955 results on '"Lohmann, K"'
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2. Neue Therapieansätze gegen schädliche mRNA-Prozessierung bei TDP-43-Erkrankungen
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Lohmann, K.
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- 2023
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3. Bilateral vestibulopathy in RFC1-positive CANVAS is distinctly different compared to FGF14-linked spinocerebellar ataxia 27B.
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Borsche, M, Thomsen, M, Szmulewicz, DJ, Lübbers, B, Hinrichs, F, Lockhart, PJ, Lohmann, K, Helmchen, C, Brüggemann, N, Borsche, M, Thomsen, M, Szmulewicz, DJ, Lübbers, B, Hinrichs, F, Lockhart, PJ, Lohmann, K, Helmchen, C, and Brüggemann, N
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- 2024
4. Die Literatur des Jahres 1954
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K. Heinemann, F. Henn, W. Lohmann, K. Heinemann, F. Henn, W. Lohmann
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- 2020
5. Grenzen der Exomsequenzierung in der Diagnostik genetischer Erkrankungen
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Prasuhn, J., Lohmann, K., Hanßen, H., Münchau, A., and Brüggemann, N.
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- 2019
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6. Antimatter and Matter Production in Heavy Ion Collisions at CERN (The NEWMASS Experiment NA52)
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Ambrosini, G., Arsenescu, R., Baglin, C., Beck, H. P., Borer, K., Bussiere, A., Elsener, K., Gorodetzky, Ph., Guillaud, J. P., Hess, P., Kabana, S., Klingenberg, R., Lehmann, G., Linden, T., Lohmann, K. D., Mommsen, R., Moser, U., Pretzl, K., Schacher, J., Spiwoks, R., Stoffel, F., Tuominiemi, J., and Weber, M.
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Nuclear Experiment - Abstract
Besides the dedicated search for strangelets NA52 measures light (anti)particle and (anti)nuclei production over a wide range of rapidity. Compared to previous runs the statistics has been increased in the 1998 run by more than one order of magnitude for negatively charged objects at different spectrometer rigidities. Together with previous data taking at a rigidity of -20 GeV/c we obtained 10^6 antiprotons 10^3 antideuterons and two antihelium3 without centrality requirements. We measured nuclei and antinuclei (p,d,antiprotons, antideuterons) near midrapidity covering an impact parameter range of b=2-12 fm. Our results strongly indicate that nuclei and antinuclei are mainly produced via the coalescence mechanism. However the centrality dependence of the antibaryon to baryon ratios show that antibaryons are diminished due to annihilation and breakup reactions in the hadron dense environment. The volume of the particle source extracted from coalescence models agrees with results from pion interferometry for an expanding source. The chemical and thermal freeze-out of nuclei and antinuclei appear to coincide with each other and with the thermal freeze-out of hadrons., Comment: 12 pages, 8 figures, to appear in the proceedings of the conference on 'Fundamental Issues in Elementary Matter' Bad Honnef, Germany, Sept. 25-29, 2000
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- 2000
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7. Centrality dependence of K+ produced in Pb+Pb collisions at 158 GeV per nucleon
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NA52 collaboration, Arsenescu, R., Baglin, C., Beck, H. P., Borer, K., Bussiere, A., Elsener, K., Gorodetzky, Ph., Guillaud, J. P., Kabana, S., Klingenberg, R., Lehmann, G., Linden, T., Lohmann, K. D., Mommsen, R., Moser, U., Pretzl, K., Schacher, J., Spiwoks, R., Tuominiemi, J., and Weber, M.
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High Energy Physics - Experiment - Abstract
The NA52 collaboration searches for a discontinuous behaviour of charged kaons produced in Pb+Pb collisions at 158 A GeV as a function of the impact parameter, which could reveal a hadron to quark-gluon plasma (QGP) phase transition. The K+ yield is found to grow proportional to the number of participating ('wounded') nucleons N, above N=100. Previous NA52 data agree with the above finding and show a discontinuous behaviour in the kaon centrality dependence near N=100, marking the onset of strangeness enhancement -over e.g. p+A data at the same \sqrt{s}- in a chemically equilibrated phase., Comment: 2 pages, 2 figures, Proceedings of the Vth International Conference on Strangeness in Quark Matter, 20-25 July 2000, Berkeley, California. To appear in Journal of Physics G: Nuclear and Particle Physics
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- 2000
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8. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
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Denomme-Pichon A. -S., Bruel A. -L., Duffourd Y., Safraou H., Thauvin-Robinet C., Tran Mau-Them F., Philippe C., Vitobello A., Jean-Marcais N., Moutton S., Thevenon J., Faivre L., Matalonga L., de Boer E., Gilissen C., Hoischen A., Kleefstra T., Pfundt R., de Vries B. B. A., Willemsen M. H., Vissers L. E. L. M., Jackson A., Banka S., Clayton-Smith J., Benetti E., Fallerini C., Renieri A., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Ellwanger K., Graessner H., Haack T. B., Zurek B., Havlovicova M., Macek M., Ryba L., Schwarz M., Votypka P., Lopez-Martin E., Posada M., Mencarelli M. A., Rooryck C., Trimouille A., Verloes A., Abbott K. M., Kerstjens M., Martin E. L., Maystadt I., Morleo M., Nigro V., Pinelli M., Riess O., Agathe J. -M. D. S., Santen G. W. E., Thauvin C., Torella A., Vissers L., Zguro K., Boer E. D., Cohen E., Danis D., Gao F., Horvath R., Johari M., Johanson L., Li S., Morsy H., Nelson I., Paramonov I., te Paske I. B. A. W., Robinson P., Savarese M., Steyaert W., Topf A., van der Velde J. K., Vandrovcova J., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Schule R., Xu J., Kessler C., Wayand M., Synofzik M., Wilke C., Traschutz A., Schols L., Hengel H., Lerche H., Kegele J., Heutink P., Brunner H., Scheffer H., Hoogerbrugge N., 't Hoen P. A. C., Sablauskas K., de Voer R. M., Kamsteeg E. -J., van de Warrenburg B., van Os N., Paske I. T., Janssen E., Steehouwer M., Yaldiz B., Brookes A. J., Veal C., Gibson S., Maddi V., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Straub V., Bettolo C. M., Manera J. D., Hambleton S., Engelhardt K., Alexander E., Peyron C., Pelissier A., Beltran S., Gut I. G., Laurie S., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Fernandez-Callejo M., Hernandez C., Pico D., Lochmuller H., Gumus G., Bros-Facer V., Rath A., Hanauer M., Lagorce D., Hongnat O., Chahdil M., Lebreton E., Stevanin G., Durr A., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Bonne G., Evangelista T., Allamand V., Ben Yaou R., Metay C., Eymard B., Atalaia A., Stojkovic T., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Liskova P., Dolezalova P., Parkinson H., Keane T., Freeberg M., Thomas C., Spalding D., Robert G., Costa A., Patch C., Hanna M., Houlden H., Reilly M., Efthymiou S., Cali E., Magrinelli F., Sisodiya S. M., Rohrer J., Muntoni F., Zaharieva I., Sarkozy A., Timmerman V., Baets J., de Vries G., De Winter J., Beijer D., de Jonghe P., Van de Vondel L., De Ridder W., Weckhuysen S., Mutarelli M., Varavallo A., Banfi S., Musacchia F., Piluso G., Ferlini A., Selvatici R., Gualandi F., Bigoni S., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Vries G., Neerincx P. B., Ruvolo D., Kerstjens Frederikse W. S., Zonneveld-Huijssoon E., Roelofs-Prins D., van Gijn M., Kohler S., Metcalfe A., Drunat S., Heron D., Mignot C., Keren B., Lacombe D., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Cilio M. -R., Carpancea E., Depondt C., Lederer D., Sznajer Y., Duerinckx S., Mary S., Macaya A., Cazurro-Gutierrez A., Perez-Duenas B., Munell F., Jarava C. F., Maso L. B., Marce-Grau A., Colobran R., Hackman P., Udd B., Hemelsoet D., Dermaut B., Schuermans N., Poppe B., Verdin H., Osorio A. N., Depienne C., Roos A., Cordts I., Deschauer M., Striano P., Zara F., Riva A., Iacomino M., Uva P., Scala M., Scudieri P., Basak A. N., Claeys K., Boztug K., Haimel M., W. E G., Ruivenkamp C. A. L., Natera de Benito D., Thompson R., Polavarapu K., Grimbacher B., Zaganas I., Kokosali E., Lambros M., Evangeliou A., Spilioti M., Kapaki E., Bourbouli M., Balicza P., Molnar M. J., De la Paz M. P., Sanchez E. B., Delgado B. M., Alonso Garcia de la Rosa F. J., Schrock E., Rump A., Mei D., Vetro A., Balestrini S., Guerrini R., Chinnery P. F., Ratnaike T., Schon K., Maver A., Peterlin B., Munchau A., Lohmann K., Herzog R., Pauly M., May P., Beeson D., Cossins J., Furini S., Afenjar A., Goldenberg A., Masurel A., Phan A., Dieux-Coeslier A., Fargeot A., Guerrot A. -M., Toutain A., Molin A., Sorlin A., Putoux A., Jouret B., Laudier B., Demeer B., Doray B., Bonniaud B., Isidor B., Gilbert-Dussardier B., Leheup B., Reversade B., Paul C., Vincent-Delorme C., Neiva C., Poirsier C., Quelin C., Chiaverini C., Coubes C., Francannet C., Colson C., Desplantes C., Wells C., Goizet C., Sanlaville D., Amram D., Lehalle D., Genevieve D., Gaillard D., Zivi E., Sarrazin E., Steichen E., Schaefer E., Lacaze E., Jacquemin E., Bongers E., Kilic E., Colin E., Giuliano F., Prieur F., Laffargue F., Morice-Picard F., Petit F., Cartault F., Feillet F., Baujat G., Morin G., Diene G., Journel H., Perthus I., Lespinasse J., Alessandri J. -L., Amiel J., Martinovic J., Delanne J., Albuisson J., Lambert L., Perrin L., Ousager L. B., Van Maldergem L., Pinson L., Ruaud L., Samimi M., Bournez M., Bonnet-Dupeyron M. N., Vincent M., Jacquemont M. -L., Cordier-Alex M. -P., Gerard-Blanluet M., Willems M., Spodenkiewicz M., Doco-Fenzy M., Rossi M., Renaud M., Fradin M., Mathieu M., Holder-Espinasse M. H., Houcinat N., Hanna N., Leperrier N., Chassaing N., Philip N., Boute O., Van Kien P. K., Parent P., Bitoun P., Sarda P., Vabres P., Jouk P. -S., Touraine R., El Chehadeh S., Whalen S., Marlin S., Passemard S., Grotto S., Bellanger S. A., Blesson S., Nambot S., Naudion S., Lyonnet S., Odent S., Attie-Bitach T., Busa T., Drouin-Garraud V., Layet V., Bizaoui V., Cusin V., Capri Y., Alembik Y., Unión Europea. Comisión Europea. H2020, Unión Europea. Comisión Europea. 7 Programa Marco, Instituto de Salud Carlos III, Instituto Nacional de Bioinformatica (España), Ministry of Health (República Checa), Ministry of Education, Youth and Sports (República Checa), Denomme-Pichon, A. -S., Bruel, A. -L., Duffourd, Y., Safraou, H., Thauvin-Robinet, C., Tran Mau-Them, F., Philippe, C., Vitobello, A., Jean-Marcais, N., Moutton, S., Thevenon, J., Faivre, L., Matalonga, L., de Boer, E., Gilissen, C., Hoischen, A., Kleefstra, T., Pfundt, R., de Vries, B. B. A., Willemsen, M. H., Vissers, L. E. L. M., Jackson, A., Banka, S., Clayton-Smith, J., Benetti, E., Fallerini, C., Renieri, A., Ciolfi, A., Dallapiccola, B., Pizzi, S., Radio, F. C., Tartaglia, M., Ellwanger, K., Graessner, H., Haack, T. B., Zurek, B., Havlovicova, M., Macek, M., Ryba, L., Schwarz, M., Votypka, P., Lopez-Martin, E., Posada, M., Mencarelli, M. A., Rooryck, C., Trimouille, A., Verloes, A., Abbott, K. M., Kerstjens, M., Martin, E. L., Maystadt, I., Morleo, M., Nigro, V., Pinelli, M., Riess, O., Agathe, J. -M. D. S., Santen, G. W. E., Thauvin, C., Torella, A., Vissers, L., Zguro, K., Boer, E. D., Cohen, E., Danis, D., Gao, F., Horvath, R., Johari, M., Johanson, L., Li, S., Morsy, H., Nelson, I., Paramonov, I., te Paske, I. B. A. W., Robinson, P., Savarese, M., Steyaert, W., Topf, A., van der Velde, J. K., Vandrovcova, J., Ossowski, S., Demidov, G., Sturm, M., Schulze-Hentrich, J. M., Schule, R., Xu, J., Kessler, C., Wayand, M., Synofzik, M., Wilke, C., Traschutz, A., Schols, L., Hengel, H., Lerche, H., Kegele, J., Heutink, P., Brunner, H., Scheffer, H., Hoogerbrugge, N., 't Hoen, P. A. C., Sablauskas, K., de Voer, R. M., Kamsteeg, E. -J., van de Warrenburg, B., van Os, N., Paske, I. T., Janssen, E., Steehouwer, M., Yaldiz, B., Brookes, A. J., Veal, C., Gibson, S., Maddi, V., Mehtarizadeh, M., Riaz, U., Warren, G., Dizjikan, F. Y., Shorter, T., Straub, V., Bettolo, C. M., Manera, J. D., Hambleton, S., Engelhardt, K., Alexander, E., Peyron, C., Pelissier, A., Beltran, S., Gut, I. G., Laurie, S., Piscia, D., Papakonstantinou, A., Bullich, G., Corvo, A., Fernandez-Callejo, M., Hernandez, C., Pico, D., Lochmuller, H., Gumus, G., Bros-Facer, V., Rath, A., Hanauer, M., Lagorce, D., Hongnat, O., Chahdil, M., Lebreton, E., Stevanin, G., Durr, A., Davoine, C. -S., Guillot-Noel, L., Heinzmann, A., Coarelli, G., Bonne, G., Evangelista, T., Allamand, V., Ben