra, Bachoud Levi, Ac, Bentivoglio, Ar, Biunno, I, Bonelli, R, Burgunder, Jm, Dunnett, Sb, Ferreira, J, Handley, Oj, Heiberg, A, Illmann, T, Levey, J, Nielsen, Je, Päivärinta, M, Rojo Sebastian, A, Tabrizi, Sj, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlstrom, J, Schwenke, C, Orth, M, Wallner, M, Barth, K, Bascunana Garde, M, Ros, R, Ecker, D, Heinonen, N, Held, C, Laura, M, Martinez Descals, A, Mestre, T, Monza, D, Naji, J, Padieu, H, Pro Koivisto, S, Rialland, A, Sasinkova, P, Trigo Cubillo, P, van Walsem, M, Witjes Ane, Mn, Zielonka, D, Bonelli, Rm, Herranhof, B, Hodl, A, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Flamez, A, Morez, V, de Raedt, S, Ribai, P, Van Reijen, D, Hasholt, L, Hjermind, Le, Jakobsen, O, Norremolle, A, Sorensen, Sa, Stokholm, J, Peippo, M, Sipponen, M, Hiivola, H, Martikainen, K, Tuuha, K, Kosinski, Cm, Probst, D, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Priller, J, Prüb, H, Andrich, J, Hoffmann, R, Kraus, P, Prehn, C, Saft, C, Salmen, S, Strabburger, K, Lange, H, Hunger, U, Löhle, M, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Lammbeck, J, Zucker, B, Hidding, U, Münchau, A, Stubbe, L, Heinicke, W, Longinus, B, Möller, Jc, Rissling, I, Peinemann, A, Städtler, M, Weindl, A, Bohlen, S, Reilmann, R, Beuster, A, Dose, M, Leythaeuser, G, Marquard, R, Schrenk, C, Schuierer, M, Wiedemann, A, Landwehrmeyer, B, Lezius, F, Trautmann, S, Bertini, E, Mechi, C, Paganini, M, Piacentini, S, Romoli, M, Sorbi, S, Abbruzzese, Giovanni, Bandettini di Poggio, M, Ferrandes, G, Mandes, P, Marchese, R, Albanese, A, Di Donato, S, Mariotti, C, Soliveri, P, Carlo, R, Luigi, Dm, De michele, G, Rinaldi, C, Salvatore, E, Tucci, T, Ciarmiello, A, Martino, T, Simonelli, M, Squitieri, F, Fasano, A, Frontali, M, Guidubaldi, A, Lalongo, T, Jacopini, G, Loria, G, Piano, C, Romano, S, Soleti, F, Spadaro, M, Zinzi, P, van Walsem, Mr, Bjørgo, K, Fannemel, M, Gørvell, P, Retterstøl, L, Bjørnevoll, I, Sando, Sb, Sitek, Ej, Slawek, J, Soltan, W, Rudzinska, M, Szczudlik, A, Wójcik, M, Bryl, A, Ciesielska, A, Klimberg, A, Kozubski, W, Marcinkowski, J, Sempolowicz, Pj, Zielona, D, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Antczak, J, Rakowicz, M, Richter, P, Ryglewicz, D, Zdzienicka, E, Costa, C, Coelho, M, Ferreira, Jj, Rosa, Mm, Valadas, A, Gago, M, Garrett, C, Guerra, Mr, Bas, J, Calopa, M, Barberà, Ma, Badenes, D, Casas, L, Arroyo, Se, Vara, Jh, Krupinski, J, López, J, Obdulia, M, Ferrer, Pq, Sebastián, Ar, Contreras, Sr, Carruesco, Gt, Cubo, E, Mariscal, N, Sánchez, J, Barrero, Fj, Morales, B, Garcia Ramos Garcia, R, Pin Quiroga, P, Villanueva, C, Ruiz Espiga, Pj, Martinez, A, Saiz Artiga, Mj, Sánchez, V, Bascuñana, M, Fatas, M, Ribas, Gg, de Yébenes, Jg, López Moreno, Jl, Schwarz, C, Cubillo, Pt, Arques, Pn, Gorospe, A, Legarda, I, Rodriguez, Mj, Gaston, I, Ramos Arroyo, Ma, del Val, Jl, Martinez, L, Romero, I, Schüpbach, M, Zaugg, Sw, van Hout, Ms, van Vugt, Jp, de Weert, Am, Bolwijn, Jj, Dekker, M, Leenders, Kl, van Oostrom, Jc, Bos, R, Dumas, E, Witjes Ané, Mn, Matheson, K, Rae, D, Simpson, S, Summers, F, Ure, A, Curtis, A, Keylock, J, Rickards, H, Wright, J, Barker, Ra, Fisher, K, Goyder Goodman, Ao, Hill, S, Kershaw, A, Mason, S, Paterson, N, Raymond, L, Bisson, J, Busse, M, Ellison Rose, L, Handley, O, Price, K, Rosser, A, Edwards, M, De Sousa, Pa, Hughes, T, Mcgill, M, Pearson, P, Porteous, M, Zema, A, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Thomas, G, Burrows, L, Fletcher, A, Laver, F, Silva, M, Thomas, A, Chu, C, Hobson, E, Jamieson, S, Toscano, J, Wild, S, Yardumian, P, Bourne, C, Clayton, C, Dipple, H, Grant, J, Gross, D, Hallam, C, Middleton, J, Murch, A, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Bruno, S, Henley, S, O'Driscoll, C, Patel, A, Rosser, E, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Craufurd, D, Fullam, R, Howard, L, Huson, S, Partington Jones, L, Ritchie, N, Snowden, J, Solom, A, Stopford, C, Thompson, J, Westmoreland, L, Nemeth, Ah, Siuda, G, Bandmann, O, Bradbury, A, Fillingham, K, Foustanos, I, Quarrell, O, Reynders, H, Robertson, L, Tidswell, K., Mandich, Paola, Aziz, Na, Jurgens, Ck, Landwehrmeyer, Gb, EHDN Registry Study, Group, van Roon Mom, Wm, van Ommen, Gj, Stijnen, T, Bachoud Levi AC, Roos R. A., Bentivoglio, Ar, Biunno, I, Bonelli, R, Burgunder, Jm, Dunnett, Sb, Ferreira, J, Handley, Oj, Heiberg, A, Illmann, T, Levey, J, Nielsen, Je, Päivärinta, M, Roos, Ra, Rojo Sebastian, A, Tabrizi, Sj, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlstrom, J, Schwenke, C, Orth, M, Wallner, M, Barth, K, Bascunana Garde, M, Ros, R, Ecker, D, Heinonen, N, Held, C, Laura, M, Martinez Descals, A, Mestre, T, Monza, D, Naji, J, Padieu, H, Pro Koivisto, S, Rialland, A, Sasinkova, P, Trigo Cubillo, P, van Walsem, M, Witjes Ane, Mn, Zielonka, D, Bonelli, Rm, Herranhof, B, Hodl, A, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Flamez, A, Morez, V, de Raedt, S, Ribai, P, Van Reijen, D, Hasholt, L, Hjermind, Le, Jakobsen, O, Norremolle, A, Sorensen, Sa, Stokholm, J, Peippo, M, Sipponen, M, Hiivola, H, Martikainen, K, Tuuha, K, Kosinski, Cm, Probst, D, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Priller, J, Prüb, H, Andrich, J, Hoffmann, R, Kraus, P, Prehn, C, Saft, C, Salmen, S, Strabburger, K, Lange, H, Hunger, U, Löhle, M, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Lammbeck, J, Zucker, B, Hidding, U, Münchau, A, Stubbe, L, Heinicke, W, Longinus, B, Möller, Jc, Rissling, I, Peinemann, A, Städtler, M, Weindl, A, Bohlen, S, Reilmann, R, Beuster, A, Dose, M, Leythaeuser, G, Marquard, R, Schrenk, C, Schuierer, M, Wiedemann, A, Landwehrmeyer, B, Lezius, F, Trautmann, S, Bertini, E, Mechi, C, Paganini, M, Piacentini, S, Romoli, M, Sorbi, S, Abbruzzese, G, Bandettini di Poggio, M, Ferrandes, G, Mandes, P, Marchese, R, Albanese, A, Di Donato, S, Mariotti, C, Soliveri, P, Carlo, R, Luigi, Dm, DE MICHELE, Giuseppe, Rinaldi, Carlo, Salvatore, Elena, Tucci, Tecla, Ciarmielo, A, Martino, T, Simonelli, M, Squitieri, F, Fasano, A, Frontali, M, Guidubaldi, A, Lalongo, T, Jacopini, G, Loria, G, Piano, C, Romano, S, Soleti, F, Spadaro, M, Zinzi, P, van Walsem, Mr, Bjørgo, K, Fannemel, M, Gørvell, P, Retterstøl, L, Bjørnevoll, I, Sando, Sb, Sitek, Ej, Slawek, J, Soltan, W, Rudzinska, M, Szczudlik, A, Wójcik, M, Bryl, A, Ciesielska, A, Klimberg, A, Kozubski, W, Marcinkowski, J, Sempolowicz, Pj, Zielona, D, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Antczak, J, Rakowicz, M, Richter, P, Ryglewicz, D, Zdzienicka, E, Costa, C, Coelho, M, Ferreira, Jj, Rosa, Mm, Valadas, A, Gago, M, Garrett, C, Guerra, Mr, Bas, J, Calopa, M, Barberà, Ma, Badenes, D, Casas, L, Arroyo, Se, Vara, Jh, Krupinski, J, López, J, Obdulia, M, Ferrer, Pq, Sebastián, Ar, Contreras, Sr, Carruesco, Gt, Cubo, E, Mariscal, N, Sánchez, J, Barrero, Fj, Morales, B, Garcia Ramos Garcia, R, Pin Quiroga, P, Villanueva, C, Ruiz Espiga, Pj, Martinez, A, Saiz Artiga, Mj, Sánchez, V, Bascuñana, M, Fatas, M, Ribas, Gg, de Yébenes, Jg, López Moreno, Jl, Schwarz, C, Cubillo, Pt, Arques, Pn, Gorospe, A, Legarda, I, Rodriguez, Mj, Gaston, I, Ramos Arroyo, Ma, del Val, Jl, Martinez, L, Romero, I, Schüpbach, M, Zaugg, Sw, van Hout, M, van Vugt, Jp, de Weert, Am, Bolwijn, Jj, Dekker, M, Leenders, Kl, van Oostrom, Jc, Bos, R, Dumas, E, Witjes Ané, Mn, Matheson, K, Rae, D, Simpson, S, Summers, F, Ure, A, Curtis, A, Keylock, J, Rickards, H, Wright, J, Barker, Ra, Fisher, K, Goyder Goodman, Ao, Hill, S, Kershaw, A, Mason, S, Paterson, N, Raymond, L, Bisson, J, Busse, M, Ellison Rose, L, Handley, O, Price, K, Rosser, A, Edwards, M, De Sousa, Pa, Hughes, T, Mcgill, M, Pearson, P, Porteous, M, Zema, A, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Thomas, G, Burrows, L, Fletcher, A, Laver, F, Silva, M, Thomas, A, Chu, C, Hobson, E, Jamieson, S, Toscano, J, Wild, S, Yardumian, P, Bourne, C, Clayton, C, Dipple, H, Grant, J, Gross, D, Hallam, C, Middleton, J, Murch, A, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Bruno, S, Henley, S, O'Driscoll, C, Patel, A, Rosser, E, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Craufurd, D, Fullam, R, Howard, L, Huson, S, Partington Jones, L, Ritchie, N, Snowden, J, Solom, A, Stopford, C, Thompson, J, Westmoreland, L, Nemeth, Ah, Siuda, G, Bandmann, O, Bradbury, A, Fillingham, K, Foustanos, I, Quarrell, O, Reynders, H, Robertson, L, Tidswell, K., Neurology, Clinical sciences, and Neuroprotection & Neuromodulation
Subjects: Adult, Male, medicine.medical_specialty, Pathology, congenital, hereditary, and neonatal diseases and abnormalities, Huntingtin, Adolescent, Huntington Disease/epidemiology, Serotonin Plasma Membrane Transport Proteins/genetics, Severity of Illness Index, Basal Ganglia, Central nervous system disease, Young Adult, Degenerative disease, Internal medicine, Basal ganglia, Severity of illness, mental disorders, medicine, Humans, Prospective Studies, Allele, Age of Onset, Child, Basal Ganglia/pathology, Aged, Serotonin Plasma Membrane Transport Proteins, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Endocrinology, Huntington Disease, Mutation, Disease Progression, Female, Neurology (clinical), Age of onset, Trinucleotide repeat expansion, Psychology, Trinucleotide Repeat Expansion, Follow-Up Studies
Abstract: OBJECTIVE: Huntington disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG repeat expansion in the HD gene (HTT). We aimed to assess whether interaction between CAG repeat sizes in the mutant and normal allele could affect disease severity and progression. METHODS: Using linear regression and mixed-effects models, the influence of mutant and normal CAG repeat sizes interaction was assessed on 1) age at onset in 921 patients with HD, 2) clinical severity and progression in 512 of these patients with follow-up data available, and 3) basal ganglia volume on magnetic resonance images in 16 premanifest HD mutation carriers. RESULTS: Normal and mutant CAG repeat sizes interacted to influence 1) age at onset (p = 0.001), 2) severity or progression of motor, cognitive, and functional, but not behavioral, symptoms in patients with HD (all p < 0.05), and 3) in premanifest subjects, basal ganglia volumes (p < 0.05). In subjects with mutant CAG expansions in the low range, increasing size of the normal repeat correlated with more severe symptoms and pathology, whereas for those subjects with expansions in the high range, increasing size of the normal repeat correlated with less severe symptoms and pathology. CONCLUSIONS: Increasing CAG repeat size in normal HTT diminishes the association between mutant CAG repeat size and disease severity and progression in Huntington disease. The underlying mechanism may involve interaction of the polyglutamine domains of normal and mutant huntingtin (fragments) and needs further elucidation. These findings may have predictive value and are essential for the design and interpretation of future therapeutic trials.
Published: 2009

20. Immunological reactivity against neuronal and non-neuronal antigens in sporadic adult-onset cerebellar ataxia

Author: Fancellu R, Pareyson D, Corsini E, Salsano E, Laurà M, Bernardi G, Antozzi C, Andreetta F, Colecchia M, Di Donato S, Mariotti C., Fancellu, R, Pareyson, D, Corsini, E, Salsano, E, Laurà, M, Bernardi, G, Antozzi, C, Andreetta, F, Colecchia, M, Di Donato, S, and Mariotti, C.
Published: 2009

21. Sudden Death in a Professional Soccer Player Due to Left-Dominant Arrhythmogenic Cardiomyopathy

Author: Neri, Margherita, Riezzo, I., Fiore, C., Patete, F., D’Ovidio, C., and Di Donato, S.
Subjects: Socio-culturale
Published: 2014

22. Qualità e sicurezza nei sistemi agroalimentari: innovazioni tecnologiche ed economiche

Author: Covino D., Boccia F., Di Donato S., REGAZZI, DOMENICO, Covino D., Boccia F., Di Donato S., and Regazzi D.
Published: 2008

23. Qualità e sicurezza nei sistemi agroalimentari: innovazioni tecnologiche, implicazioni organizzative ed economiche

Author: Boccia F., Covino D., Di Donato S., REGAZZI, DOMENICO, Bocci F., Covino D., Di Donato S., Regazzi D., and Boccia F.
Subjects: INNOVAZIONE, QUALITÀ, SICUREZZA
Abstract: Il lavoro ha preso in considerazione il ruolo della qualità e delle certificazioni in ambito agroalimentare.
Published: 2006

24. The cave man in the 21st century: chronicle of announced tragedy. Preventive measures and repeating risk

Author: Pomata C, D'Errico S, Di Donato S, Di Padua M, Morreale FM, Riezzo I, Neri M, American Academy of Forensic Science, Pomata, C, D'Errico, S, Di Donato, S, Di Padua, M, Morreale, Fm, Riezzo, I, and Neri, M
Published: 2006

25. Characterization of optic neuropathy in Friedreich Ataxia

Author: Fortuna F., Amadori M., Barboni P., Valentino M. L., Gellera C., Mariotti C., Di Donato S., LIGUORI, ROCCO, MATTIAZZI, MARINA, BARUZZI, AGOSTINO, CARELLI, VALERIO, Fortuna F., Amadori M., Barboni P., Liguori R., Mattiazzi M., Valentino M.L., Gellera C., Mariotti C., Di Donato S., Baruzzi A., and Carelli V.
Published: 2005

26. Impact of IVS14+1G>A and 2846A>T DPYD polymorphisms on toxicity outcome of patients treated with fluoropyrimidine-containing regimens

Author: Marzia Del Re, Loupakis, F., Barbara, C., Latiano, T., Vasile, E., Zafarana, E., Cordio S, S., Toffolatti, L., Ricasoli, M., Prestifilippo, A., Venturini, F., Di Donato, S., Grifalchi, F., Rinaldi, A., Butera, A., Maiello, E., Siena, S., Alfredo Falcone, Cappuzzo, F., and Romano Danesi
Published: 2013