Yaou, R., Metay, C., Eymard, B., Atalaia, A., Stojkovic, T., Turnovec, M., Thomasova, D., Kremlikova, R. P., Frankova, V., Liskova, P., Dolezalova, P., Parkinson, H., Keane, T., Freeberg, M., Thomas, C., Spalding, D., Robert, G., Costa, A., Patch, C., Hanna, M., Houlden, H., Reilly, M., Efthymiou, S., Cali, E., Magrinelli, F., Sisodiya, S. M., Rohrer, J., Muntoni, F., Zaharieva, I., Sarkozy, A., Timmerman, V., Baets, J., de Vries, G., De Winter, J., Beijer, D., de Jonghe, P., Van de Vondel, L., De Ridder, W., Weckhuysen, S., Mutarelli, M., Varavallo, A., Banfi, S., Musacchia, F., Piluso, G., Ferlini, A., Selvatici, R., Gualandi, F., Bigoni, S., Rossi, R., Neri, M., Aretz, S., Spier, I., Sommer, A. K., Peters, S., Oliveira, C., Pelaez, J. G., Matos, A. R., Jose, C. S., Ferreira, M., Gullo, I., Fernandes, S., Garrido, L., Ferreira, P., Carneiro, F., Swertz, M. A., Johansson, L., van der Vries, G., Neerincx, P. B., Ruvolo, D., Kerstjens Frederikse, W. S., Zonneveld-Huijssoon, E., Roelofs-Prins, D., van Gijn, M., Kohler, S., Metcalfe, A., Drunat, S., Heron, D., Mignot, C., Keren, B., Lacombe, D., Capella, G., Valle, L., Holinski-Feder, E., Laner, A., Steinke-Lange, V., Cilio, M. -R., Carpancea, E., Depondt, C., Lederer, D., Sznajer, Y., Duerinckx, S., Mary, S., Macaya, A., Cazurro-Gutierrez, A., Perez-Duenas, B., Munell, F., Jarava, C. F., Maso, L. B., Marce-Grau, A., Colobran, R., Hackman, P., Udd, B., Hemelsoet, D., Dermaut, B., Schuermans, N., Poppe, B., Verdin, H., Osorio, A. N., Depienne, C., Roos, A., Cordts, I., Deschauer, M., Striano, P., Zara, F., Riva, A., Iacomino, M., Uva, P., Scala, M., Scudieri, P., Basak, A. N., Claeys, K., Boztug, K., Haimel, M., W. E, G., Ruivenkamp, C. A. L., Natera de Benito, D., Thompson, R., Polavarapu, K., Grimbacher, B., Zaganas, I., Kokosali, E., Lambros, M., Evangeliou, A., Spilioti, M., Kapaki, E., Bourbouli, M., Balicza, P., Molnar, M. J., De la Paz, M. P., Sanchez, E. B., Delgado, B. M., Alonso Garcia de la Rosa, F. J., Schrock, E., Rump, A., Mei, D., Vetro, A., Balestrini, S., Guerrini, R., Chinnery, P. F., Ratnaike, T., Schon, K., Maver, A., Peterlin, B., Munchau, A., Lohmann, K., Herzog, R., Pauly, M., May, P., Beeson, D., Cossins, J., Furini, S., Afenjar, A., Goldenberg, A., Masurel, A., Phan, A., Dieux-Coeslier, A., Fargeot, A., Guerrot, A. -M., Toutain, A., Molin, A., Sorlin, A., Putoux, A., Jouret, B., Laudier, B., Demeer, B., Doray, B., Bonniaud, B., Isidor, B., Gilbert-Dussardier, B., Leheup, B., Reversade, B., Paul, C., Vincent-Delorme, C., Neiva, C., Poirsier, C., Quelin, C., Chiaverini, C., Coubes, C., Francannet, C., Colson, C., Desplantes, C., Wells, C., Goizet, C., Sanlaville, D., Amram, D., Lehalle, D., Genevieve, D., Gaillard, D., Zivi, E., Sarrazin, E., Steichen, E., Schaefer, E., Lacaze, E., Jacquemin, E., Bongers, E., Kilic, E., Colin, E., Giuliano, F., Prieur, F., Laffargue, F., Morice-Picard, F., Petit, F., Cartault, F., Feillet, F., Baujat, G., Morin, G., Diene, G., Journel, H., Perthus, I., Lespinasse, J., Alessandri, J. -L., Amiel, J., Martinovic, J., Delanne, J., Albuisson, J., Lambert, L., Perrin, L., Ousager, L. B., Van Maldergem, L., Pinson, L., Ruaud, L., Samimi, M., Bournez, M., Bonnet-Dupeyron, M. N., Vincent, M., Jacquemont, M. -L., Cordier-Alex, M. -P., Gerard-Blanluet, M., Willems, M., Spodenkiewicz, M., Doco-Fenzy, M., Rossi, M., Renaud, M., Fradin, M., Mathieu, M., Holder-Espinasse, M. H., Houcinat, N., Hanna, N., Leperrier, N., Chassaing, N., Philip, N., Boute, O., Van Kien, P. K., Parent, P., Bitoun, P., Sarda, P., Vabres, P., Jouk, P. -S., Touraine, R., El Chehadeh, S., Whalen, S., Marlin, S., Passemard, S., Grotto, S., Bellanger, S. A., Blesson, S., Nambot, S., Naudion, S., Lyonnet, S., Odent, S., Attie-Bitach, T., Busa, T., Drouin-Garraud, V., Layet, V., Bizaoui, V., Cusin, V., Capri, Y., Alembik, Y., and Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center]
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Exome reanalysis ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,Multidisciplinaire, généralités & autres [D99] [Sciences de la santé humaine] ,Developmental disorder ,lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4] ,Biology and Life Sciences ,Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6] ,ClinVar ,Rare diseases ,All institutes and research themes of the Radboud University Medical Center ,Medicine and Health Sciences ,Genetics & genetic processes [F10] [Life sciences] ,Génétique & processus génétiques [F10] [Sciences du vivant] ,Multidisciplinary, general & others [D99] [Human health sciences] ,Exome reanalysi ,Genetics (clinical) - Abstract
Purpose: Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the "ClinVar low-hanging fruit" reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods: Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results: We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion: The "ClinVar low-hanging fruit" analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock. The Solve-RD project has received funding from the European Union’s Horizon 2020 research and innovation program under grant agreement number 779257. Data were analyzed using the RD-Connect Genome-Phenome Analysis Platform, which received funding from the EU projects RD-Connect, Solve-RD, and European Joint Programme on Rare Diseases (grant numbers FP7 305444, H2020 779257, H2020 825575), Instituto de Salud Carlos III (grant numbers PT13/0001/0044, PT17/0009/0019; Instituto Nacional de Bioinformática), and ELIXIR Implementation Studies. The collaborations in this study were facilitated by the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies, one of the 24 European Reference Networks approved by the European Reference Network Board of Member States, cofunded by the European Commission. This project was supported by the Czech Ministry of Health (number 00064203) and by the Czech Ministry of Education, Youth and Sports (number - LM2018132) to M.M. Sí
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- 2023
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9. Gesundheitsmanagement für Studierende – eine Herausforderung für Hochschulen
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Gusy, B., Lohmann, K., Wörfel, F., Badura, Bernhard, editor, Ducki, Antje, editor, Schröder, Helmut, editor, Klose, Joachim, editor, and Meyer, Markus, editor
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- 2015
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10. Extratropical Transition of Tropical Cyclones in a Multiresolution Ensemble of Atmosphere-Only and Fully Coupled Global Climate Models
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Baker, A., Roberts, M., Vidale, P., Hodges, K., Seddon, J., Vanniere, B., Haarsma, R., Schiemann, R., Kapetanakis, D., Tourigny, E., Lohmann, K., Roberts, C., Terray, L., and Barcelona Supercomputing Center
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Climatology ,Atmospheric Science ,Tropical cyclones ,Simulació per ordinador ,Desenvolupament humà i sostenible::Degradació ambiental::Canvi climàtic [Àrees temàtiques de la UPC] ,General circulation models ,Climate change ,Extratropical transition - Abstract
Tropical cyclones undergo extratropical transition (ET) in every ocean basin. Projected changes in ET frequency under climate change are uncertain and differ between basins, so multimodel studies are required to establish confidence. We used a feature-tracking algorithm to identify tropical cyclones and performed cyclone phase-space analysis to identify ET in an ensemble of atmosphere-only and fully coupled global model simulations, run at various resolutions under historical (1950–2014) and future (2015–50) forcing. Historical simulations were evaluated against five reanalyses for 1979–2018. Considering ET globally, ensemble-mean biases in track and genesis densities are reduced in the North Atlantic and western North Pacific when horizontal resolution is increased from ∼100 to ∼25 km. At high resolution, multi-reanalysis-mean climatological ET frequencies across most ocean basins as well as basins’ seasonal cycles are reproduced better than in low-resolution models. Skill in simulating historical ET interannual variability in the North Atlantic and western North Pacific is ∼0.3, which is lower than for all tropical cyclones. Models project an increase in ET frequency in the North Atlantic and a decrease in the western North Pacific. We explain these opposing responses by secular change in ET seasonality and an increase in lower-tropospheric, pre-ET warm-core strength, both of which are largely unique to the North Atlantic. Multimodel consensus about climate change responses is clearer for frequency metrics than for intensity metrics. These results help clarify the role of model resolution in simulating ET and help quantify uncertainty surrounding ET in a warming climate. All authors received financial support from the PRIMAVERA project (European Commission Horizon2020 Grant Agreement 641727) with data access via JASMIN (https://jasmin.ac.uk) supported by IS-ENES3 (Grant Agreement 824084). AJB also received support from National Environmental Research Council (NERC) national capability grant for the North Atlantic Climate System: Integrated study (ACSIS) program (Grants NE/N018001/1, NE/N018044/1, NE/N018028/1, and NE/N018052/1). KL received funding from the German Federal Ministry of Education and Research (BMBF) through JPI Climate/JPI Oceans NextG-Climate Science-ROADMAP (FKZ: 01LP2002A). The authors are grateful to the editor and to three anonymous reviewers, whose recommendations improved this paper. AJB, PLV, RJH, and MJR conceived the study. Simulations were performed by MJR, ET, KL, CDR, and LT. Output data were managed by JS. MJR performed the cyclone tracking. BV computed the Eady growth rate. AJB undertook cyclone phase-space analysis and all other data analyses, figure preparation, and wrote the manuscript. All authors provided input in interpreting results and approved the final manuscript. The authors declare no competing interests. Peer Reviewed "Article signat per 13 autors/es: Alexander J. Baker, Malcolm J. Roberts, Pier Luigi Vidale, Kevin I. Hodges, Jon Seddon, Benoît Vannière, Rein J. Haarsma, Reinhard Schiemann, Dimitris Kapetanakis, Etienne Tourigny, Katja Lohmann, Christopher D. Roberts, and Laurent Terray"
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- 2022
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11. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14
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Rafehi, H, Read, J, Szmulewicz, DJ, Davies, KC, Snell, P, Fearnley, LG, Scott, L, Thomsen, M, Gillies, G, Pope, K, Bennett, MF, Munro, JE, Ngo, KJ, Chen, L, Wallis, MJ, Butler, EG, Kumar, KR, Wu, KHC, Tomlinson, SE, Tisch, S, Malhotra, A, Lee-Archer, M, Dolzhenko, E, Eberle, MA, Roberts, LJ, Fogel, BL, Bruggemann, N, Lohmann, K, Delatycki, MB, Bahlo, M, Lockhart, PJ, Rafehi, H, Read, J, Szmulewicz, DJ, Davies, KC, Snell, P, Fearnley, LG, Scott, L, Thomsen, M, Gillies, G, Pope, K, Bennett, MF, Munro, JE, Ngo, KJ, Chen, L, Wallis, MJ, Butler, EG, Kumar, KR, Wu, KHC, Tomlinson, SE, Tisch, S, Malhotra, A, Lee-Archer, M, Dolzhenko, E, Eberle, MA, Roberts, LJ, Fogel, BL, Bruggemann, N, Lohmann, K, Delatycki, MB, Bahlo, M, and Lockhart, PJ
- Abstract
Adult-onset cerebellar ataxias are a group of neurodegenerative conditions that challenge both genetic discovery and molecular diagnosis. In this study, we identified an intronic (GAA) repeat expansion in fibroblast growth factor 14 (FGF14). Genetic analysis of 95 Australian individuals with adult-onset ataxia identified four (4.2%) with (GAA)>300 and a further nine individuals with (GAA)>250. PCR and long-read sequence analysis revealed these were pure (GAA) repeats. In comparison, no control subjects had (GAA)>300 and only 2/311 control individuals (0.6%) had a pure (GAA)>250. In a German validation cohort, 9/104 (8.7%) of affected individuals had (GAA)>335 and a further six had (GAA)>250, whereas 10/190 (5.3%) control subjects had (GAA)>250 but none were (GAA)>335. The combined data suggest (GAA)>335 are disease causing and fully penetrant (p = 6.0 × 10-8, OR = 72 [95% CI = 4.3-1,227]), while (GAA)>250 is likely pathogenic with reduced penetrance. Affected individuals had an adult-onset, slowly progressive cerebellar ataxia with variable features including vestibular impairment, hyper-reflexia, and autonomic dysfunction. A negative correlation between age at onset and repeat length was observed (R2 = 0.44, p = 0.00045, slope = -0.12) and identification of a shared haplotype in a minority of individuals suggests that the expansion can be inherited or generated de novo during meiotic division. This study demonstrates the power of genome sequencing and advanced bioinformatic tools to identify novel repeat expansions via model-free, genome-wide analysis and identifies SCA50/ATX-FGF14 as a frequent cause of adult-onset ataxia.