27. N-3 fatty acids in patients with multiple cardiovascular risk factors

Author: Roncaglioni, Maria Carla, Avanzini, Fausto, Barlera, Simona, Marzona, Irene, Milani, Valentina, Tombesi, Massimo, Caimi, Vittorio, Longoni, Paolo, Silletta, Maria Giuseppina, Tognoni, Gianni, Marchioli, Avanzini F, Roberto., Caimi, V, Longoni, P, Marchioli, R, Roncaglioni, Mc, Silletta, Mg, Tognoni, G, Tombesi, M, Barlera, S, Milani, V, Nicolis, Eb, Casola, C, Marzona, I, Massa, E, Marrocco, W, Micalella, M, Avanzini, F, Franzosi, Mg, Geraci, E, Giansiracusa, N, Rocchetti, L, Decarli, A, Satolli, R, Alli, C, Beghi, E, Bertele', V, Volpi, A, Baviera, M, Monesi, L, Pangrazzi, I, Nicolis, E, Clerici, F, Palumbo, A, Sgaroni, G, Pioggiarella, R, Scarano, M, Marfisi, Rm, Flamminio, A, Macino, L, Ferri, B, Pera, C, Polidoro, A, Abbatino, D, Acquati, M, Addorisio, G, Adinolfi, D, Adreani, L, Agistri, Mr, Agneta, A, Agnolio, Ml, Agostini, N, Agostino, G, Airò, A, Alaimo, N, Albano, M, Albano, N, Alecci, G, Alemanno, S, Alexanian, A, Alfarano, M, Alfè, L, Alonzo, N, Alvino, S, Ancora, A, Andiloro, S, Andreatta, E, Angeli, S, Angiari, F, Angilletti, V, Annicchiarico, C, Anzivino, M, Aprea, R, Aprile, A, Aprile, E, Aprile, I, Aprile, L, Armellani, V, Arnetoli, M, Aronica, A, Autiero, V, Bacca, G, Baccalaro, Am, Bacci, M, Baglio, G, Bagnani, M, Baiano, A, Baldari, A, Ballarini, L, Banchi, G, Bandera, R, Bandini, F, Baratella, M, Barbieri, A, Barbieri Vita, A, Bardi, M, Barlocchi, M, Baron, P, Bartoli, M, Basile, A, Basile, F, Basile, S, Battaggia, A, Battaglia, A, Baù, A, Beconcini, G, Beggio, R, Belfiore, Pa, Belicchi, M, Bellamoli, S, Bellini, C, Bellomo, M, Benetollo, C, Benetti, R, Beretta, E, Bertalero, P, Bertaso, Fg, Bertolani, U, Bettelli, G, Biagiotti, G, Bianchi, S, Bianco, G, Biccari, F, Bigioli, F, Bindi, M, Bisanti, G, Bitetti, Em, Blasetti, Mp, Blesi, F, Boato, V, Boga, S, Boidi, E, Boldrin, G, Bollati, A, Bolzan, L, Bolzonella, S, Bonardi, P, Bonato, Gb, Bonci, M, Bonfitto, G, Bonincontro, E, Boninsegna, F, Bonissone, D, Bono, L, Bonollo, E, Borghi, M, Borioli, N, Borsatto, M, Bosco, T, Bosisio Pioltelli, M, Botarelli, C, Botassis, S, Bottini, F, Bottos, C, Bova, G, Bova, V, Bozzani, A, Bozzetto, Rm, Braga, Vt, Braglia, M, Bramati, E, Brazzoli, C, Breglia, G, Brescia, A, Briganti, D, Brigato, G, Brocchi, A, Brosio, Fa, Bruni, E, Buscaglia, E, Bussini, Md, Bussotti, A, Buzzaccarini, F, Buzzatti, A, Caccamo, G, Cacciavillani, C, Caggiano, G, Calciano, Fp, Calderisi, M, Calienno, S, Caltagirone, P, Calzolari, I, Cammisa, M, Campanaro, M, Campanella, Gb, Campese, F, Canali, G, Candiani, De, Canepa, R, Canini, D, Canino, A, Cantoro, Ea, Capilupi, V, Capotosto, P, Cappelli, B, Capraro, G, Carafa, Fa, Carano, Q, Carcaterra, V, Carriero, D, Carrozzo, G, Cartanese, M, Casalena, M, Casarola, M, Caso, C, Casotto, M, Castaldi, F, Castegnaro, R, Castellani, G, Castri, S, Catalano, E, Catinello, N, Caturano, G, Cavallaro, R, Cavallo, Am, Cavallo, G, Cavion, Mt, Cavirani, G, Cazzaniga, F, Cazzetta, D, Cecconi, V, Cefalo, A, Celebrano, M, Celora, A, Centonze, P, Cerati, D, Cesaretti, D, Checchia, G, Checchin, A, Cherubini, M, Chianese, L, Chiappa, A, Chiappa, Mv, Chiariello, G, Chiavini, G, Chicco, M, Chiumeo, F, Ciacciarelli, A, Ciaci, D, Ciancaglini, R, Cicale, C, Cicale, S, Cipolla, A, Ciruolo, A, Citeri, Al, Citterio, G, Clerici, M, Coazzoli, E, Collecchia, G, Colletta, F, Colombo, I, Colorio, P, Coluccia, S, Comerio, M, Comoretto, P, Compagni, M, Conte, O, Contri, S, Contrisciani, A, Coppetti, T, Corasaniti, F, Corradi, Mt, Corsano, A, Corsini, A, Corti, N, Costantini, G, Costantino, A, Cotroneo, S, Cozzi, D, Cravello, Mg, Cristiano, E, Cucchi, R, Cusmai, L, D' Errico GB, D'Agostino, P, Dal Bianco, L, Dal Mutto, U, Dal Pozzo, G, Dallapiccola, P, Dallatorre, G, Dalle Molle, G, Dalloni, E, D'Aloiso, A, D'Amicis, G, Danese, R, Danieli, D, Danisi, G, D'Anna, Ma, Danti, G, D'Ascanio, S, Davidde, G, De Angeli, D, De Bastiani, R, De Battisti, A, De Bellis, A, De Berardinis, G, De Carlo, F, De Giorgi, D, De Gobbi, R, De Lorenzis, E, De Luca, P, De Martini, G, De Marzi, M, De Matteis, D, De Padova, S, De Polo, P, De Sabato, N, De Stefano, T, De Vita MT, De Vita, U, De Zolt, V, Debernardi, F, Del Carlo, A, Del Re, G, Del Zotti, F, D'Elia, R, Della Giovanna, P, Dell'Acqua, L, Dell'Orco, Rl, Demaria, G, Di Benedetto MG, Di Chiara, G, Di Corcia, V, Di Domizio, O, Di Donato, P, Di Donato, S, Di Fermo, G, Di Franco, M, Di Giovannantonio, G, Di Lascio, G, Di Lecce, G, Di Lorenzo, N, Di Maro, T, Di Mattia, Q, Di Michele, E, Di Modica RS, Di Murro, D, Di Noi MC, Di Paoli, V, Di Santi, M, Di Sanzo, A, Di Turi, C, Diazzi, A, Dileo, I, D'Ingianna, Ap, Dolci, A, Donà, G, Donato, C, Donato, P, Donini, A, Donna, Me, Donvito, Tv, Esposito, L, Esposito, N, Evangelista, M, Faita, G, Falco, M, Falcone, Da, Falorni, F, Fanciullacci, A, Fanton, L, Fasolo, L, Fassina, R, Fassone, A, Fatarella, P, Fedele, F, Fera, I, Fera, L, Ferioli, S, Ferlini, Mg, Ferlino, R, Ferrante, G, Ferrara, Fn, Ferrarese, Mf, Ferrari, G, Ferrari, O, Ferreri, A, Ferroni, M, Fezzi, G, Figaroli, C, Fina, Mg, Fioretta, A, Fiorucci, C, Firrincieli, R, Fischetti, M, Fischietti, G, Fiume, Dc, Flecchia, G, Forastiere, G, Fossati, B, Franceschi, Pl, Franchi, L, Franzoso, F, Frapporti, G, Frasca, G, Frisotti, A, Fumagalli, G, Fusco, D, Gabriele, P, Gabrieli, A, Gagliano, D, Galimberti, G, Galli, A, Gallicchio, N, Gallio, F, Gallipoli, T, Gallo, P, Galopin, T, Gambarelli, L, Garbin, A, Garozzo, Gm, Gasparri, R, Gastaldo, M, Gatti, E, Gazzaniga, P, Gennachi, N, Gentile, Rv, Germani, P, Gesualdi, F, Gherardi, E, Ghezzi, C, Ghidini, Mg, Ghionda, F, Giacci, L, Gialdini, D, Giampaolo, C, Giancane, R, Giannanti, A, Giannese, S, Giannini, L, Giaretta, M, Giaretta, R, Giavardi, L, Giordano, P, Giordano, E, Giordano, B, Gioria, Gm, Giugliano, R, Grassi, Ea, Greco, A, Greco, L, Grilletti, N, Grimaldi, N, Grisetti, G, Groppelli, G, Gualtieri, L, Guarducci, M, Guastella, G, Guerra, M, Guerrini, F, Guglielmini, A, Guido, A, Gulotta, P, Iacono, E, Iadarola, G, Ianiro, G, Iarussi, V, Ieluzzi, Ml, Ierardi, C, Ingaldi, F, Interlandi, S, Iocca, M, Iorno, A, Ioverno, E, Iurato, R, La Pace, L, La Piscopia, C, La Selva, R, Lafratta, M, Lamparelli, M, Lanaro, G, Lancerotto, R, Larcher, M, Lassandro, M, Lattuada, G, Laurino, P, Lefons, C, Legrottaglie, F, Lemma, A, Leone, D, Leone, F, Leso, A, Leuzzi, G, Levato, G, Libardi, L, Libralesso, N, Licini, Pi, Licursi, G, Lidonnici, F, Lillo, C, Liveri, L, Livio, A, Loiero, Ra, Loison, M, Lombardo, G, Lombardo, T, Lomunno, V, Lomuscio, S, Lonedo, A, Longo, E, Lora, L, Lotterio, A, Lucatello, L, Luongo, A, Lupoli, M, Macchia, C, Macri, G, Mafessanti, M, Maggialetti, V, Maggioni, A, Magnani, M, Maiellaro, G, Mancuso, A, Maniglio, Ar, Mannari, Gl, Manni, A, Manocchio, B, Mao, M, Maranò, A, Maraone, E, Marascio, D, Marcheselli, P, Marchetto, B, Marchetto, S, Marchi, A, Marchi, Gl, Mariano, C, Marinacci, S, Marinelli, S, Marini, G, Marra, Vc, Marrali, F, Marseglia, C, Martello, G, Martino, C, Martino, G, Martino, M, Marulli, Cf, Maruzzi, G, Marzotti, A, Mascheroni, G, Mascolo, P, Masoch, G, Masone, R, Massa, L, Massafra, M, Massi, M, Massignani, Dm, Matarese, Am, Matini, G, Mauro, R, Mazzi, M, Mazzillo, A, Mazzocato, E, Mazzoleni, Ns, Mazzone, A, Melacci, A, Mele, E, Meliota, P, Menaspà, S, Meneghello, F, Merola, G, Merone, L, Metrucci, A, Mezzina, V, Micchi, A, Michielon, A, Migliore, N, Minero, G, Minotta, F, Mirandola, C, Mistrorigo, S, Modafferi, L, Moitre, R, Mola, E, Monachese, C, Mongiardini, C, Montagna, F, Montani, M, Montemurno