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- 2023
12. Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
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Vollstedt, E.J., Schaake, S., Lohmann, K., Padmanabhan, S., Brice, A., Lesage, S., Tesson, C., Vidailhet, M., Wurster, I., Hentati, F., Mirelman, A., Giladi, N., Marder, K., Waters, C., Fahn, S., Kasten, M., Brüggemann, N., Borsche, M., Foroud, T., Tolosa, E., Garrido, A., Annesi, G., Gagliardi, M., Bozi, M., Stefanis, L., Ferreira, J.J., Guedes, L. Correia, Avenali, M., Petrucci, S., Clark, L., Fedotova, E.Y., Abramycheva, N.Y., Alvarez, V., Menéndez-González, M., Maestre, S. Jesús, Gómez-Garre, P., Mir, P., Belin, A.C., Ran, C., Lin, Chih-Yu, Kuo, M.C., Crosiers, D., Wszolek, Z.K., Ross, O.A., Jankovic, J., Nishioka, K., Funayama, M., Clarimon, J., Williams-Gray, C.H., Camacho, M., Cornejo-Olivas, M., Torres-Ramirez, L., Wu, Y.R., Lee-Chen, G.J., Morgadinho, A., Pulkes, T., Termsarasab, P., Berg, D., Kuhlenbäumer, G., Kühn, A.A., Borngräber, F., Michele, G. de, Rosa, A. De, Zimprich, A., Puschmann, A., Mellick, G.D., Dorszewska, J., Carr, J., Ferese, R., Gambardella, S., Chase, B., Markopoulou, K., Satake, W., Toda, T., Rossi, M., Merello, M., Lynch, T., Olszewska, D.A., Lim, S.Y., Ahmad-Annuar, A., Tan, A.H., Al-Mubarak, B., Hanagasi, H., Koziorowski, D., Ertan, S., Genç, G., Aguiar, P. de Carvalho, Barkhuizen, M., Pimentel, M.M.G., Saunders-Pullman, R., Warrenburg, B.P.C. van de, Bressman, S., Toft, M., Appel-Cresswell, S., Lang, A.E., Skorvanek, M., Boon, A.J., Krüger, R., Sammler, E.M., Tumas, V., et al., Vollstedt, E.J., Schaake, S., Lohmann, K., Padmanabhan, S., Brice, A., Lesage, S., Tesson, C., Vidailhet, M., Wurster, I., Hentati, F., Mirelman, A., Giladi, N., Marder, K., Waters, C., Fahn, S., Kasten, M., Brüggemann, N., Borsche, M., Foroud, T., Tolosa, E., Garrido, A., Annesi, G., Gagliardi, M., Bozi, M., Stefanis, L., Ferreira, J.J., Guedes, L. Correia, Avenali, M., Petrucci, S., Clark, L., Fedotova, E.Y., Abramycheva, N.Y., Alvarez, V., Menéndez-González, M., Maestre, S. Jesús, Gómez-Garre, P., Mir, P., Belin, A.C., Ran, C., Lin, Chih-Yu, Kuo, M.C., Crosiers, D., Wszolek, Z.K., Ross, O.A., Jankovic, J., Nishioka, K., Funayama, M., Clarimon, J., Williams-Gray, C.H., Camacho, M., Cornejo-Olivas, M., Torres-Ramirez, L., Wu, Y.R., Lee-Chen, G.J., Morgadinho, A., Pulkes, T., Termsarasab, P., Berg, D., Kuhlenbäumer, G., Kühn, A.A., Borngräber, F., Michele, G. de, Rosa, A. De, Zimprich, A., Puschmann, A., Mellick, G.D., Dorszewska, J., Carr, J., Ferese, R., Gambardella, S., Chase, B., Markopoulou, K., Satake, W., Toda, T., Rossi, M., Merello, M., Lynch, T., Olszewska, D.A., Lim, S.Y., Ahmad-Annuar, A., Tan, A.H., Al-Mubarak, B., Hanagasi, H., Koziorowski, D., Ertan, S., Genç, G., Aguiar, P. de Carvalho, Barkhuizen, M., Pimentel, M.M.G., Saunders-Pullman, R., Warrenburg, B.P.C. van de, Bressman, S., Toft, M., Appel-Cresswell, S., Lang, A.E., Skorvanek, M., Boon, A.J., Krüger, R., Sammler, E.M., and Tumas, V., et al.
- Abstract
Item does not contain fulltext, BACKGROUND: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited. OBJECTIVE: The objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD. METHODS: We conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype-phenotype relationships were analyzed. RESULTS: We collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published. CONCLUSIONS: Within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward
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- 2023
13. Genotype-Phenotype Correlations for ATX-TBP (SCA17): MDSGene Systematic Review.
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Rossi, M., Hamed, M., Rodríguez-Antigüedad, J., Cornejo-Olivas, M., Breza, M., Lohmann, K., Klein, C., Rajalingam, R., Marras, C., Warrenburg, B.P.C. van de, Rossi, M., Hamed, M., Rodríguez-Antigüedad, J., Cornejo-Olivas, M., Breza, M., Lohmann, K., Klein, C., Rajalingam, R., Marras, C., and Warrenburg, B.P.C. van de
- Abstract
Item does not contain fulltext, Spinocerebellar ataxia type 17 or ATX-TBP is a CAG/CAA repeat expansion disorder characterized by marked clinical heterogeneity. Reports of affected carriers with subthreshold repeat expansions and of patients with Parkinson's disease (PD) with expanded repeats have cast doubt on the established cutoff values of the expansions and the phenotypic spectrum of this disorder. The objective of this systematic review was to explore the genotype-phenotype relationships for repeat expansions in TBP to delineate the ATX-TBP phenotype and reevaluate the pathological range of repeat expansions. The International Parkinson and Movement Disorder Society Genetic Mutation Database (MDSGene) standardized data extraction protocol was followed. Clinically affected carriers of reported ATX-TBP expansions were included. Publications that contained repeat sizes in screened cohorts of patients with PD and/or healthy individuals were included for a separate evaluation of cutoff values. Phenotypic and genotypic data for 346 ATX-TBP patients were curated. Overall, 97.7% of the patients had ≥41 repeats, while 99.6% of patients with PD and 99.9% of healthy individuals had ≤42 repeats, with a gray zone of reduced penetrance between 41 and 45 repeats. Pure parkinsonism was more common in ATX-TBP patients with 41 to 45 repeats than in the group with ≥46 repeats, which conversely more often presented with a complex phenotype with mixed movement disorders. An updated genotype-phenotype assessment for ATX-TBP is provided, and new repeat expansion cutoff values of reduced penetrance (41-45 expanded repeats) and full penetrance (46-66 expanded repeats) are proposed. These adjusted cutoff values will have diagnostic and counseling implications and may guide future clinical trial protocol. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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- 2023
14. Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project.
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Vollstedt, E.J., Madoev, H., Aasly, A., Ahmad-Annuar, A., Al-Mubarak, B., Alcalay, R.N., Alvarez, V., Amorin, I., Annesi, G., Arkadir, D., Bardien, S., Barker, R.A., Barkhuizen, M., Basak, A.N., Bonifati, V., Boon, A., Brighina, L., Brockmann, K., Carmine Belin, A., Carr, J., Clarimon, J., Cornejo-Olivas, M., Correia Guedes, L., Corvol, J.C., Crosiers, D., Damásio, J., Das, P., Carvalho Aguiar, P. de, Rosa, A. De, Dorszewska, J., Ertan, S., Ferese, R., Ferreira, J., Gatto, E., Genç, G., Giladi, N., Gómez-Garre, P., Hanagasi, H., Hattori, N., Hentati, F., Hoffman-Zacharska, D., Illarioshkin, S.N., Jankovic, J., Jesús, S., Kaasinen, V., Kievit, A., Klivenyi, P., Kostic, V., Koziorowski, D., Kühn, A.A., Lang, A.E., Lim, S.Y., Lin, Chih-Yu, Lohmann, K., Markovic, V., Martikainen, M.H., Mellick, G., Merello, M., Milanowski, L., Mir, P., Öztop-Çakmak, Ö., Pimentel, M.M.G., Pulkes, T., Puschmann, A., Rogaeva, E., Sammler, E.M., Skaalum Petersen, M., Skorvanek, M., Spitz, M., Suchowersky, O., Tan, A.H., Termsarasab, P., Thaler, Avner, Tumas, V., Valente, E.M., Warrenburg, B.P.C. van de, Williams-Gray, C.H., Wu, R.M., Zhang, B., Zimprich, A., Solle, J., Padmanabhan, S., Klein, Christine, Vollstedt, E.J., Madoev, H., Aasly, A., Ahmad-Annuar, A., Al-Mubarak, B., Alcalay, R.N., Alvarez, V., Amorin, I., Annesi, G., Arkadir, D., Bardien, S., Barker, R.A., Barkhuizen, M., Basak, A.N., Bonifati, V., Boon, A., Brighina, L., Brockmann, K., Carmine Belin, A., Carr, J., Clarimon, J., Cornejo-Olivas, M., Correia Guedes, L., Corvol, J.C., Crosiers, D., Damásio, J., Das, P., Carvalho Aguiar, P. de, Rosa, A. De, Dorszewska, J., Ertan, S., Ferese, R., Ferreira, J., Gatto, E., Genç, G., Giladi, N., Gómez-Garre, P., Hanagasi, H., Hattori, N., Hentati, F., Hoffman-Zacharska, D., Illarioshkin, S.N., Jankovic, J., Jesús, S., Kaasinen, V., Kievit, A., Klivenyi, P., Kostic, V., Koziorowski, D., Kühn, A.A., Lang, A.E., Lim, S.Y., Lin, Chih-Yu, Lohmann, K., Markovic, V., Martikainen, M.H., Mellick, G., Merello, M., Milanowski, L., Mir, P., Öztop-Çakmak, Ö., Pimentel, M.M.G., Pulkes, T., Puschmann, A., Rogaeva, E., Sammler, E.M., Skaalum Petersen, M., Skorvanek, M., Spitz, M., Suchowersky, O., Tan, A.H., Termsarasab, P., Thaler, Avner, Tumas, V., Valente, E.M., Warrenburg, B.P.C. van de, Williams-Gray, C.H., Wu, R.M., Zhang, B., Zimprich, A., Solle, J., Padmanabhan, S., and Klein, Christine
- Abstract
Item does not contain fulltext, Parkinson's disease (PD) is the fastest-growing neurodegenerative disorder, currently affecting ~7 million people worldwide. PD is clinically and genetically heterogeneous, with at least 10% of all cases explained by a monogenic cause or strong genetic risk factor. However, the vast majority of our present data on monogenic PD is based on the investigation of patients of European White ancestry, leaving a large knowledge gap on monogenic PD in underrepresented populations. Gene-targeted therapies are being developed at a fast pace and have started entering clinical trials. In light of these developments, building a global network of centers working on monogenic PD, fostering collaborative research, and establishing a clinical trial-ready cohort is imperative. Based on a systematic review of the English literature on monogenic PD and a successful team science approach, we have built up a network of 59 sites worldwide and have collected information on the availability of data, biomaterials, and facilities. To enable access to this resource and to foster collaboration across centers, as well as between academia and industry, we have developed an interactive map and online tool allowing for a quick overview of available resources, along with an option to filter for specific items of interest. This initiative is currently being merged with the Global Parkinson's Genetics Program (GP2), which will attract additional centers with a focus on underrepresented sites. This growing resource and tool will facilitate collaborative research and impact the development and testing of new therapies for monogenic and potentially for idiopathic PD patients.
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- 2023
15. Embracing monogenic Parkinson's disease: the MJFF Global Genetic PD cohort
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Ertan, Fatoş Sibel (ORCID 0000-0003-1339-243X & YÖK ID 112829), Vollstedt, E.J.; Schaake, S.; Lohmann, K.; Padmanabhan, S.; Brice, A.; Lesage, S.; Tesson, C.; Vidailhet, M.; Wurster, I.; Hentati, F.; Mirelman, A.; Giladi, N.; Marder, K.; Waters, C.; Fahn, S.; Kasten, M.; Brüggemann, N.; Borsche, M.; Foroud, T.; Tolosa, E.; Garrido, A.; Annesi, G.; Gagliardi, M.; Bozi, M.; Stefanis, L.; Ferreira, J.J.; Guedes, L.C.; Avenali, M.; Petrucci, S.; Clark, L.; Fedotova, E.Y.; Abramycheva, N.Y.; Alvarez, V.; Menéndez-González, M.; Maestre, SJ.; Gómez-Garre, P.; Mir, P.; Belin, A.C.; Ran, C.; Lin, C.H.; Kuo, M.C.; Crosiers, D.; Wszolek, Z.K.; Ross, O.A.; Jankovic, J.; Nishioka, K.; Funayama, M.; Clarimon, J.; Williams-Gray, C.H.; Camacho, M.; Cornejo-Olivas, M.; Torres-Ramirez, L.; Wu, YR.; Lee-Chen, G.J.; Morgadinho, A.; Pulkes, T.; Termsarasab, P.; Berg, D.; Kuhlenbäumer, G.; Kühn, A.A.; Borngräber, F.; de Michele, G.; De Rosa, A.; Zimprich, A.; Puschmann, A.; Mellick, GD.; Dorszewska, J.; Carr, J.; Ferese, R.; Gambardella, S.; Chase, B.; Markopoulou, K.; Satake, W.; Toda, T.; Rossi, M.; Merello, M.; Lynch, T.; Olszewska, D.A.; Lim, S.Y.; Ahmad-Annuar, A.; Tan, A.H.; Al-Mubarak, B.; Hanagasi, H.; Koziorowski, D.; Genç, G.; Aguiar, P.D.; Barkhuizen, M.; Pimentel, M.M.G.; Saunders-Pullman, R.; van de Warrenburg, B.; Bressman, S.; Toft, M.; Appel-Cresswell, S.; Lang, A.E.; Skorvanek, M.; Boon, A.J.W.; Krüger, R.; Sammler, E.M.; Tumas, V.; Zhang, B.R.; Garraux, G.; Chung, SJ.; Kim, Y.J.; Winkelmann, J.; Sue, C.M.; Tan, E.K.; Damásio, J.; Klivényi, P.; Kostic, V.S.; Arkadir, D.; Martikainen, M.; Borges, V.; Hertz, J.M.; Brighina, L.; Spitz, M.; Suchowersky, O.; Riess, O.; Das, P.; Mollenhauer, B.; Gatto, E.M.; Petersen, M.S.; Hattori, N.; Wu, R.M.; Illarioshkin, S.N.; Valente, E.M.; Aasly, J.O.; Aasly, A.; Alcalay, R.N.; Thaler, A.; Farrer, M.J.; Brockmann, K.; Corvol, J.C.; Klein, C., School of Medicine, Ertan, Fatoş Sibel (ORCID 0000-0003-1339-243X & YÖK ID 112829), Vollstedt, E.J.; Schaake, S.; Lohmann, K.; Padmanabhan, S.; Brice, A.; Lesage, S.; Tesson, C.; Vidailhet, M.; Wurster, I.; Hentati, F.; Mirelman, A.; Giladi, N.; Marder, K.; Waters, C.; Fahn, S.; Kasten, M.; Brüggemann, N.; Borsche, M.; Foroud, T.; Tolosa, E.; Garrido, A.; Annesi, G.; Gagliardi, M.; Bozi, M.; Stefanis, L.; Ferreira, J.J.; Guedes, L.C.; Avenali, M.; Petrucci, S.; Clark, L.; Fedotova, E.Y.; Abramycheva, N.Y.; Alvarez, V.; Menéndez-González, M.; Maestre, SJ.; Gómez-Garre, P.; Mir, P.; Belin, A.C.; Ran, C.; Lin, C.H.; Kuo, M.C.; Crosiers, D.; Wszolek, Z.K.; Ross, O.A.; Jankovic, J.; Nishioka, K.; Funayama, M.; Clarimon, J.; Williams-Gray, C.H.; Camacho, M.; Cornejo-Olivas, M.; Torres-Ramirez, L.; Wu, YR.; Lee-Chen, G.J.; Morgadinho, A.; Pulkes, T.; Termsarasab, P.; Berg, D.; Kuhlenbäumer, G.; Kühn, A.A.; Borngräber, F.; de Michele, G.; De Rosa, A.; Zimprich, A.; Puschmann, A.; Mellick, GD.; Dorszewska, J.; Carr, J.; Ferese, R.; Gambardella, S.; Chase, B.; Markopoulou, K.; Satake, W.; Toda, T.; Rossi, M.; Merello, M.; Lynch, T.; Olszewska, D.A.; Lim, S.Y.; Ahmad-Annuar, A.; Tan, A.H.; Al-Mubarak, B.; Hanagasi, H.; Koziorowski, D.; Genç, G.; Aguiar, P.D.; Barkhuizen, M.; Pimentel, M.M.G.; Saunders-Pullman, R.; van de Warrenburg, B.; Bressman, S.; Toft, M.; Appel-Cresswell, S.; Lang, A.E.; Skorvanek, M.; Boon, A.J.W.; Krüger, R.; Sammler, E.M.; Tumas, V.; Zhang, B.R.; Garraux, G.; Chung, SJ.; Kim, Y.J.; Winkelmann, J.; Sue, C.M.; Tan, E.K.; Damásio, J.; Klivényi, P.; Kostic, V.S.; Arkadir, D.; Martikainen, M.; Borges, V.; Hertz, J.M.; Brighina, L.; Spitz, M.; Suchowersky, O.; Riess, O.; Das, P.; Mollenhauer, B.; Gatto, E.M.; Petersen, M.S.; Hattori, N.; Wu, R.M.; Illarioshkin, S.N.; Valente, E.M.; Aasly, J.O.; Aasly, A.; Alcalay, R.N.; Thaler, A.; Farrer, M.J.; Brockmann, K.; Corvol, J.C.; Klein, C., and School of Medicine
- Abstract
Background: as gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited. Objective: the objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD. Methods: we conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype–phenotype relationships were analyzed. Results: we collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published. Conclusions: within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward, Open Access funding enabled and organized by Projekt DEAL. Funding text 1: Carolyn M. Sue: Intellectual Property Rights: WO 2015/157794 A1. Advisory Boards: AbbVie. Employment: Northern Sydney Local Health District, Sydney, Australia. Honoraria: The International Movement Disorder Society for course directorships and invited lectures. Patents: WO 2015/157794 A1. Grants: 2018–22 NHMRC Partnership grant (APP1151906); 2018–22 MRFF NHMRC Practitioner Fellowship (App1136800); 2020–2025 NHMRC Partnership grant (APP11179029); 2020–2023 NHMRC Ideas Grant (APP1184403); 2021–5 MRFF 2020 Genomics Health Futures Mission Grant (APP2007959); 2021–23 ASAP Project grant ; Funding text 2: Natalya Y. Abramycheva: Employment: Research Center of Neurology, Ministry of Science and Higher Education of the Russian Federation, Moscow, Russia. Grants: Russian Science Foundation ; Funding text 3: Rachel Saunders?Pullman: Employment: Icahn School of Medicine at Mount Sinai, New York City, New York, USA. Grants: NIH 1U01NS107016?01A1; Bigglesworth Family Foundation. Others: Bachmann?Strauss Chair ; Funding text 4: Zbigniew K. Wszolek: Advisory Boards: Vigil Neuroscience, Inc. Employment: Mayo Clinic, Jacksonville, Florida, USA. Grants: NIH/NIA and NIH/NINDS (1U19AG063911, FAIN: U19AG063911), Mayo Clinic Center for Regenerative Medicine, PI or co?PI on Biohaven Pharmaceuticals, Inc. (BHV4157?206 and BHV3241?301), Neuraly, Inc. (NLY01?PD?1), and Vigil Neuroscience, Inc. (VGL101?01.001 and VGL101?01.002). He also serves as the co?PI of the Mayo Clinic APDA Center for Advanced Research. Others: Donations from the Donald G. and Jodi P. Heeringa Family, the Haworth Family Professorship in Neurodegenerative Diseases fund, and The Albertson Parkinson's Research Foundation ; Funding text 5: Vladimir S. Kostic: Employment: School of Medicine, University of Belgrade, Serbia. Grants: Project No 175090 Ministry of Education, Science and Technological Development of Serbia. Project ??28 Serbian Academy of S
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- 2023
16. An inflated subpolar gyre blows life toward the northeastern Atlantic
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Hátún, H., Lohmann, K., Matei, D., Jungclaus, J.H., Pacariz, S., Bersch, M., Gislason, A., Ólafsson, J., and Reid, P.C.