, I, Montolli, R, Montorsi, S, Montresor, M, Monzani, Mg, Morabito, F, Mori, G, Moro, A, Mosca, Mf, Motti, F, Muddolon, L, Mugnai, M, Muscas, F, Naimoli, F, Nanci, G, Nargi, E, Nasorri, R, Nastrini, G, Negossi, M, Negrini, A, Negroni, A, Neola, V, Niccolini, F, Niro, Cm, Nosengo, C, Novella, G, Nuti, C, Obici, F, Olita, C, Oliverio, Ss, Olivieri, I, Oriente, S, Orlando, G, Paci, C, Pagano, G, Pagliara, C, Paita, G, Paladini, G, Paladino, G, Palano, T, Palatella, A, Palermo, P, Palmisano, M, Pando, P, Panessa, P, Panigo, F, Panozzo, G, Panvini, F, Panzieri, F, Panzino, A, Panzitta, F, Paoli, N, Papagna, R, Papaleo, Mg, Papalia, G, Parisi, R, Parotti, N, Parravicini, D, Passarella, P, Pastore, Ga, Patafio, M, Pavone, P, Pedroli, W, Pedroni, M, Pelligra, G, Pellizzari, M, Penati, A, Perlot, M, Perrone, A, Perrone, G, Peruzzi, P, Peselli, C, Petracchini, L, Petrera, L, Petrone, S, Peverelli, C, Pianorsi, F, Piazza, Gp, Piazzolla, G, Picci, A, Pienabarca, G, Pietronigro, Tp, Pignocchino, P, Pilone, R, Pinto, D, Pirovano, E, Pirrotta, D, Pisante, V, Pitotto, P, Pittari, L, Piva, A, Pizzoglio, A, Plantera, Or, Plebani, W, Plessi, S, Podrecca, D, Poerio, V, Poggiani, F, Pogliani, W, Poli, L, Poloni, Fg, Porcelli, R, Porto, S, Pranzo, L, Prevedello, C, Profeta, C, Profico, D, Punzi, A, Quaglia, Gm, Racano, M, Raccone, A, Radice, F, Raho, Ca, Raimondi, R, Rainò, M, Ramponi, R, Ramunni, A, Ramunni, Al, Ravasio, F, Ravera, M, Re Sartò, G, Rebustello, G, Regazzoli, S, Restelli, C, Rezzonico, M, Ricchiuto, F, Rigo, S, Rigon, G, Rigon, R, Rinaldi, Ov, Rinaldi, M, Risplendente, Pg, Rispoli, M, Riundi, R, Riva, Mg, Rizzi, Al, Rizzi, D, Rizzo, Ld, Rocchi, L, Rondinone, B, Rosa, B, Rosati, F, Roselli, F, Rossetti, A, Rossetti, C, Rossi, R, Rossi, Pr, Rossi, A, Rossi, Cl, Rossitto, A, Ruffini, R, Ruffo, A, Ruggio, S, Ruo, M, Russo, B, Russo, L, Russo, R, Russo, S, Russo, U, Russo, V, Ruta, G, Sacchi, F, Sacco Botto, F, Saia, A, Salladini, G, Salmoiraghi, S, Saluzzo, F, Salvatore, C, Salvatori, E, Salvio, G, Sandri, P, Sandrini, T, Sangermano, V, Santoni, N, Saracino, Ad, Saracino, A, Sarasin, P, Sardo Infirri, C, Sarrì, B, Sartori, G, Sartori, N, Sauro, C, Scaglioni, M, Scalfi, C, Scamardella, Am, Scandale, G, Scandone, L, Scannavini, G, Scarati, R, Scardi, A, Scarpa, Fm, Scazzi, P, Schifone, A, Schirosa, G, Scigliano, G, Scilla, A, Sciortino, M, Scolaro, G, Scollo, E, Scorretti, G, Sellitti, R, Selmo, A, Selvaggio, G, Sempio, A, Seren, F, Serio, L, Serra, C, Serra, L, Siciliano, D, Sideri, A, Sighele, M, Signore, R, Siliberto, F, Silvestro, M, Simioni, G, Simmini, G, Simonato, L, Sinchetto, F, Sizzano, E, Smajato, G, Smaldone, M, Sola, G, Sordillo, L, Sovran, Cs, Spagnul, P, Spanò, F, Sproviero, S, Squintani, A, Stella, L, Stilo, V, Stocchiero, B, Stornello, Mc, Stracka, G, Strada, S, Stranieri, G, Stucci, N, Stufano, N, Suppa, A, Susca, Vg, Sutti, M, Taddei, M, Tagliabue, E, Tagliente, G, Talato, F, Talerico, P, Talia, R, Taranto, R, Tartaglia, M, Tauro, N, Tedesco, A, Tieri, P, Tirelli, M, Tocci, L, Todesco, P, Tognolo, M, Tomba, A, Tonello, P, Tonon, R, Toscano, L, Tosi, A, Tosi, G, Toso, S, Travaglio, P, Tremul, L, Tresso, C, Triacchini, P, Triggiano, L, Trigilio, A, Trimeloni, J, Tripicchio, G, Tritto, Gs, Trono, F, Trotta, E, Trotta, G, Tubertini, A, Turri, C, Turri, L, Tuttolani, Mp, Urago, M, Ursini, G, Valcanover, F, Valente, L, Valenti, M, Valentini, F, Vallone, G, Valz, P, Valzano, L, Vanin, V, Vatteroni, M, Vegetti, L, Vendrame, D, Veramonti, I, Veronelli, G, Vesco, A, Vicariotto, G, Vignale, G, Villa, Pl, Vinciguerra, R, Visco, A, Visentin, G, Visonà, E, Vitali, E, Vitali, S, Vitti, F, Volpone, Da, Zambon, N, Zammarrelli, A, Zanaboni, A, Zane, D, Zanetti, B, Zanibellato, R, Zappetti, M, Zappone, P, Zerilli, G, Zirino, V, Zoccali, R, Zuin, F, Altomonte, M, Anelli, N, Angiò, F, Annale, P, Antonacci, S, Anzilotta, R, Bano, F, Basadonna, O, Beduschi, L, Becagli, P, Bellotti, G, Blotta, C, Bruno, G, Cappuccini, A, Caramatti, S, Cariolato, Mp, Castellana, M, Castellani, L, Catania, R, Chielli, A, Chinellato, A, Ciaccia, A, Clerici, E, Cocci, A, Costanzo, G, D'Ercole, F, De Stefano, G, Decè, F, Di Cicco, N, Di Marco, A, Donati Sarti, C, Draghi, E, Dusi, G, Esposito, V, Ferraro, L, Ferretti, A, Ferri, E, Foggetti, L, Foglia, A, Fonzi, E, Frau, G, Fuoco, Mr, Furci, G, Gallo, L, Garra, V, Giannini, A, Gris, A, Iacovino, R, Interrigi, R, Joppi, R, Laner, B, La Fortezza, G, La Padula, A, Lista, Mr, Lupi, G, Maffei, D, Maggioni, G, Magnani, L, Marrazzo, E, Marcon, L, Marinò, V, Maroni, A, Martinelli, C, Mastandrea, E, Mastropierro, F, Meo, At, Mero, P, Minesso, E, Moschetta, V, Mosele, E, Nanni, C, Negretti, A, Nisticò, C, Orsini, A, Osti, M, Pacilli, Mc, Pennestre, C, Picerno, G, Piol, K, Pivano, L, Pizzuti, E, Poggi, L, Poidomani, I, Pozzetto, M, Presti, Ml, Ravani, R, Recalenda, V, Romagnuolo, F, Rossignoli, S, Rossin, E, Sabatella, C, Sacco, F, Sanità, F, Sansone, E, Servadei, F, Sisto, Mt, Sorio, A, Sorrentino, A, Spinelli, E, Spolaor, A, Squillacioti, A, Stella, P, Talerico, A, Todisco, C, Vadino, M, and Zuliani, C.
Subjects: Male, medicine.medical_specialty, General Practice, Kaplan-Meier Estimate, Placebo, Double-Blind Method, Risk Factors, Internal medicine, Fatty Acids, Omega-3, Clinical endpoint, medicine, Humans, Myocardial infarction, Treatment Failure, Aged, Proportional Hazards Models, chemistry.chemical_classification, Omega-3, business.industry, Proportional hazards model, Medicine (all), Hazard ratio, Fatty Acids, General Medicine, Middle Aged, medicine.disease, Hospitalization, Primary Prevention, chemistry, Cardiovascular Diseases, Heart failure, Cohort, Female, business, Polyunsaturated fatty acid
Abstract: Background Trials have shown a beneficial effect of n-3 polyunsaturated fatty acids in patients with a previous myocardial infarction or heart failure. We evaluated the potential benefit of such therapy in patients with multiple cardiovascular risk factors or atherosclerotic vascular disease who had not had a myocardial infarction. Methods In this double-blind, placebo-controlled clinical trial, we enrolled a cohort of patients who were followed by a network of 860 general practitioners in Italy. Eligible patients were men and women with multiple cardiovascular risk factors or atherosclerotic vascular disease but not myocardial infarction. Patients were randomly assigned to n-3 fatty acids (1 g daily) or placebo (olive oil). The initially specified primary end point was the cumulative rate of death, nonfatal myocardial infarction, and nonfatal stroke. At 1 year, after the event rate was found to be lower than anticipated, the primary end point was revised as time to death from cardiovascular causes or admission to the hospital for cardiovascular causes. Results Of the 12,513 patients enrolled, 6244 were randomly assigned to n-3 fatty acids and 6269 to placebo. With a median of 5 years of follow-up, the primary end point occurred in 1478 of 12,505 patients included in the analysis (11.8%), of whom 733 of 6239 (11.7%) had received n-3 fatty acids and 745 of 6266 (11.9%) had received placebo (adjusted hazard ratio with n-3 fatty acids, 0.97; 95% confidence interval, 0.88 to 1.08; P=0.58). The same null results were observed for all the secondary end points. Conclusions In a large general-practice cohort of patients with multiple cardiovascular risk factors, daily treatment with n-3 fatty acids did not reduce cardiovascular mortality and morbidity. (Funded by Societa Prodotti Antibiotici and others; ClinicalTrials.gov number, NCT00317707.).
Published: 2013

28. Evoluzione del gene Hdh nei primati

Author: Martínez-Labarga C., Zuccato C., Iennaco R., Gellera C., Truppa V., Dicerbo P., Friedrich K., Visalberghi E., Rickards O., Di Donato S., and Cattaneo E.
Published: 2013

29. β-Defensin Genomic Copy Number Does Not Influence the Age of Onset in Huntington's Disease

Author: Vittori, A, Orth, M, Roos, Ra, Outeiro, Tf, Giorgini, F, Hollox, Ej, Bachoud-Levi, Ac, Bentivoglio, Ar, Biunno, I, Bonelli, Rm, Burgunder, Jm, Dunnett, Sb, Ferreira, Jj, Handley, Oj, Heiberg, A, Illmann, T, Landwehrmeyer, Gb, Levey, J, Martinez-Jaurrieta, Md, Nielsen, Je, Pro Koivisto, S, Piiiviirinta, M, Sebastian, Ar, Tabrizi, Sj, Vandenberghe, W, Verellen-Dumoulin, C, Zaremba, J, Uhrova, T, Wahlstrom, J, Barth, K, Correia-Guedes, L, Finisterra, Am, Bascuiiana Garde, M, Betz, S, Bos, R, Ecker, D, Held, C, Koppers, K, Laura, M, Descals, Am, Mestre, T, Monza, D, Townhill, J, Padieu, H, Paterski, L, Peppa, N, Rialland, A, Røren, N, Sasinkova, P, Trigo Cubillo, P, van Walsem, M, Witjes-Ane, Mn, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Herranhof, B, Hod, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinge, K, Scheib, M, Hecht, K, Lilek, S, Muller, N, Schoggl, H, Ullah, J, Ribal, P, Klempff, J, Majerova, V, Roth, J, Hjermind, Le, Jakobsen, O, Vinthev-Jensen, T, Larsen, Iu, Stokholm, J, Hiivola, H, Martikainen, K, Tuuha, K, Santala, M, Milkereit, E, Kosinski, Cm, Probst, D, Reetz, K, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Andrich, J, Ellrichmann, G, Hoffmann, R, Kaminski, B, Saft, C, Stamm, C, Lange, H, Lohle, M, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Capetian, P, Lambeck, J, Zucker, B, Boelmans, K, Ganos, C, Hidding, U, Lewerenz, J, Miinchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Heinicke, W, Ribbat, M, Longinus, B, Miihlau, M, Peinemann, A, Stiidtler, M, Weindl, A, Winkelmann, J, Ziegler, C, Bechtel, N, Beckmann, H, Bohlen, S, Holzner, E, Reilmann, R, Rohm, S, Rumpf, S, Schepers, S, Dose, M, Leythaeuser, G, Marquard, R, Raab, T, Schrenk, C, Schuierer, M, Buck, A, Eschenbach, C, Landwehrmeyer, B, Lezius, F, Nepper, S, Niess, A, Schwenk, D, Siissmuth, S, Trautmann, S, Weydt, P, Cormio, C, de Tommaso, M, Sciruicchio, V, Serpino, C, Ghelli, E, Ginestroni, A, Bertini, E, Massaro, F, Mechi, C, Paganini, M, Piacentini, S, Pradella, S, Romoli, Am, Sorbi, S, Abbruzzese, G, Ferrandes, Mb, Di Maria, E, Ferrandes, G, Mandich, P, Marchese, R, Di Donato, S, Gellera, C, Genitrini, S, Mariotti, C, Nanetti, L, Soliveri, P, Tomasello, C, De Michele, G, Dimaio, L, Massarelli, M, Rinaldi, C, Roca, A, Rossi, F, Russo, Cv, Salvatore, E, Sorrentino, P, Tucci, T, De Nicola, A, Elifani, F, Petrollini, M, Martino, T, Lovo, F, Squitieri, F, Catalli, C, Di Giacopo, R, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Piano, C, Piccininni, C, Quaranta, D, Romano, S, Soleti, F, Spadaro, M, van Hout MS, van Vugt JP, de Weert, A, Bolwijn, Jj, Neurologie, P, Dekker, M, Leenders, Kl, van Oostrom JC, Dumas, Em, Jurgens, Ck, van den Bogaard SJ, 't Hart EP, Kremer, B, Verstappen, Cc, van Walsem MR, Frich, J, Aaserud, O, Wehus, R, Bjørgo, K, Fannemel, M, Gørvell, P, Lorentzen, E, Koivisto, Sp, Retterstøl, L, Stokke, B, Bjørnevoll, I, Sando, Sb, Dziadkiewicz, A, Nowak, M, Robowski, P, Sitek, E, Slawek, J, Soltan, W, Szinwelski, M, Blaszczyk, M, Boczarska-Jedynak, M, Ciach-Wysocka, E, Gorzkowska, A, Jasinska-Myga, B, Opala, G, Klodowska, G, Stompel, D, Banaszkiewicz, K, Boewiriska, D, Bojakowska-Jaremek, K, Neurologii, A, Dec, M, Krawczyk, M, Rudziriska, M, Szczudlik, A, Szczygiel, E, Wasielewska, A, Wojcik, M, Bryl, A, Ciesielska, A, Klimberg, A, Marcinkowski, J, Samara, H, Sempolowicz, J, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Antczak, J, Jachinska, K, Krysa, W, Rakowicz, M, Richter, P, Rola, R, Ryglewicz, D, Sienkiewicz-Jarosz, H, Sulek, A, Witkowski, G, Zdzienicka, E, Zieora-Jakutowicz, K, Coelho, M, Mendes, T, Valadas, A, Andrade, C, Joao, Ps, Gago, M, Garrett, C, Guerra, Mr, Solis, P, Herrera, Cd, Garcia, Pm, Cubo, E, Mariscal, N, Sanchez, J, Barrero, Fj, Alonso-Frech, F, Perez, Mr, Fenollar, M, Garda, R, Rivera, Sv, Villanueva, C, Alegre, J, Bascuiiana, M, Ventura, Mf, Ribas, Gg, Moreno, Jl, Cubillo, Pt, Rufz, Pj, Frech, Fa, Dfaz, J, Guerrero, R, Artiga, Mj, Sanchez, V, Alcaraz, Lf, de Ia Arrixaca, V, Manzanares, S, Perea, Mf, Reinante, G, Arrixaca, Ia, Torres, Mm, Moreau, Lv, Barbera, Ma, Guia, Db, Hernanz, Lc, Catena, Jl, Sebastian, R, Ferrer, Pq, Carruesco, Gt, Bas, J, Busquets, N, Calopa, M, Buongiorno, Mt, Munoz, E, Elorza, Md, Lopez, Cd, Terol, Ds, Robert, Mf, Rufz, Bg, Casado, Ag, Martinez, Ih, Viladrich, Cm, Pons, R, Roca, E, Llesoy, Jr, Idiago, Jm, Vergara, Mr, Garcia, Ss, Riballo, Av, Hoglund, A, Palhagen, Se, Paucar, M, Sandstrom, B, Svenningsson, P, Reza-Soltani, Tw, Kaelin, A, Romero, I, Schupbach, M, Stebler, Y, Zaugg, Sw, Akhtar, S, Crooks, J, Curtis, A, de Souza, J, Rickards, H, Wright, J, Barker, Ra, Di Pietro, A, Fisher, K, Goodman, Ao, Hill, S, Kershaw, A, Mason, S, O'Keefe, D, Swain, R, Guzman, Nv, Busse, M, Butcher, C, Clenaghan, C, Dunnett, S, Fullam, R, Jones, L, Jones, U, Khalil, H, Minster, S, Owen, M, Hunt, S, Price, K, Rosser, A, Edwards, M, Ho, C, Mcgill, M, Pearson, P, Porteous, M, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Rothery, J, Thomas, G, Yates, S, Burrows, L, Chu, C, Fletcher, A, Gallantrae, D, Harding, A, Hamer, S, Kraus, A, Laver, F, Longthorpe, M, Markova, I, Raman, A, Silva, M, Thomson, A, Wild, S, Yardumian, P, Hobson, E, Jamieson, S, Musgrave, H, Rowett, L, Toscano, J, Clayton, C, Dipple, H, Middleton, J, Patino, D, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Laing, H, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Santhouse, A, Bruno, S, Doherty, K, Lahiri, N, Novak, M, Patel, A, Rosser, E, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Bek, J, Callaghan, J, Craufurd, D, Howard, L, Hare, M, Huson, S, Johnson, L, Jones, M, Murphy, H, Oughton, E, Partington-Janes, L, Rogers, D, Snowden, J, Sollom, A, Stopford, C, Thompson, J, Trender-Gerhard, I., Vittori, Angelica, Orth, Michael, Roos, Raymund A C, Outeiro, Tiago F, Giorgini, F, Russo, Cinzia Valeria, Flaviano, and Hollox, Edward J
Subjects: Adult, Male, Age of Onset, DNA Copy Number Variations, Female, Genotype, Humans, Huntington Disease, Middle Aged, beta-Defensins, Disease, Biology, Genetic modifier, Article, Pathogenesis, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Huntington's disease, medicine, Copy-number variation, Defensin, 030304 developmental biology, Genetics, 0303 health sciences, copy number variation, inflammation, Acquired immune system, medicine.disease, 3. Good health, Beta defensin, Neurology (clinical), Age of onset, 030217 neurology & neurosurgery
Abstract: Background: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the abnormal expansion of a CAG triplet repeat tract in the huntingtin gene. While the length of this CAG expansion is the major determinant of the age of onset (AO), other genetic factors have also been shown to play a modulatory role. Recent evidence suggests that neuroinflammations is a pivotal factor in the pathogenesis of HD, and that targeting this process may have important therapeutic ramifications. The human β-defensin 2 (hBD2)- encoded by DEFB4- is an antimicrobial peptide that exhibits inducible expression in astrocytes during inflammation and is an important regulator of innate and adaptive immune response. Therefore, DEFB4 may contribute to the neuroinflammatory processes observed in HD. Objective: In this study we tested the hypothesis that copy number variation (CNV) of the β-defensin region, including DEFB4, modifies the AO in HD. Methods and results: We genotyped β-defensin CNV in 490 HD individuals using the paralogue ratio test and found no association between β-defensin CNV and onset of HD. Conclusions: We conclude that it is unlikely that DEFB4 plays a role in HD pathogenesis.
Published: 2013

30. COHORT study of the HSG. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

Author: Lee JM, Ramos EM, Lee JH, Gillis T, Mysore JS, Hayden MR, Warby SC, Morrison P, Nance M, Ross CA, Margolis RL, Squitieri F, Orobello S, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Paulsen JS, PREDICT-HD study of the Huntington Study Group (HSG), Landwehrmeyer GB, REGISTRY study of the European Huntington's Disease Network, Myers RH, and HD-MAPS Study Group, MacDonald ME, Gusella JF
Published: 2012

31. Population stratification may bias analysis of PGC-1alpha as amodifiewr of age at Huntington disease motor onset

Author: Ramos EM, Latourelle JC, Lee JH, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Marder K, Gusella JF, Lee JM, Alonso I, Sequeiros J, Myers RH, and Macdonald ME.
Published: 2012
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32. Population stratification may bias analysis of PGC-1? as a modifier of age at Huntington disease motor onset

Author: Ramos EM, Latourelle JC, Lee JH, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Marder K, Gusella JF, Lee JM, Alonso I, Sequeiros J, Myers RH, and Macdonald ME
Published: 2012