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- 2016
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17. Treatabolome DB: linking gene and variants with treatments for rare diseases
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Corvó, A., Matalonga, L., Hernandez-Ferrer, C., Thompson, R., Carmody, L., Piscia, D., Macaya, A., Lochmuller, A., Manta, A., Fontaine, B., Vicart, S., de Sandre-Giovannoli, Annachiara, Desaphy, J., Altamura, C., Wahbi, K., Vigouroux, C., Zurek, B., Rheinard, C., Andrés, D. Gómez, Schon, K., Over, L., Brüggemann, N., Lohmann, K., Jennings, M. J., Synofzik, M., Riess, O., Yaou, R. Ben, Evangelista, T., Ratnaike, T., Bros-Facer, V., Gumus, G., Horvath, R., Chinnery, P., Graessner, H., Robinson, P., Atalaia, A., Lochmuller, H., Beltran, S., Bonne, Gisèle, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de ressources biologiques Tissus ADN Cellules [Hôpital de la Timone - APHM] (CRB TAC), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Centro Nacional de Analisis Genomico [Barcelona] (CNAG)
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[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,Actionable genes - Abstract
International audience; Although next-generation sequencing (NGS) has drastically improved diagnosis for patients with rare diseases (RDs), access to knowledge of effective treatments is still sparse and often unclear. The large number of RDs (>7,000 estimated) and their genetic heterogeneity make the identification of existing treatments difficult for clinicians. To facilitate treatment visibility, Solve-RD has promoted the development of the Treatabolome DB, a database to facilitate the identification of putative treatments linked to the causative gene or genetic variant/s.A relational database maps genetic variants, or genes, to treatments according to the information collected through systematic literature reviews (SLRs) produced by disease experts. To date, 8 SLRs have been completed on congenital myasthenic syndromes, laminopathies, muscular channelopathies, mitochondrial disorders (Leigh syndromes), hereditary peripheral neuropathies, genetic forms of Parkinson's disease, and metabolic myopathies. Currently, the Treatabolome consists of a dataset of more than 180 different treatments addressing more than 1000 unique variants and 77 genes, that can be interrogated through a web portal by clinicians and researchers. Gene and variant associated treatments can be programmatically queried with the API. The RD-Connect GPAP already incorporates a connection with the Treatabolome by benefitting from the open API of the platform.
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- 2023
18. Nomenclature of Genetic Movement Disorders
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Lange, L.M., Gonzalez-Latapi, P., Rajalingam, R., Tijssen, Marina A. J., Ebrahimi-Fakhari, D., Gabbert, C., Ganos, C., Ghosh, R., Kumar, K.R., Lang, A.E., Rossi, M., Veen, S. ter, Warrenburg, B.P.C. van de, Warner, T., Lohmann, K., Klein, C., and Marras, C.
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Dystonia ,Phenotype ,Neurology ,Parkinsonian Disorders ,Dystonic Disorders ,Humans ,movement disorders ,Parkinson Disease ,genetics ,nomenclature ,Neurology (clinical) ,Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3] - Abstract
Contains fulltext : 252096.pdf (Publisher’s version ) (Open Access) In 2016, the Movement Disorder Society Task Force for the Nomenclature of Genetic Movement Disorders presented a new system for naming genetically determined movement disorders and provided a criterion-based list of confirmed monogenic movement disorders. Since then, a substantial number of novel disease-causing genes have been described, which warrant classification using this system. In addition, with this update, we further refined the system and propose dissolving the imaging-based categories of Primary Familial Brain Calcification and Neurodegeneration with Brain Iron Accumulation and reclassifying these genetic conditions according to their predominant phenotype. We also introduce the novel category of Mixed Movement Disorders (MxMD), which includes conditions linked to multiple equally prominent movement disorder phenotypes. In this article, we present updated lists of newly confirmed monogenic causes of movement disorders. We found a total of 89 different newly identified genes that warrant a prefix based on our criteria; 6 genes for parkinsonism, 21 for dystonia, 38 for dominant and recessive ataxia, 5 for chorea, 7 for myoclonus, 13 for spastic paraplegia, 3 for paroxysmal movement disorders, and 6 for mixed movement disorder phenotypes; 10 genes were linked to combined phenotypes and have been assigned two new prefixes. The updated lists represent a resource for clinicians and researchers alike and they have also been published on the website of the Task Force for the Nomenclature of Genetic Movement Disorders on the homepage of the International Parkinson and Movement Disorder Society (https://www.movementdisorders.org/MDS/About/Committees--Other-Groups/MDS-Task-Forces/Task-Force-on-Nomenclature-in-Movement-Disorders.htm). © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society.
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- 2022
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19. Genetische Risikovarianten beim Parkinson-Syndrom und anderen Bewegungsstörungen
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Brockmann, K. and Lohmann, K.
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- 2017
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20. Treatabolome database: current state and new developments towards enhancing rare disease treatment visibility
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Atalaia, A, Ferrer, C Hernandez, Corvó, A, Matalonga, L, Thompson, R, Carmody, L, Piscia, D, Macaya, A, Lochmuller, A, Manta, A, Fontaine, B, Vicart, S, Desaphy, JF, Altamura, C, Wahbi, K, de Sandre-Giovannoli, Annachiara, Vigouroux, C, Zurek, B, Rheinard, C, Andrés, D Gómez, Schon, K, Over, L, Brüggemann, N, Lohmann, K, Jennings, MJ, Synofzik, M, Riess, O, Yaou, R Ben, Evangelista, T, Ratnaike, T, Facer, V Bros, Gumus, G, Horvath, R, Chinnery, P, Laurie, S, Graessner, H, Robinson, P, Lochmuller, H, Beltran, S, Bonne, Gisèle, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Max Planck Institute for Biogeochemistry (MPI-BGC), Max-Planck-Gesellschaft, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de ressources biologiques Tissus ADN Cellules [Hôpital de la Timone - APHM] (CRB TAC), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche Saint-Antoine (CRSA), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)
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[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,rare diseases ,Treatment delay - Abstract
International audience
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- 2022
21. Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update
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Lange, L.M., Gonzalez-Latapi, P., Rajalingam, R., Tijssen, Marina A. J., Ebrahimi-Fakhari, D., Gabbert, C., Ganos, C., Ghosh, R., Kumar, K.R., Lang, A.E., Rossi, M., Veen, S. ter, Warrenburg, B.P.C. van de, Warner, T., Lohmann, K., Klein, C., Marras, C., Lange, L.M., Gonzalez-Latapi, P., Rajalingam, R., Tijssen, Marina A. J., Ebrahimi-Fakhari, D., Gabbert, C., Ganos, C., Ghosh, R., Kumar, K.R., Lang, A.E., Rossi, M., Veen, S. ter, Warrenburg, B.P.C. van de, Warner, T., Lohmann, K., Klein, C., and Marras, C.
- Abstract
Contains fulltext : 252096.pdf (Publisher’s version ) (Open Access), In 2016, the Movement Disorder Society Task Force for the Nomenclature of Genetic Movement Disorders presented a new system for naming genetically determined movement disorders and provided a criterion-based list of confirmed monogenic movement disorders. Since then, a substantial number of novel disease-causing genes have been described, which warrant classification using this system. In addition, with this update, we further refined the system and propose dissolving the imaging-based categories of Primary Familial Brain Calcification and Neurodegeneration with Brain Iron Accumulation and reclassifying these genetic conditions according to their predominant phenotype. We also introduce the novel category of Mixed Movement Disorders (MxMD), which includes conditions linked to multiple equally prominent movement disorder phenotypes. In this article, we present updated lists of newly confirmed monogenic causes of movement disorders. We found a total of 89 different newly identified genes that warrant a prefix based on our criteria; 6 genes for parkinsonism, 21 for dystonia, 38 for dominant and recessive ataxia, 5 for chorea, 7 for myoclonus, 13 for spastic paraplegia, 3 for paroxysmal movement disorders, and 6 for mixed movement disorder phenotypes; 10 genes were linked to combined phenotypes and have been assigned two new prefixes. The updated lists represent a resource for clinicians and researchers alike and they have also been published on the website of the Task Force for the Nomenclature of Genetic Movement Disorders on the homepage of the International Parkinson and Movement Disorder Society (https://www.movementdisorders.org/MDS/About/Committees--Other-Groups/MDS-Task-Forces/Task-Force-on-Nomenclature-in-Movement-Disorders.htm). © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society.
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- 2022
22. Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation
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Krause, P., Brüggemann, N., Völzmann, S., Horn, A., Kupsch, A., Schneider, G.-H., Lohmann, K., and Kühn, A.
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- 2015
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23. Measurement and QCD analysis of double-differential inclusive jet cross sections in proton-proton collisions at root s=13 TeV
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Tumasyan, A., Adam, W., Rejkovic, J. W., Bergauer, T., Chatterjee, S., Damanakis, K., Dragicevic, M., Escalante Del Valle, Fruhwirth, A., Jeitler, R., Krammer, M., Lechner, N., Liko, L., Mikulec, D., Paulitsch, I., Pitters, P., Schieck, F. M., Schofbeck, J., Schwarz, R., Templ, D., Waltenberger, S., Wulz, W., C. -E., Chekhovsky, V., Litomin, A., Makarenko, V., Darwish, M. R., Wolf, De, Janssen, E. A., Kello, T., Lelek, T., Rejeb, Sfar, Van, Mechelen, Van, Putte, Van, Remortel, Blekman, N., Bols, F., D'Hondt, E. S., Delcourt, J., Faham, El, Lowette, H., Moortgat, S., Morton, S., Muller, A., Sahasransu, D., Tavernier, A. R., Van, Doninck, Beghin, W., Bilin, D., Clerbaux, B., Lentdecker, De, Favart, G., Grebenyuk, L., Kalsi, A., Lee, A. K., Mahdavikhorrami, K., Makarenko, M., Moureaux, I., Petre, L., Popov, L., Postiau, A., Starling, N., Thomas, E., L. V., Bemden, En, M. V., Velde, Er, Vanlaer, C., Cornelis, P., Dobur, T., Knolle, D., Lambrecht, J., Mestdach, L., Niedziela, G., Roskas, M., Samalan, C., Skovpen, A., Tytgat, K., Vermassen, M., Wezenbeek, B., Benecke, L., Bethani, A., Bruno, A., Bury, G., Caputo, F., David, C., Delaere, P., Donertas, C., Giammanco, I. S., Jaffel, A., Jain, K., Lemaitre, Sa., Mondal, V., Prisci, K., Aro, J., Taliercio, A., Teklishyn, M., Tran, T. T., Vischia, P., Wertz, S., Alves, G. A., Hensel, C., Moraes, A., Alda, Junior, W. L., Alves Gallo Pereira, Barroso Ferreira Filho, Br, M., Malbouisson, Ao, Carvalho, H., Chinellato, W., Costa, Da, E. M., Silveira, Da, G. G., De Jesus Damiao, Fonseca De Souza, Mora, Herrera, Mota, Amarilo, Mundim, K., Nogima, L., Rebello, Teles, Santoro, P., Silva Do Amaral, Sznajder, S. M., Thiel, A., Torres Da Silva De Araujo, Vilela, Pereira, Bernardes, A., Calligaris, C. A., Fern, L., ez Perez Tomei, Gregores, T. R., Lemos, E. M., Mercadante, D. S., Novaes, P. G., Padula, S. F., S, Ra, S., Aleks, Rov, Antchev, A., Hadjiiska, G., Iaydjiev, R., Misheva, P., Rodozov, M., Shopova, M., Sultanov, M., Dimitrov, G., Ivanov, A., Litov, T., Pavlov, L., Petkov, B., Petrov, P., Cheng, A., Javaid, T., Mittal, T., Yuan, M., Ahmad, L., Bauer, M., Dozen, G., Hu, C., Martins, Z., Wang, J., Yi, Y., Chapon, K., Chen, E., Chen, G. M., Chen, H. S., Iemmi, M., Kapoor, F., Leggat, A., Liao, D., Liu, H., Z. -A., Milosevic, V., Monti, F., Sharma, R., Tao, J., Thomas-Wilsker, J., Zhang, H., Zhao, J., Agapitos, A., An, Y., Ban, Y., Chen, C., Levin, A., Li, Q., Lyu, X., Mao, Y., Qian, S. J., Wang, D., Wang, Q., Xiao, J., Lu, M., You, Z., Gao, X., Okawa, H., Zhang, Y., Lin, Z., Xiao, M., Avila, C., Cabrera, A., Florez, C., Fraga, J., Mejia, Guisao, Ramirez, J., Ruiz, Alvarez, J. D., Salazar, Gonzalez, Giljanovic, C. A., Godinovic, D., Lelas, N., Puljak, D., Antunovic, I., Kovac, Z., Sculac, M., Brigljevic, T., Ferencek, V., Majumder, D., Roguljic, D., Starodumov, M., Susa, A., Attikis, T., Christoforou, A., Erodotou, K., Ioannou, E., Kole, A., Kolosova, G., Konstantinou, M., Mousa, S., Nicolaou, J., Ptochos, C., Razis, F., Rykaczewski, P. A., Saka, H., Finger, H., Finger, M., r. M., J, Kveton, A., Ayala, E., Carrera, Jarrin, Assran, E., Ellithi, Kamel, Mahmoud, A., Mohammed, M. A., Bhowmik, Y., Dewanjee, S., Ehataht, R. K., Kadastik, K., M. N., An, S., Nielsen, C., Pata, J., Raidal, M., Tani, L., Veelken, C., Eerola, P., Forthomme, L., Kirschenmann, H., Osterberg, K., Voutilainen, M., Bharthuar, S., Brucken, E., Garcia, F., Havukainen, J., Kim, M. S., Kinnunen, R., Lampen, T., Lassila-Perini, K., Lehti, S., Linden, T., Lotti, M., Martikainen, L., Myllymaki, M., Ott, J., Siikonen, H., Tuominen, E., Tuominiemi, J., Luukka, P., Petrow, H., Tuuva, T., Amendola, C., Besancon, M., Couderc, F., Dejardin, M., Denegri, D., Faure, J. L., Ferri, F., Ganjour, S., Gras, P., Hamel de Monchenault, Jarry, G., Lenzi, P., Locci, B., Malcles, E., J. R., Er, J., Rosowsky, A., Sahin, M. O., Savoy-Navarro, A., Titov, M., G. B., Yu, Ahuja, S., Beaudette, F., Bonanomi, M., Buchot, Perraguin, Busson, A., Cappati, P., Charlot, A., Davignon, C., Diab, O., Falmagne, B., Ghosh, G., Granier de Cassagnac, Hakimi, R., Kucher, A., Motta, I., Nguyen, J., Och, M., O, C., Paganini, P., Rembser, J., Salerno, R., Sarkar, U., Sauvan, J. B., Sirois, Y., Tarabini, A., Zabi, A., Zghiche, A., Agram, J. -L., Rea, J., Apparu, D., Bloch, D., Bourgatte, G., Brom, J. -M., Chabert, E. C., Collard, C., Darej, D., Fontaine, J. -C., Goerlach, U., Grimault, C., Bihan, Le, A. -C., Nibigira, E., Van, Hove, Asilar, P., Beauceron, E., Bernet, S., Boudoul, C., Camen, G., Carle, C., Chanon, A., Contardo, N., Depasse, D., Mamouni, El, Fay, H., Gascon, J., Gouzevitch, S., Ille, M., Laktineh, B., Lattaud, I. B., Lesauvage, H., Lethuillier, A., Mirabito, M., Perries, L., Shchablo, S., Sordini, K., Torterotot, V., Touquet, L., G. V., Donckt, Er, Viret, M., Lomidze, S., Toriashvili, I., Tsamalaidze, T., Botta, Z., Feld, V., Klein, L., Lipinski, K., Meuser, M., Pauls, D., Rowert, A., Schulz, N., Teroerde, J., Dodonova, M., Eliseev, A., Erdmann, D., Fackeldey, M., Fischer, P., Ghosh, B., Hebbeker, S., Hoepfner, T., Ivone, K., Mastrolorenzo, F., Merschmeyer, L., Meyer, M., Mocellin, A., Mondal, G., Mukherjee, S., Noll, S., Novak, D., Pook, A., Pozdnyakov, T., Rath, A., Reithler, Y., Roemer, H., Schmidt, J., Schuler, A., Sharma, S. C., Vigilante, A., Wiedenbeck, L., Zaleski, S., Dziwok, S., Flugge, C., Haj, Ahmad, Hlushchenko, W., Kress, O., Nowack, T., Pistone, A., Pooth, C., Roy, O., Sert, D., Stahl, H., Ziemons, A., Zotz, T., Aarup, Petersen, Aldaya, Martin, Asmuss, M., Baxter, P., Bayatmakou, S., Behnke, M., Bermudez, Martinez, Bhattacharya, A., Bin, Anuar, Borras, A. A., Brunner, K., Campbell, D., Cardini, A., Colombina, C., Consuegra, Rodriguez, Correia, Silva, Danilov, G., Silva, De, Didukh, M., Eckerlin, L., Eckstein, G., Eren, D., Estevez, Banos, Filatov, L. I., Gallo, O., Gao, E., Geiser, J., Giraldi, A., Grohsjean, A., Guthoff, A., Jafari, M., Jomhari, A., Jung, N. Z., Kasem, H., Kasemann, A., Kaveh, M., Kleinwort, H., Kruecker, C., Lange, D., Lidrych, W., Lipka, J., Lohmann, K., Maekelae, W., Mankel, T., Melzer-Pellmann, R., I. -A., Mendizabal, Morentin, Metwally, M., Meyer, J., Meyer, A. B., Mnich, M., Mussgiller, J., Otarid, A., Perez, Adan, Pitzl, D., Raspereza, D., Ribeiro, Lopes, Ruebenach, B., Saggio, J., Saibel, A., Savitskyi, A., Scham, M., Scheurer, M., Schnake, V., Schuetze, S., Schwanenberger, P., Shchedrolosiev, C., Sosa, Ricardo, Stafford, R. E., Tonon, D., Van De Klundert, Walsh, M., Walter, R., Wen, D., Wichmann, Y., Wiens, K., Wissing, L., Wuchterl, C., Zlebcik, S., Aggleton, R., Albrecht, R., Bein, S., Benato, S., Connor, L., Leo, De, Eich, K., Feindt, M., Froehlich, F., Garbers, A., Garutti, C., Gunnellini, E., Hajheidari, P., Haller, M., Hinzmann, J., Kasieczka, A., Klanner, G., Kogler, R., Kramer, R., Kutzner, T., Lange, V., Lange, J., Lobanov, T., Malara, A., Nigamova, A., Pena, Rodriguez, Rieger, K. J., Schleper, O., Schroeder, P., Schw, M., T, J., Sonneveld, J., Stadie, H., Steinbrueck, G., Tews, A., Zoi, I., Bechtel, J., Brommer, S., Burkart, M., Butz, E., Caspart, R., Chwalek, T., Boer, De, Dierlamm, W., Droll, A., Morabit, El, Faltermann, K., Giffels, N., Gosewisch, M., Gottmann, J. o., Hartmann, A., Heidecker, F., Husemann, C., Keicher, U., Koppenhoefer, P., Maier, R., Metzler, S., Mitra, M., Mueller, S., Neukum, Th., Nuernberg, M., Quast, A., Rabbertz, G., Rauser, K., Savoiu, J., Schnepf, D., Seith, M., Shvetsov, D., Simonis, I., Ulrich, H. J., Van Der Linden, Von, Cube, Wassmer, R. F., Weber, M., Wiel, M., Wolf, S., Wozniewski, R., Wunsch, S., Anagnostou, S., Daskalakis, G., Geralis, G., Kyriakis, T., Loukas, A., Stakia, D., Diamantopoulou, A., Karasavvas, M., Karathanasis, D., Kontaxakis, G., Koraka, P., Manousakis-Katsikakis, C. K., Panagiotou, A., Papavergou, A., Saoulidou, I., Theofilatos, N., Tziaferi, K., Vellidis, E., Vourliotis, K., Bakas, E., Kousouris, G., Papakrivopoulos, K., Tsipolitis, I., Zacharopoulou, G., Adamidis, A., Bestintzanos, K., Evangelou, I., Foudas, I., Gianneios, C., Katsoulis, P., Kokkas, P., Manthos, P., Papadopoulos, N., Strologas, I., Csanad, J., Farkas, M., Gadallah, K., Lokos, M. M. A., Major, S., P. M., Al, K., Mehta, A., Pasztor, G., Radl, A. J., Suranyi, O., Veres, G. I., Bartok, M., Bencze, G., Hajdu, C., Horvath, D., Sikler, F., Veszpremi, V., Czellar, S., Karancsi, J., Molnar, J., Szillasi, Z., Teyssier, D., Raics, P., Trocsanyi, Z. L., Ujvari, B., Csorgo, T., Nemes, F., Novak, T., Choudhury, S., Komaragiri, J. R., Kumar, D., Panwar, L., Tiwari, P. C., Bahinipati, S., Kar, C., Mal, P., Mishra, T., Muraleedharan Nair Bindhu, Nayak, V. K., Saha, A., Sur, P., Swain, N., Vats, S. K., Bansal, D., Beri, S., Bhatnagar, S. B., Chaudhary, V., Chauhan, G., Dhingra, S., Gupta, N., Kaur, R., Kaur, A., Kaur, M., Kumari, S., Meena, P., M. S., Eep, K., Singh, J. B., Virdi, A. K., Ahmed, A., Bhardwaj, A., Choudhary, B. C., Gola, M., Keshri, S., Kumar, A., Naimuddin, M., Priyanka, P., Ranjan, K., Shah, A., Bharti, M., Bhattacharya, R., Bhattacharya, S., Bhowmik, D., Dutta, S., Gomber, B., Maity, M., 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., Jha, V., Kumar, V., Mishra, D. K., Naskar, K., Netrakanti, P. K., Pant, L. M., Shukla, P., Aziz, T., Dugad, S., Kumar, M., Banerjee, S., Chudasama, R., Guchait, M., Karmakar, S., Kumar, S., Majumder, G., Mazumdar, K., Alpana, K., Dube, S., Kansal, B., Laha, A., P, Ey, Rane, S., Rastogi, A., Bakhshiansohi, S., Khazaie, H., Zeinali, E., Chenarani, M., Etesami, S., Khakzad, S. M., Mohammadi, Najafabadi, Grunewald, M., Abbrescia, M., Aly, M., Aruta, R., Colaleo, C., Creanza, A., Filippis, De, Palma, De, Florio, Di, Pilato, Di, Elmetenawee, A., Fiore, W., Gelmi, L., Gul, A., Iaselli, M., Ince, G., Lezki, M., Maggi, S., Maggi, G., Margjeka, M., Mastrapasqua, I., My, V., Nuzzo, S., Pellecchia, S., Pompili, A., Pugliese, A., Ramos, G., Ranieri, D., Selvaggi, A., Silvestris, G., Simone, L., Venditti, F. M., Verwilligen, R., Abbiendi, P., Battilana, G., Bonacorsi, C., Borgonovi, D., Brigliadori, L., Campanini, L., Capiluppi, R., Castro, P., Cavallo, A., Cuffiani, F. R., Dallavalle, M., Diotalevi, G. M., Fabbri, T., Fanfani, F., Giacomelli, A., Giommi, P., Gr, L., I, C., Guiducci, L., Meo, Lo, Lunerti, S., Marcellini, L., Masetti, S., Navarria, G., Perrotta, F. L., Primavera, A., Rossi, F., Rovelli, A. M., Siroli, T., Albergo, G. P., Costa, S., Mattia, Di, Potenza, A., Tricomi, R., Tuve, A., Barbagli, C., Cassese, G., Ceccarelli, A., Ciulli, R., Civinini, V., D'Aless, C., Ro, R., Focardi, E., Latino, G., 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., Boldrini, G., Brivio, F., Cetorelli, F., Guio, De, Dinardo, F., Dini, M. E., Gennai, P., Ghezzi, S., Govoni, A., Guzzi, P., Lucchini, L., Malberti, M. T., Malvezzi, M., Massironi, S., Menasce, A., Moroni, D., Paganoni, L., Pedrini, M., Pinolini, D., Ragazzi, B. S., Redaelli, S., Tabarelli de Fatis, Valsecchi, T., Zuolo, D., Buontempo, D., Carnevali, S., Cavallo, F., Iorio, De, Fabozzi, A., Iorio, F., Lista, A. O. 