33. Discrepancies in reporting the CAG repeat lengths for Huntington's disease

Author: Quarrell, Ow, Handley, O, O'Donovan, K, Dumoulin, C, Ramos Arroyo, M, Biunno, I, Bauer, P, Kline, M, Landwehrmeyer, Gb, Barth, K, Correia Guedes, L, Maria Finisterra, A, Bascuñana Garde, M, Bos, R, Ecker, D, Held, C, Koppers, K, Laurà, M, Martínez Descals, A, Mclean, T, Mestre, T, Minster, S, Monza, D, Townhill, J, Orth, M, Padieu, H, Paterski, L, Peppa, N, Koivisto, Sp, Rialland, A, Røren, N, Šašinková, P, Cubillo, Pt, van Walsem MR, Witjes Ané MN, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Bachoud Lévi AC, Bentivoglio, Ar, Bonelli, R, Burgunder, Jm, Dunnett, Sb, Ferreira, Jj, Handley, Oj, Heiberg, A, Illmann, T, Levey, J, Nielsen, Je, Päivärinta, M, Roos, Ra, Rojo Sebastián, A, Tabrizi, Sj, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlström, J, Bonelli, Rm, Herranhof, B, Holl, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Scheibl, M, Hecht, K, Lilek, S, Müller, N, Schöggl, H, Ullah, J, Brugger, F, Hepperger, C, Hotter, A, Mahlknecht, P, Nocker, M, Seppi, K, Wenning, G, Buratti, L, Hametner, Em, Holas, C, Hussl, A, Mair, K, Poewe, W, Wolf, E, Zangerl, A, Braunwarth, Em, Ribaï, P, Flamez, A, Morez, V, de Raedt, S, Boogaerts, A, van Reijen, D, Klempíř, J, Kucharík, M, Roth, J, Hjermind, Le, Jakobsen, O, Stokholm, J, Hasholt, L, Nørremølle, A, Sørensen, Sa, Hiivola, H, Martikainen, K, Tuuha, K, Peippo, M, Sipponen, M, Kosinski, Cm, Milkereit, E, Probst, D, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Gelderblom, H, Priller, J, Prüss, H, Spruth, Ej, Andrich, J, Hoffmann, R, Kraus, Ph, Muth, S, Prehn, C, Saft, C, Salmen, S, Stamm, C, Steiner, T, Strassburger, K, Lange, H, Friedrich, A, Hunger, U, Löhle, M, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Lambeck, J, Zucker, B, Boelmans, K, Ganos, C, Hidding, U, Lewerenz, J, Münchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Heinicke, W, Longinus, B, Uni, M, Bürk, K, Möller, Jc, Rissling, I, Peinemann, A, Städtler, M, Weindl, A, Bechtel, N, Beckmann, H, Bohlen, S, Hölzner, E, Reilmann, R, Rohm, S, Rumpf, S, Schepers, S, Beister, A, Dose, M, Hammer, K, Kieni, J, Leythaeuser, G, Marquard, R, Raab, T, Richter, S, Selimbegovic Turkovic, A, Schrenk, C, Schuierer, M, Wiedemann, A, Buck, A, Connemann, J, Eschenbach, C, Landwehrmeyer, B, Lezius, F, Nepper, S, Niess, A, Süssmuth, S, Trautmann, S, Weydt, P, Cormio, C, Difruscolo, O, Sciruicchio, V, Serpino, C, de Tommaso, M, Capellari, S, Cortelli, P, Gallassi, R, Poda, R, Rizzo, G, Scaglione, C, Bertini, E, Ghelli, E, Ginestroni, A, Massaro, F, Mechi, C, Paganini, M, Piacentini, S, Pradella, S, Romoli, Am, Sorbi, S, Abbruzzese, G, Bandettini di Poggio, M, Di Maria, E, Ferrandes, G, Mandich, P, Marchese, R, Albanese, A, Di Bella, D, Di Donato, S, Gellera, C, Genitrini, S, Mariotti, C, Nanetti, L, Paridi, D, Soliveri, P, Tomasello, C, De Michele, G, Di Maio, L, Rinaldi, C, Valeria Russo, C, Salvatore, E, Tucci, T, Cannella, M, Codella, V, De Gregorio, F, De Nicola, N, Martino, T, Simonelli, M, Squitieri, F, Catalli, C, Di Giacopo, R, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Modoni, A, Piano, C, Piccininni, C, Quaranta, D, Romano, Silvia, Soleti, F, Spadaro, M, van Hout MS, van Vugt JP, Marit de Weert, A, Bolwijn, Jj, Dekker, M, Leenders, Kl, van Oostrom JC, Dumas, Em, Jurgens, Ck, van den Bogaard SJ, 't Hart EP, Kremer, B, Verstappen, Cc, Aaserud, O, Wehus, R, Bjørgo, K, Fannemel, M, Gørvell, P, Retterstøl, L, Overland, T, Stokke, B, Bjørnevoll, I, Sando, Sb, Sitek, E, Slawek, J, Soltan, W, Boczarska Jedynak, M, Jasinska Myga, B, Opala, G, Kodowska Duda, G, Banaszkiewicz, K, Szczudlik, A, Rudziñska, M, Wójcik, M, Dec, M, Krawczyk, M, Bryl, A, Ciesielska, A, Klimberg, A, Marcinkowski, J, Sempoowicz, J, Samara, H, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Antczak, J, Jachinska, K, Rakowicz, M, Richter, P, Ryglewicz, D, Witkowski, G, Zdzienicka, E, Suek, A, Krysa, W, Guedes, L, Coelho, M, Mendes, T, Valadas, A, Cavaco, S, Damásio, J, Magalhães, M, Gago, M, Garrett, C, Guerra, Mr, Barrero, F, Morales, B, Cubo, E, Mariscal, N, Sánchez, J, Alonso Frech, F, Rabasa Perez, M, Fenollar, M, García, R, Quiroga, Pp, Vázquez Rivera, S, Villanueva, C, Bascuñana, M, Fatás Ventura, M, García Ribas, G, García de Yébenes, J, López Sendón Moreno JL, García Ruíz PJ, José Saiz Artiga, M, Sánchez, V, Noguera Perea, F, Lorenza, F, Torres, Mm, Reinante, G, Vivancos Moreau, L, Barbera, Ma, Badenes Guia, D, Hernanz, Lc, Catena, Jl, Ferrer, Pq, Tome Carruesco, G, Bas, J, Busquets, N, Calopa, M, Dalmau Elorza, M, Díez, C, López, A, Durán, S, Terol, S, Floriach Robert, M, Garzón Ruíz, B, González Casado, A, Haro Martínez, I, Viladrich, Cm, Càrdenas R, Pons i., Roca, E, Llesoy, Jr, Ruiz Idiago JM, Ruíz Vergara, M, Soriano García, S, Villa Riballo, A, Gorospe, A, Legarda, I, Arques, Pn, Torres Rodríguez MJ, Vives, B, Gaston, I, Bosca, M, Burguera, Ja, Garcia, Ac, Pålhagen, Se, Paucar, M, Svenningsson, P, Walldén Reza Soltani, T, Höglund, A, Sandström, B, Høsterey Ugander, U, Fredlund, G, Constantinescu, R, Neleborn Lingefjärd, L, Tedroff, J, Esmaeilzadeh, M, Winnberg, E, Burgunder, Y, Stebler, Y, Kaelin, A, Romero, I, Schüpbach, M, Zaugg, Sw, Jack, R, Matheson, K, Miedzybrodzka, Z, Rae, D, Simpson, S, Summers, F, Ure, A, Crooks, J, Curtis, A, de Souza, J, Rickards, H, Wright, J, Barker, Ra, Di Pietro, A, Fisher, K, Goodman, A, Hill, S, Kershaw, A, Mason, S, Paterson, N, Raymond, L, Bisson, J, Busse, M, Clenaghan, C, Ellison Rose, L, Hunt, S, Price, K, Rosser, A, Edwards, M, Hughes, T, Mcgill, M, Pearson, P, Porteous, M, Smith, P, Zeman, A, Causley, A, Harrower, T, Howcroft, D, Lambord, N, Rankin, J, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Rothery, J, Thomas, G, Yates, S, Miller, J, Ritchie, S, Burrows, L, Fletcher, A, Harding, A, Laver, F, Silva, M, Thomson, A, Barnes, K, Chu, C, Hobson, E, Jamieson, S, Markova, I, Thomson, J, Toscano, J, Wild, S, Yardumian, P, Bourne, C, Clayton, C, Dipple, H, Clapton, J, Grant, J, Gross, D, Hallam, C, Middleton, J, Murch, A, Patino, D, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Patton, M, Peterson, M, Rose, S, Bruno, S, Chu, E, Doherty, K, Henley, S, Lahiri, N, Novak, M, Patel, A, Read, J, Rosser, E, Say, M, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Callaghan, J, Craufurd, D, Fullam, R, Howard, L, Huson, S, Oughton, E, Partington Jones, L, Snowden, J, Sollom, A, Stopford, C, Thompson, J, Trender Gerhad, I, Verstraelen, N, Westmoreland, L, Nemeth, Ah, Suida, G, Harrison, D, Hughes, M, Parkinson, A, Soltysiak, B, Bandmann, O, Bradbury, A, Gill, P, Fairtlough, H, Fillingham, K, Foustanos, I, Tidswell, K., Kaelin, André, Quarrel O.W., Handley O., O'Donovan K., Dumoulin C., Ramos-Arroyo M., Biunno I., Bauer P., Kline M., Capellari S., Cortelli P., Gallassi R., Landwehrmeyer G.B., European Huntington's Disease Network., Neurology, Clinical sciences, Neuroprotection & Neuromodulation, Quarrell, Ow, Handley, O, O'Donovan, K, Dumoulin, C, Ramos Arroyo, M, Biunno, I, Bauer, P, Kline, M, Landwehrmeyer, Gb, European Huntington's Disease, Network, European Huntington's Disease, N. e. t. w. o. r. k., Rinaldi, Carlo, Salvatore, Elena, and DE MICHELE, Giuseppe
Subjects: medicine.medical_specialty, Concordance, International Cooperation, Diagnostic Errors/statistics & numerical data, Nerve Tissue Proteins, Guidelines as Topic, Bioinformatics, Sensitivity and Specificity, Article, Huntingtin Gene, Huntington's disease, Trinucleotide Repeats, Internal medicine, External quality assessment, Genetics, medicine, Humans, Nerve Tissue Proteins/genetics, Diagnostic laboratory, Genetic Testing, Genetic Testing/methods/standards, Allele, Diagnostic Errors, standard reference material, Genetics (clinical), Alleles, Huntingtin Protein, ddc:618, business.industry, international cooperation, Nuclear Proteins, Reproducibility of Results, Reference Standards, medicine.disease, CAG repeat length, Nuclear Proteins/genetics, Huntington Disease, Huntington Disease/diagnosis, Mutation, Medical genetics, reproducibility of results, mutation, business, Trinucleotide repeat expansion, Huntington Disease/diagnosis/genetics, Genetic Testing/methods
Abstract: Huntington's disease results from a CAG repeat expansion within the Huntingtin gene; this is measured routinely in diagnostic laboratories. The European Huntington's Disease Network REGISTRY project centrally measures CAG repeat lengths on fresh samples; these were compared with the original results from 121 laboratories across 15 countries. We report on 1326 duplicate results; a discrepancy in reporting the upper allele occurred in 51% of cases, this reduced to 13.3% and 9.7% when we applied acceptable measurement errors proposed by the American College of Medical Genetics and the Draft European Best Practice Guidelines, respectively. Duplicate results were available for 1250 lower alleles; discrepancies occurred in 40% of cases. Clinically significant discrepancies occurred in 4.0% of cases with a potential unexplained misdiagnosis rate of 0.3%. There was considerable variation in the discrepancy rate among 10 of the countries participating in this study. Out of 1326 samples, 348 were re-analysed by an accredited diagnostic laboratory, based in Germany, with concordance rates of 93% and 94% for the upper and lower alleles, respectively. This became 100% if the acceptable measurement errors were applied. The central laboratory correctly reported allele sizes for six standard reference samples, blind to the known result. Our study differs from external quality assessment (EQA) schemes in that these are duplicate results obtained from a large sample of patients across the whole diagnostic range. We strongly recommend that laboratories state an error rate for their measurement on the report, participate in EQA schemes and use reference materials regularly to adjust their own internal standards.
Published: 2012

34. Homicide by Strangulation With Postmortem Dismemberment of the Victim: Looking for Injuring Tool

Author: Di Donato, S., Riezzo, I., Guglielmi, Giuseppe, Monaci, F., Cruciato, F., Di Stefano, M., and Neri, Margherita
Subjects: Socio-culturale
Published: 2012