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H., Trembath-Reichert, D., Vetens, S., Cms, Collaboration, Damarseçkin, Serdal, CMS Collaboration, Institut de Recherches sur les lois Fondamentales de l'Univers (IRFU), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Laboratoire Leprince-Ringuet (LLR), Centre National de la Recherche Scientifique (CNRS)-École polytechnique (X)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3), Institut Pluridisciplinaire Hubert Curien (IPHC), Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA)), Institut de Physique des 2 Infinis de Lyon (IP2I Lyon), Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'Annecy de Physique des Particules (LAPP), Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry])-Centre National de la Recherche Scientifique (CNRS), CMS, Tumasyan, A, Adam, W, Andrejkovic, JW, Bergauer, T, Chatterjee, S, Damanakis, K, Dragicevic, M, Del Valle, AE, Fruhwirth, R, Jeitler, M, Krammer, N, Lechner, L, Liko, D, Mikulec, I, Paulitsch, P, Pitters, FM, Schieck, J, Schofbeck, R, Schwarz, D, Templ, S, Waltenberger, W, Wulz, CE, Chekhovsky, V, Litomin, A, Makarenko, V, Darwish, MR, De Wolf, EA, Janssen, T, Kello, T, Lelek, A, Sfar, HR, Van Mechelen, P, Van Putte, S, Van Remortel, N, Blekman, F, Bols, ES, D'Hondt, J, Delcourt, M, El Faham, H, Lowette, S, Moortgat, S, Morton, A, Muller, D, Sahasransu, AR, Tavernier, S, Van Doninck, W, Beghin, D, Bilin, B, Clerbaux, B, De Lentdecker, G, Favart, L, 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Gilbert, A, Gunter, T, Hahn, KA, Liu, Y, Odell, N, Schmitt, MH, Velasco, M, Band, R, Bucci, R, Cremonesi, M, Das, A, Dev, N, Goldouzian, R, Hildreth, M, Anampa, KH, Jessop, C, Lannon, K, Lawrence, J, Loukas, N, Lutton, D, Marinelli, N, Mcalister, I, McCauley, T, Mcgrady, C, Mohrman, K, Moore, C, Musienko, Y, Ruchti, R, Siddireddy, P, Townsend, A, Wayne, M, Wightman, A, Zarucki, M, Zygala, L, Bylsma, B, Cardwell, B, Durkin, LS, Francis, B, Hill, C, Ornelas, MN, Wei, K, Winer, BL, Yates, BR, Addesa, FM, Bonham, B, Das, P, Dezoort, G, Elmer, P, Frankenthal, A, Greenberg, B, Haubrich, N, Higginbotham, S, Kalogeropoulos, A, Kopp, G, Kwan, S, Lange, D, Marlow, D, Mei, K, Ojalvo, I, Olsen, J, Stickland, D, Tully, C, Norberg, S, Bakshi, AS, Barnes, VE, Chawla, R, Das, S, Gutay, L, Jones, M, Jung, AW, Karmarkar, S, Kondratyev, D, Liu, M, Negro, G, Neumeister, N, Paspalaki, G, Piperov, S, Purohit, A, Schulte, JF, Stojanovic, M, Thieman, J, Wang, F, Xiao, R, Xie, W, Dolen, J, Parashar, N, Baty, 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Lyon-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Physics, Elementary Particle Physics, Faculty of Sciences and Bioengineering Sciences, Vriendenkring VUB, Universidad de Cantabria, Tumasyan A., Adam W., Andrejkovic J., Bergauer T., Chatterjee S., Damanakis K., Dragicevic M., Escalante Del Valle A., Frühwirth R., Jeitler M., et al., SCOAP, European Commission, European Research Council, Principado de Asturias, Ministerio de Economía y Competitividad (España), Yerevan Physics Institute, Institut für Hochenergiephysik, Institute for Nuclear Problems, Universiteit Antwerpen, Vrije Universiteit Brussel, Université Libre de Bruxelles, Ghent University, Université Catholique de Louvain, Centro Brasileiro de Pesquisas Fisicas, Universidade do Estado do Rio de Janeiro (UERJ), Universidade Estadual Paulista (UNESP), Bulgarian Academy of Sciences, University of Sofia, Beihang University, Tsinghua 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Madhu, A, Johnson, K, Baarmand, M, Kumar Verma, R, Adams, M, Becerril Gonzalez, H, Gerber, C, Hangal, D, Hofman, D, Merrit, A, Tonjes, M, Gandrajula, R, Koseyan, O, Merlo, J, Gritsan, A, Vami, T, Baldenegro Barrera, C, Tapia Takaki, J, Eno, S, Hadley, N, Kellogg, R, Mignerey, A, Cali, I, Gomez Ceballos, G, Stephans, G, Chatterjee, R, Wadud, M, Claes, D, Siado, J, Snow, G, Zecchinelli, A, Mclean, C, Morse, D, Hahn, K, Schmitt, M, Hurtado Anampa, K, Mccauley, T, Zygala, B, Durkin, L, Nunez Ornelas, M, Winer, B, Yates, B, Addesa, F, Bakshi, A, Barnes, V, Jung, A, Schulte, J, Ecklund, K, Geurts, F, Padley, B, Stahl Leiton, A, Dulemba, J, Chou, J, Thayil, S, Delannoy, A, Arenton, M, Perez Lara, C, Madhusudanan Sreekala, J, Smith, W, Sağır, Sinan, Belforte, S., Candelise, V., Casarsa, M., Cossutti, F., DA ROLD, A., DELLA RICCA, G., Sorrentino, G., Vazzoler, F., and ET AL (the CMS, Collaboration)
- Subjects
13000 GeV-cms ,Temel Bilimler (SCI) ,parton: distribution function ,transverse momentum [jet] ,PARTICLE PHYSICS ,LARGE HADRON COLLIDER ,CMS ,Physics, Particles & Fields ,rapidity dependence ,Hadron-Hadron Scattering ,Jet Physics ,effective field theory ,strong interaction: coupling constant ,scattering [p p] ,PROGRAM ,jet, production ,High energy physics ,Experimental particle physics ,LHC ,p p: scattering ,p p: colliding beams ,B: decay ,tau: hadronic decay ,interaction: gauge ,interaction: model ,transverse momentum: missing-energy ,new physics: search for ,mass spectrum: transverse ,black hole: quantum ,vector boson: mass ,W': leptonic decay ,sensitivity ,leptoquark: coupling ,CERN LHC Coll ,leptoquark: mass: lower limit ,anomaly ,channel cross section: upper limit ,Higgs ,Nuclear Experiment ,протон-протонные столкновения ,parton, distribution function ,двойные дифференциальные инклюзивные струи ,Physics ,QUARK ,perturbation theory: higher-order ,contact interaction ,PHYSICS, NUCLEAR ,2 [higher-order] ,higher-order, 2 ,higher-order, 1 ,track data analysis: jet ,Physical Sciences ,hadroproduction [jet] ,colliding beams [p p] ,distribution function [parton] ,coupling constant [strong interaction] ,1 [higher-order] ,p p, scattering ,strong interaction, coupling constant ,114 Physical sciences ,quark ,phase space ,FİZİK, NÜKLEER ,Z0, mass ,quantum chromodynamics ,strong coupling ,TeV ,ddc:530 ,0206 Quantum Physics ,Science & Technology ,higher-order [perturbation theory] ,jet: rapidity ,ATLAS, детектор ,Большой адронный коллайдер ,GeV ,jet: transverse momentum ,transverse momentum dependence ,High Energy Physics - Experiment ,High Energy Physics - Experiment (hep-ex) ,SINGLET ,[PHYS.HEXP]Physics [physics]/High Energy Physics - Experiment [hep-ex] ,jet [track data analysis] ,0105 Mathematical Physics ,Temel Bilimler ,Wilson ,higher-order: 2 ,higher-order: 1 ,jet, rapidity ,Nuclear & Particles Physics ,Nükleer ve Yüksek Enerji Fiziği ,Natural Sciences (SCI) ,rapidity [jet] ,0202 Atomic, Molecular, Nuclear, Particle and Plasma Physics ,Natural Sciences ,Particle Physics - Experiment ,perturbation theory [quantum chromodynamics] ,Nuclear and High Energy Physics ,data analysis method ,jet, transverse momentum ,FOS: Physical sciences ,Fizik ,PARTON DENSITIES ,COMPUTATION ,differential cross section: measured ,PHYSICS ,measured [differential cross section] ,quantum chromodynamics: perturbation theory ,hep-ex ,High Energy Physics::Phenomenology ,3-LOOP SPLITTING FUNCTIONS ,jet: hadroproduction ,EVOLUTION ,Physics and Astronomy ,Fizik Bilimleri ,High Energy Physics::Experiment ,experimental results - Abstract
A measurement of the inclusive jet production in proton-proton collisions at the LHC at √s = 13 TeV is presented. The double-differential cross sections are measured as a function of the jet transverse momentum pT and the absolute jet rapidity |y|. The anti-kT clustering algorithm is used with distance parameter of 0.4 (0.7) in a phase space region with jet pT from 97 GeV up to 3.1 TeV and |y| < 2.0. Data collected with the CMS detector are used, corresponding to an integrated luminosity of 36.3 fb−1 (33.5 fb−1). The measurement is used in a comprehensive QCD analysis at next-to-next-to-leading order, which results in significant improvement in the accuracy of the parton distributions in the proton. Simultaneously, the value of the strong coupling constant at the Z boson mass is extracted as αS(mZ) = 0.1170±0.0019. For the first time, these data are used in a standard model effective field theory analysis at next-to-leading order, where parton distributions and the QCD parameters are extracted simultaneously with imposed constraints on the Wilson coefficient c1 of 4-quark contact interactions., Individuals have received support from the Marie-Curie programme and the European Research Council and Horizon 2020 Grant, contract Nos. 675440, 724704, 752730, 758316, 765710, 824093, 884104, and COST Action CA16108 (European Union); the Leventis Foundation; the Alfred P. Sloan Foundation; the Alexander von Humboldt Foundation;the Belgian Federal Science Policy Office; the Fonds pour la Formation à la Recherche dans l’Industrie et dans l’Agriculture (FRIA-Belgium); the Agentschap voor Innovatie door Wetenschap en Technologie (IWT-Belgium); the F.R.S.-FNRS and FWO (Belgium) under the “Excellence of Science — EOS” — be.h project n. 30820817; the Beijing Municipal Science & Technology Commission, No. Z191100007219010; the Ministry of Education, Youth and Sports (MEYS) of the Czech Republic; the Deutsche Forschungsgemeinschaft (DFG), under Germany’s Excellence Strategy — EXC 2121 “Quantum Universe” — 390833306, and under project number 400140256 - GRK2497; the Lendület (“Momentum”) Programme and the János Bolyai Research Scholarship of the Hungarian Academy of Sciences, the New National Excellence Program ÚNKP, the NKFIA research grants 123842, 123959, 124845, 124850, 125105, 128713, 128786, and 129058 (Hungary); the Council of Science and Industrial Research, India; the Latvian Council of Science; the Ministry of Science and Higher Education and the National Science Center, contracts Opus 2014/15/B/ST2/03998 and 2015/19/B/ST2/02861 (Poland); the Fundação para a Ciência e a Tecnologia, grant CEECIND/01334/2018 (Portugal); the National Priorities Research Program by Qatar National Research Fund; the Ministry of Science and Higher Education, projects no. 14.W03.31.0026 and no. FSWW-2020-0008, and the Russian Foundation for Basic Research, project No.19-42-703014 (Russia); the Programa Estatal de Fomento de la Investigación Científica y Técnica de Excelencia María de Maeztu, grant MDM-2015-0509 and the Programa Severo Ochoa del Principado de Asturias; the Stavros Niarchos Foundation (Greece); the Rachadapisek Sompot Fund for Postdoctoral Fellowship, Chulalongkorn University and the Chulalongkorn Academic into Its 2nd Century Project Advancement Project (Thailand); the Kavli Foundation; the Nvidia Corporation; the SuperMicro Corporation; the Welch Foundation, contract C-1845; and the Weston Havens Foundation (U.S.A.)., Article funded by SCOAP3.