35. NMDA receptor gene variations as modifiers in Huntington disease

Author: Saft, C, Epplen, Jt, Wieczorek, S, Landwehrmeyer, Gb, Roos, Ra, de Yebenes JG, Dose, M, Tabrizi, Sj, Craufurd, D, Arning, L, Barth, K, Bascuñana Garde, M, Bos, R, Ecker, D, Handley, O, Heinonen, N, Held, C, Laurà, M, Martínez Descals, A, Mestre, T, Monza, D, Naji, J, Orth, M, Padieu, H, Pro Koivisto, S, Rialland, A, Sasinková, P, Trigo Cubillo, P, van Walsem, M, Witjes Ané MN, Zielonka, D, Bonelli, R, Herranhof, B, Hödl, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinge, K, Brugger, F, Hepperger, C, Hotter, A, Mahlknecht, P, Nocker, M, Seppi, K, Wenning, G, Ribaï, P, Verellen Dumoulin, C, Klempíř, J, Kucharik, M, Roth, J, Hasholt, L, Hjermind, L, Jakobsen, O, Nielsen, J, Nørremølle, A, Sørensen, S, Stokholm, J, Hiivola, H, Martikainen, K, Tuuha, K, Kosinski, C, Probst, D, Sass, C, Schiefer, J, Schlangen, C, Werner, C, Lange, H, Löhle, M, Storch, A, Wolz, A, Wolz, M, Lambeck, J, Zucker, B, Münchau, A, Stubbe, L, Zittel, S, Heinicke, W, Longinus, B, Peinemann, A, Städtler, M, Weindl, A, Bohlen, S, Reilmann, R, Beister, A, Hammer, K, Leythaeuser, G, Marquard, R, Raab, T, Schrenk, C, Schuierer, M, Wiedemann, A, Eschenbach, C, Landwehrmeyer, B, Lezius, F, Trautmann, S, Cormio, C, Difruscolo, O, de Tommaso, M, Sciruicchio, V, Serpino, C, Bertini, E, Mechi, C, Paganini, M, Piacentini, S, Romoli, M, Sorbi, S, Abbruzzese, G, Di Maria, E, Bandettini di Poggio Giovanna Ferrandes, M, Mandich, P, Marchese, R, Albanese, A, Di Donato, S, Mariotti, C, Soliveri, P, Gellera, C, Tomasello, C, Nanetti, L, Luigi, D, De Michele, G, Rinaldi, C, Russo, C, Salvatore, E, Tucci, T, Squitieri, F, Martino, T, Orobello, S, Alberti, S, De Gregorio, F, Codella, V, De Nicola, N, Maglione, V, Bentivoglio, A, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Piano, C, Romano, Silvia, Soleti, F, Spadaro, M, Zinzi, P, Heiberg, A, Bjørgo, K, Fannemel, M, Gørvell, P, Retterstøl, L, Bjørnevoll, I, Botne Sando, S, Slawek, J, Soltan, W, Sitek, E, Boczarska Jedynak, M, Jasinska Myga, B, Opala, G, Szczudlik, A, Rudzińska, M, Wójcik, M, Banaszkiewicz, K, Krawczyk, M, Marcinkowski, J, Ciesielska, A, Sempołowicz, J, Bryl, A, Klimberg, A, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Witkowski, G, Ryglewicz, D, Antczak, J, Rakowicz, M, Jachinska, K, Zdzienicka, E, Richter, P, Zaremba, J, Coelho, M, Ferreira, J, Rosa, M, Valadas, A, Gago, M, Garrett, C, Guerra, M, Barrero, F, Morales, B, López Sendón Moreno, J, Cubo, E, Mariscal, N, Sánchez, J, García, R, Villanueva, C, Pin Quiroga, P, Bascuñana, M, Fatàas, M, Luis López Moreno, J, García Ribas, G, Schwarz, C, de Yébenes JG, José Saiz Artiga, M, García Ruíz, P, Sánchez, V, Fortuna Alcaraz, L, Fuensanta Noguera Perea, M, Martirio Antequera Torres, M, Vivancos Moreau, L, Rojo Sebastian, A, Aguilar Barbera, M, Badenes Guia, D, Casas Hernanz, L, Tome Carruesco, G, Suarez San Martin, E, López Catena, J, Bas, J, Calopa, M, Busquets, N, Navas Arques, P, Gorospe, A, Legarda, I, José Torres Rodríguez, M, Vives, B, Carrillo, F, Mir, P, José Lama Suarez, M, Loutfi, G, Stattin, El, Westman, L, Wikström, B, Pålhagen, S, Björnsson, E, Burgunder, Jm, Romero, I, Schüpbach, M, Weber Zaugg, S, van Hout, M, van Vugt, J, Marit de Weert, A, Bolwijn, Jj, Dekker, M, Leenders, Kl, van Oostrom JC, Dumas, E, Jurgens, C, van den Bogaard SA, Roos, R, Kremer, B, Verstappen, Cc, de Souza, J, Rickards, H, Wright, J, Barker, R, Fisher, K, Goyder Goodman, A, Hill, S, Kershaw, A, Mason, S, Paterson, N, Raymond, L, Bisson, J, Busse, M, Ellison Rose, L, Hunt, S, Price, K, Rosser, A, Dunnett, S, Edwards, M, De Sousa, P, Hughes, T, Mcgill, M, Pearson, P, Porteous, M, Smith, P, Zeman, A, Lambord, N, Rankin, J, Burrows, L, Fletcher, A, Laver, F, Silva, M, Thomson, A, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Patton, M, Patterson, M, Bourne, C, Clayton, C, Dipple, H, Clapton, J, Grant, J, Gross, D, Hallam, C, Middleton, J, Murch, A, Patino, D, Bruno, S, Chu, E, Doherty, K, Lahiri, N, Novak, M, Patel, A, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Fullam, R, Howard, L, Huson, S, Partington Jones, L, Verstraelen, N, Snowden, J, Sollom, A, Stopford, C, Thompson, J, Westmoreland, L, Nemeth, A, Siuda, G, Bandmann, O, Bradbury, A, Fillingham, K, Foustanos, I, Tidswell, K, and Quarrell, O.
Subjects: Genetics, biology, business.industry, Medicine (miscellaneous), Disease, Bioinformatics, Huntington Disease, Cohort, biology.protein, Medicine, GRIN2A, NMDA receptor, GRIN2B, business, Trinucleotide repeat expansion, Gene, Modifier Genes
Abstract: Several candidate modifier genes which, in addition to the pathogenic CAG repeat expansion, influence the age at onset (AO) in Huntington disease (HD) have already been described. The aim of this study was to replicate association of variations in the N-methyl D-aspartate receptor subtype genes GRIN2A and GRIN2B in the "REGISTRY" cohort from the European Huntington Disease Network (EHDN). The analyses did replicate the association reported between the GRIN2A rs2650427 variation and AO in the entire cohort. Yet, when subjects were stratified by AO subtypes, we found nominally significant evidence for an association of the GRIN2A rs1969060 variation and the GRIN2B rs1806201 variation. These findings further implicate the N-methyl D-aspartate receptor subtype genes as loci containing variation associated with AO in HD.
Published: 2011

36. Molecular diagnosis of ataxias and spastic paraplegiashoven, CS

Author: Gasser, Thomas, Finsterer, J, Schöls, Ludger, Spinazzola, A, Baets, J, Van Broeckhoven, C, Di Donato, S, Fontaine, B, De Jonghe, P, Lossos, A, Lynch, T, and Mariotti, C
Published: 2011

37. Sudden death from atypical Pneumonia in an adolescent

Author: Di Donato, S, Neri, Margherita, and Maglietta, R.
Subjects: Sudden Death, Atypical Pneumonia, Socio-culturale, Meningitis, Sudden Death, Atypical Pneumonia, Meningitis
Published: 2010

38. EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias

Author: Gasser, T., Finsterer, J., Baets, Jonathan, Van Broeckhoven, Christine, di Donato, S., Fontaine, B., and De Jonghe, Peter
Subjects: Human medicine
Abstract: Background and purpose: These EFNS guidelines on the molecular diagnosis of neurogenetic disorders are designed to provide practical help for the general neurologist to make appropriate use of molecular genetics in diagnosing neurogenetic disorders. Methods: Literature searches were performed before expert members of the task force wrote proposals, which were discussed in detail until final consensus had been reached among all task force members. Results and conclusion: This paper provides updated guidelines for molecular diagnosis of two particularly complex groups of disorders, the ataxias and spastic paraplegias. Possibilities and limitations of molecular genetic diagnosis of these disorders are evaluated and recommendations are provided.
Published: 2010

39. EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias

Author: Burgunder, J-M, Finsterer, J., Schöls, L., Spinazzola, A., Tabrizi, S. J., Tallaksen, C., Zeviani, M., Harbo, H. F., Gasser, T., EFNS, Szolnoki, Z., Fontaine, B., Baets, J., Van Broeckhoven, C., Di Donato, S., De Jonghe, P., Lynch, T., and Mariotti, C.
Subjects: Migraine Disorders, genetics [Epilepsy], epidemiology [Channelopathies], epidemiology [Dementia], standards [Molecular Biology], genetics [Dementia], standards [Societies, Medical], trends [Molecular Diagnostic Techniques], Humans, ddc:610, diagnosis [Channelopathies], Molecular Biology, trends [Societies, Medical], Societies, Medical, diagnosis [Migraine Disorders], Epilepsy, Evidence-Based Medicine, Infant, Newborn, epidemiology [Europe], methods [Molecular Biology], diagnosis [Epilepsy], epidemiology [Epilepsy], diagnosis [Stroke], diagnosis [Dementia], Europe, Stroke, Molecular Diagnostic Techniques, methods [Molecular Diagnostic Techniques], standards [Molecular Diagnostic Techniques], trends [Molecular Biology], genetics [Stroke], Channelopathies, Dementia, genetics [Channelopathies], epidemiology [Migraine Disorders], genetics [Migraine Disorders], epidemiology [Stroke]
Abstract: These EFNS guidelines on the molecular diagnosis of channelopathies, including epilepsy and migraine, as well as stroke, and dementia are designed to summarize the possibilities and limitations of molecular genetic techniques and to provide diagnostic criteria for deciding when a molecular diagnostic work-up is indicated.To collect data about planning, conditions, and performance of molecular diagnosis of these disorders, a literature search in various electronic databases was carried out and original papers, meta-analyses, review papers, and guideline recommendations were reviewed.The best level of evidence for genetic testing recommendation (B) can be found for a small number of syndromes, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, severe myoclonic epilepsy of infancy, familial recurrent hemorrhages, familial Alzheimer's disease, and frontotemporal lobar degeneration. Good practice points can be formulated for a number of other disorders.These guidelines are provisional, and the future availability of molecular genetic epidemiological data about the neurogenetic disorders under discussion in our article will allow improved recommendation with an increased level of evidence.
Published: 2010

40. EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias: EFNS GUIDELINES/CME ARTICLE

Author: Burgunder, J. -M., Finsterer, J., Szolnoki, Z., Fontaine, B., Baets, J., Van Broeckhoven, C., Di Donato, S., De Jonghe, P., Lynch, T., Mariotti, C., Schols, L., Spinazzola, A., Tabrizi, S. J., Tallaksen, C., Zeviani, M., Harbo, H. F., and Gasser, T.
Subjects: Epilepsy, Evidence-Based Medicine, Migraine Disorders, Infant, Newborn, Channelopathies, EFNS task force, Migraine, Molecular diagnosis, Neurogenetic, Stroke, Dementia, Europe, Humans, Infant, Newborn, Molecular Biology, Molecular Diagnostic Techniques, Societies, Medical, Medical, Societies
Published: 2010

41. EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias

Author: Harbo, H. F., Finsterer, J., Baets, J., Van Broeckhoven, C., Di Donato, S., Fontaine, B., De Jonghe, P., Lossos, A., Lynch, T., Mariotti, C., Schols, L., Spinazzola, A., Szolnoki, Z., Tabrizi, S. J., Tallaksen, C., Zeviani, M., Burgunder, J. -M., and Gasser, T.
Subjects: Huntington's disease, Genetic Counseling, Guidelines as Topic, Parkinson Disease, Dystonia, EFNS task force, Molecular diagnosis, Neurogenetic, Parkinson disease, Databases, Bibliographic, Humans, Huntington Disease, Molecular Diagnostic Techniques, Databases, Bibliographic
Abstract: These EFNS guidelines on the molecular diagnosis of neurogenetic disorders are designed to provide practical help for the general neurologist to make appropriate use of molecular genetics in diagnosing neurogenetic disorders. Since the publication of the first two EFNS-guideline papers on the molecular diagnosis of neurological diseases in 2001, rapid progress has been made in this field, necessitating an updated series of guidelines.Literature searches were performed before expert members of the task force wrote proposals, which were discussed in detail until final consensus had been reached among all task force members.This paper provides updated guidelines for molecular diagnosis of Huntington's disease, Parkinson's disease and dystonias as well as a general introduction to the topic. Possibilities and limitations of molecular genetic diagnosis of these disorders are evaluated and recommendations are provided.
Published: 2009

42. EFNS guidelines on the molecular diagnosis of mitochondrial disorders

Author: Finsterer, J., Harbo, H.F., Baets, Jonathan, Van Broeckhoven, Christine, Di Donato, S., Fontaine, B., De Jonghe, Peter, Lossos, A., Lynch, T., Mariotti, C., Schöls, L., Spinazzola, A., Szolnoki, Z., Tabrizi, S.J., Tallaksen, C.M.E., Zeviani, M., Burgunder, J.-M., and Gasser, T.
Subjects: Encephalomyopathies, Hereditary disease, Metabolic myopathies, Mitochondrial myopathy, Molecular genetics, Humans, Mitochondrial Diseases, Molecular Biology, Human medicine
Abstract: Objectives: These European Federation of Neurological Sciences (EFNS) guidelines are designed to provide practical help for the general neurologist to make appropriate use of molecular genetics for diagnosing mitochondrial disorders (MIDs), which gain increasing attention and are more frequently diagnosed due to improved diagnostic tools. Background: Since the publication of the first EFNS guidelines on the molecular diagnosis of inherited neurological diseases in 2001, rapid progress has been made in this field, necessitating the creation of an updated version. Search strategy: To collect data about the molecular diagnosis of MIDs search for literature in various electronic databases, such as Cochrane library, MEDLINE, OMIM, GENETEST or Embase, were carried out and original papers, meta-analyses, review papers, and guideline recommendations were reviewed. Results: The guidelines summarise the possibilities and limitations of molecular genetic diagnosis of MIDs and provide practical recommendations and diagnostic criteria in accordance with the EFNS Scientific Committee to guide the molecular diagnostic work-up of MIDs. Recommendations: The proposed guidelines suggest an approach to the molecular diagnosis of MIDs in a manner accessible to general neurologists.
Published: 2009

43. AFG3L2 mutations cause autosomal dominant ataxia SCA28 and reveal an essential role for the mitochondrial m-AAA protease complex in the cerebellum

Author: Di Bella, D, Lazzaro, F, Brusco, Alfredo, Battaglia, G, Pastore, A, Finardi, A, Fracasso, V, Plumari, M, Cagnoli, Claudia, Tempia, Filippo, Brussino, Alessandro, Gellera, C, Mariotti, C, Pievani, P, Di Donato, S, Langer, T, Muzi Falconi, M, and Taroni, F.
Subjects: mitochondria, AFG3L2, sca28
Published: 2009

44. EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias

Author: Harbo, H.F., Finsterer, J., Baets, Jonathan, Van Broeckhoven, Christine, di Donato, S., De Jonghe, Peter, Lossos, A., Lynch, T., Mariotti, C., Schoels, L., Spinazzola, A., Szolnoki, Z., Tabrizi, S.J., Tallaksen, C., Zeviani, M., Burgunder, J.-M., and Gasser, T.
Subjects: Human medicine
Abstract: Background and purpose: These EFNS guidelines on the molecular diagnosis of neurogenetic disorders are designed to provide practical help for the general neurologist to make appropriate use of molecular genetics in diagnosing neurogenetic disorders. Since the publication of the first two EFNS-guideline papers on the molecular diagnosis of neurological diseases in 2001, rapid progress has been made in this field, necessitating an updated series of guidelines. Methods: Literature searches were performed before expert members of the task force wrote proposals, which were discussed in detail until final consensus had been reached among all task force members. Results and conclusion: This paper provides updated guidelines for molecular diagnosis of Huntington's disease, Parkinson's disease and dystonias as well as a general introduction to the topic. Possibilities and limitations of molecular genetic diagnosis of these disorders are evaluated and recommendations are provided.
Published: 2009

45. Nadroparin for the prevention of thromboembolic events in ambulatory patients with metastatic or locally advanced solid cancer receiving chemotherapy: a randomised, placebo-controlled, double-blind study

Author: Agnelli, G, Gussoni, G, Bianchini, C, Verso, M, Mandalà, M, Cavanna, L, Barni, S, Labianca, R, Buzzi, F, Scambia, G, Passalacqua, R, Ricci, S, Gasparini, G, Lorusso, V, Bonizzoni, E, Tonato, M, PROTECHT Investigators Agnelli, G, Amadori, D, Barbui, T, Cognetti, F, Crinò, L, Mannucci, Pm, Moia, M, Gianni, L, Prandoni, P, Cesana, B, de Braud, F, Del Favero, A, Lazzaro, A, Anselmi, E, Mordenti, P, Cabiddu, M, Petrelli, F, Ghilardi, M, Poletti, P, Marelli, B, Fumagalli, D, Sabatini, S, Fumi, G, Masi, C, Salutari, V, Malaggese, M, Brighenti, M, Lazzarelli, S, Donati, G, Di Donato, S, Arrighi, G, Orlandini, C, Amici, S, Verì, A, Sarmento, R, Pollera, C, Capomolla, E, Moschetti, L, Garufi, C, Campanella, C, Torsello, A, Misino, A, Ciuffreda, L, Dongiovanni, V, Addeo, A, Vitale, Fv, Ferraù, F, Priolo, D, Muggiano, A, Mulas, C, Tedde, A, Pogliani, Ea, Ardizzoia, A, Villa, F, Montedoro, M, Bravi, S, Biagioni, F, Palazzo, S, Filice, A, Gori, S, Porrozzi, S, Ciccarese, M, Petrucelli, L, Chiuri, Ve, Passardi, A, Ravaioli, E, Ceravolo, R, Crivellari, G, Nicoletto, Mo, Brandes, A, Bertolini, S, Benedetti, G, Bernardo, G, Teragni, C, Jirillo, A, Falci, C, Santoro, A, Masci, G, Monti, M, Casanova, C, Intrivici, C, Rinaldi, G, Massidda, B, Ionta, Mt, Dogliotti, Luigi, Russo, L, Collovà, E, Luoni, M, Maiello, E, Romano, Mp, Molica, S, Battaglia, C, Doni, L, Di Costanzo, F, Giuliodori, L, Silva, Rr, Sarobba, Mg, Pinna, A, Sorarù, M, Gaion, F, Ferrandina, G, Gilli, G, Locatelli, Mc, Zanaboni, F, Bologna, A, Ferretti, G, Chini, C, Farina, G, Bronner, L, Biscottini, B, Tomirotti, M, and Sciacca, V.
Published: 2009

46. Second-line treatments in patients with metastatic colorectal cancer progressed after first-line folfoxiri

Author: Fornaro, L., Vasile, E., GIANLUCA MASI, Loupakis, F., Salvatore, L., Stasi, I., Baldi, G. G., Cupini, S., Barbara, C., Pfanner, E., Brunetti, I. M., Di Donato, S., Caponi, S., Allegrini, G., Antonuzzo, A., Ricci, S., Chiara, S., Vitello, S., Andreuccetti, M., and Alfredo Falcone
Published: 2009

47. Phase II study of first-line treatment in metastatic colorectal cancer (MCRC) with GONO-FOLFOXIRI (Irinotecan, Oxaliplatin and Infusional 5FU/LV) plus Bevacizumab

Author: GIANLUCA MASI, Loupakis, F., Vasile, E., Ciarlo, A., Cavaciocchi, D., Ciprotti, M., Donati, S., Fea, E., Di Donato, S., and Alfredo Falcone
Published: 2008

48. First-line treatment of metastatic colorectal cancer (MCRC) with folfoxiri (irinotecan, oxaliplatin and infusional 5FU/LV) in combination with bevacizumab (BV): A phase II study by the G.O.N.O. Group

Author: GIANLUCA MASI, Loupakis, F., Baldi, G., Fornaro, L., Stasi, I., Vasile, E., Ciarlo, A., Cavaciocchi, D., Di Leo, A., Puglisi, M., Ciprotti, M., Amoroso, D., Fea, E., Di Donato, S., and Alfredo Falcone
Published: 2008

49. Qualita' e sicurezza nei sistemi agroalimentari: innovazioni tecnologiche, implicazioni organizzative ed economiche

Author: Covino, Daniela, Boccia, Flavio, DI DONATO, S, and Regazzi, D.
Published: 2008

50. Long-term outcome of unresectable metastatic colorectal cancer (MCRC) patients (pts) treated with first-line folfoxiri followed by r0 surgical resection of metastases

Author: GIANLUCA MASI, Bursi, S., Loupakis, F., Barletta, M., Barbara, C., Vasile, E., Cupini, S., Brunetti, I., Pfanner, E., Di Donato, S., Dauria, G., Fanchini, L., Chiara, S., Granetto, C., and Alfredo Falcone
Published: 2007

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