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- 2022
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- View/download PDF
24. Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (European Journal of Human Genetics, (2021), 29, 9, (1332-1336), 10.1038/s41431-021-00901-1)
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Schule R., Timmann D., Erasmus C. E., Reichbauer J., Wayand M., Baets J., Balicza P., Chinnery P., Durr A., Haack T., Hengel H., Horvath R., Houlden H., Kamsteeg E. -J., Kamsteeg C., Lohmann K., Macaya A., Marce-Grau A., Maver A., Molnar J., Munchau A., Peterlin B., Riess O., Schols L., Stevanin G., Synofzik M., Timmerman V., van de Warrenburg B., van Os N., Vandrovcova J., Wilke C., Bevot A., Zuchner S., Beltran S., Laurie S., Matalonga L., Graessner H., Zurek B., Ellwanger K., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Heutink P., Brunner H., Scheffer H., Hoogerbrugge N., Hoischen A., 't Hoen P. A. C., Vissers L. E. L. M., Gilissen C., Steyaert W., Sablauskas K., de Voer R. M., Janssen E., de Boer E., Steehouwer M., Yaldiz B., Kleefstra T., Brookes A. J., Veal C., Gibson S., Wadsley M., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Topf A., Straub V., Bettolo C. M., Specht S., Clayton-Smith J., Banka S., Alexander E., Jackson A., Faivre L., Thauvin C., Vitobello A., Denomme-Pichon A. -S., Duffourd Y., Tisserant E., Bruel A. -L., Peyron C., Pelissier A., Gut I. G., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Garcia C., Fernandez-Callejo M., Hernandez C., Pico D., Paramonov I., Lochmuller H., Gumus G., Bros-Facer V., Rath A., Hanauer M., Olry A., Lagorce D., Havrylenko S., Izem K., Rigour F., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Bonne G., Evangelista T., Allamand V., Nelson I., Yaou R. B., Metay C., Eymard B., Cohen E., Atalaia A., Stojkovic T., Macek M., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Havlovicova M., Kremlik V., Parkinson H., Keane T., Spalding D., Senf A., Robinson P., Danis D., Robert G., Costa A., Patch C., Hanna M., Reilly M., Muntoni F., Zaharieva I., Sarkozy A., de Jonghe P., Nigro V., Banfi S., Torella A., Musacchia F., Piluso G., Ferlini A., Selvatici R., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Velde J. K., van der Vries G., Neerincx P. B., Roelofs-Prins D., Kohler S., Metcalfe A., Verloes A., Drunat S., Rooryck C., Trimouille A., Castello R., Morleo M., Pinelli M., Varavallo A., De la Paz M. P., Sanchez E. B., Martin E. L., Delgado B. M., de la Rosa F. J. A. G., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Renieri A., Benetti E., Molnar M. J., Herzog R., Pauly M., Osorio A. N., de Benito D. N., Thompson R., Polavarapu K., Beeson D., Cossins J., Cruz P. M. R., Hackman P., Johari M., Savarese M., Udd B., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Schrock E., Rump A., Schule, R., Timmann, D., Erasmus, C. E., Reichbauer, J., Wayand, M., Baets, J., Balicza, P., Chinnery, P., Durr, A., Haack, T., Hengel, H., Horvath, R., Houlden, H., Kamsteeg, E. -J., Kamsteeg, C., Lohmann, K., Macaya, A., Marce-Grau, A., Maver, A., Molnar, J., Munchau, A., Peterlin, B., Riess, O., Schols, L., Stevanin, G., Synofzik, M., Timmerman, V., van de Warrenburg, B., van Os, N., Vandrovcova, J., Wilke, C., Bevot, A., Zuchner, S., Beltran, S., Laurie, S., Matalonga, L., Graessner, H., Zurek, B., Ellwanger, K., Ossowski, S., Demidov, G., Sturm, M., Schulze-Hentrich, J. M., Heutink, P., Brunner, H., Scheffer, H., Hoogerbrugge, N., Hoischen, A., 't Hoen, P. A. C., Vissers, L. E. L. M., Gilissen, C., Steyaert, W., Sablauskas, K., de Voer, R. M., Janssen, E., de Boer, E., Steehouwer, M., Yaldiz, B., Kleefstra, T., Brookes, A. J., Veal, C., Gibson, S., Wadsley, M., Mehtarizadeh, M., Riaz, U., Warren, G., Dizjikan, F. Y., Shorter, T., Topf, A., Straub, V., Bettolo, C. M., Specht, S., Clayton-Smith, J., Banka, S., Alexander, E., Jackson, A., Faivre, L., Thauvin, C., Vitobello, A., Denomme-Pichon, A. -S., Duffourd, Y., Tisserant, E., Bruel, A. -L., Peyron, C., Pelissier, A., Gut, I. G., Piscia, D., Papakonstantinou, A., Bullich, G., Corvo, A., Garcia, C., Fernandez-Callejo, M., Hernandez, C., Pico, D., Paramonov, I., Lochmuller, H., Gumus, G., Bros-Facer, V., Rath, A., Hanauer, M., Olry, A., Lagorce, D., Havrylenko, S., Izem, K., Rigour, F., Davoine, C. -S., Guillot-Noel, L., Heinzmann, A., Coarelli, G., Bonne, G., Evangelista, T., Allamand, V., Nelson, I., Yaou, R. B., Metay, C., Eymard, B., Cohen, E., Atalaia, A., Stojkovic, T., Macek, M., Turnovec, M., Thomasova, D., Kremlikova, R. P., Frankova, V., Havlovicova, M., Kremlik, V., Parkinson, H., Keane, T., Spalding, D., Senf, A., Robinson, P., Danis, D., Robert, G., Costa, A., Patch, C., Hanna, M., Reilly, M., Muntoni, F., Zaharieva, I., Sarkozy, A., de Jonghe, P., Nigro, V., Banfi, S., Torella, A., Musacchia, F., Piluso, G., Ferlini, A., Selvatici, R., Rossi, R., Neri, M., Aretz, S., Spier, I., Sommer, A. K., Peters, S., Oliveira, C., Pelaez, J. G., Matos, A. R., Jose, C. S., Ferreira, M., Gullo, I., Fernandes, S., Garrido, L., Ferreira, P., Carneiro, F., Swertz, M. A., Johansson, L., van der Velde, J. K., van der Vries, G., Neerincx, P. B., Roelofs-Prins, D., Kohler, S., Metcalfe, A., Verloes, A., Drunat, S., Rooryck, C., Trimouille, A., Castello, R., Morleo, M., Pinelli, M., Varavallo, A., De la Paz, M. P., Sanchez, E. B., Martin, E. L., Delgado, B. M., de la Rosa, F. J. A. G., Ciolfi, A., Dallapiccola, B., Pizzi, S., Radio, F. C., Tartaglia, M., Renieri, A., Benetti, E., Molnar, M. J., Herzog, R., Pauly, M., Osorio, A. N., de Benito, D. N., Thompson, R., Polavarapu, K., Beeson, D., Cossins, J., Cruz, P. M. R., Hackman, P., Johari, M., Savarese, M., Udd, B., Capella, G., Valle, L., Holinski-Feder, E., Laner, A., Steinke-Lange, V., Schrock, E., and Rump, A.
- Abstract
In the original publication of the article, consortium author lists were missing in the article. The details are given below
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- 2021
25. Therapie kondylomatöser Erkrankungen — Podophyllin vs. Podophyllotoxin —
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Lohmann, K., Winter, Helmut, editor, and Bellmann, K.-P., editor
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- 1995
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26. Using global team science to identify genetic parkinson's disease worldwide
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Vollstedt, E, Kasten, M, Klein, C, Aasly, J, Adler, C, Ahmad-Annuar, A, Albanese, A, Alcalay, R, Al-Mubarak, B, Alvarez, V, Andree-Munoz, B, Annesi, G, Appel-Cresswell, S, Arkadir, D, Armasu, S, Barber, T, Bardien, S, Barkhuizen, M, Barrett, M, Basak, A, Beach, T, Benitez, B, Berg, D, Bhatia, K, Binkofski, F, Blauwendraat, C, Bonifati, V, Borges, V, Bozi, M, Brice, A, Brighina, L, Brockmann, K, Brucke, T, Bruggemann, N, Camacho, M, Cardoso, F, Belin, A, Carr, J, Chan, P, Chang-Castello, J, Chase, B, Chen-Plotkin, A, Ju Chung, S, Cilia, R, Clarimon, J, Clark, L, Cornejo-Olivas, M, Corvol, J, Cosentino, C, Cras, P, Crosiers, D, Damasio, J, Das, P, de Carvalho Aguiar, P, De Michele, G, De Rosa, A, Dieguez, E, Dorszewska, J, Erer, S, Ertan, S, Farrer, M, Fedotova, E, Ferese, R, Ferrarese, C, Ferraz, H, Fiala, O, Foroud, T, Friedman, A, Frigerio, R, Funayama, M, Gambardella, S, Garraux, G, Gatto, E, Genc, G, Giladi, N, Goldwurm, S, Gomez-Esteban, J, Gomez-Garre, P, Gorostidi, A, Grosset, D, Hanagasi, H, Hardy, J, Hassan, A, Hattori, N, Hauser, R, Hedera, P, Hentati, F, Hertz, J, Holton, J, Houlden, H, Hutz, M, Ikeuchi, T, Illarioshkin, S, Inca-Martinez, M, Infante, J, Jankovic, J, Jeon, B, Jesus, S, Jimenez-Del-Rio, M, Kaasinen, V, Kataoka, H, Kawakami, H, Kim, Y, Klivenyi, P, Koks, S, Konig, I, Kostic, V, Koziorowski, D, Kruger, R, Krygowska-Wajs, A, Kulisevsky, J, Lai, D, Lang, A, Ledoux, M, Lesage, S, Lim, S, Lin, C, Lohmann, K, Lopera, F, Lopez, G, Lu, C, Lynch, T, Machaczka, M, Madoev, H, Magalhaes, M, Majamaa, K, Maraganore, D, Marder, K, Markopoulou, K, Martikainen, M, Mata, I, Mazzetti, P, Mellick, G, Menendez-Gonzalez, M, Micheli, F, Mirelman, A, Mir, P, Morino, H, Morris, H, Munhoz, R, Naito, A, Olszewska, D, Ozelius, L, Padmanabhan, S, Paisan-Ruiz, C, Payami, H, Peluso, S, Petkovic, S, Petrucci, S, Pezzoli, G, Pimentel, M, Pirker, W, Pramstaller, P, Pulkes, T, Puschmann, A, Quattrone, A, Raggio, V, Ransmayr, G, Rieder, C, Riess, O, Rodriguez-Porcel, F, Rogaeva, E, Ross, O, Ruiz-Martinez, J, Sammler, E, San Luciano, M, Satake, W, Saunders-Pullman, R, Sazci, A, Scherzer, C, Schrag, A, Schumacher-Schuh, A, Sharma, M, Sidransky, E, Singleton, A, Petersen, M, Smolders, S, Spitz, M, Stefanis, L, Struhal, W, Sue, C, Swan, M, Swanberg, M, Taba, P, Taipa, R, Tan, M, Tan, A, Tan, E, Tang, B, Tayebi, N, Thaler, A, Thomas, A, Toda, T, Toft, M, Torres, L, Tumas, V, Valente, E, Van Broeckhoven, C, Vecsei, L, Velez-Pardo, C, Vidailhet, M, Warner, T, Williams-Gray, C, Winkelmann, J, Woitalla, D, Wood, N, Wszolek, Z, Wu, R, Wu, Y, Xie, T, Yoshino, H, Zhang, B, Zimprich, A, Vollstedt E. -J., Kasten M., Klein C., Aasly J., Adler C., Ahmad-Annuar A., Albanese A., Alcalay R. N., Al-Mubarak B., Alvarez V., Andree-Munoz B., Annesi G., Appel-Cresswell S., Arkadir D., Armasu S., Barber T. R., Bardien S., Barkhuizen M., Barrett M. J., Basak A. N., Beach T., Benitez B. A., Berg D., Bhatia K., Binkofski F., Blauwendraat C., Bonifati V., Borges V., Bozi M., Brice A., Brighina L., Brockmann K., Brucke T., Bruggemann N., Camacho M., Cardoso F., Belin A. C., Carr J., Chan P., Chang-Castello J., Chase B., Chen-Plotkin A., Ju Chung S., Cilia R., Clarimon J., Clark L., Cornejo-Olivas M., Corvol J. -C., Cosentino C., Cras P., Crosiers D., Damasio J., Das P., de Carvalho Aguiar P., De Michele G., De Rosa A., Dieguez E., Dorszewska J., Erer S., Ertan S., Farrer M., Fedotova E., Ferese R., Ferrarese C., Ferraz H., Fiala O., Foroud T., Friedman A., Frigerio R., Funayama M., Gambardella S., Garraux G., Gatto E. M., Genc G., Giladi N., Goldwurm S., Gomez-Esteban J. C., Gomez-Garre P., Gorostidi A., Grosset D., Hanagasi H., Hardy J., Hassan A., Hattori N., Hauser R. A., Hedera P., Hentati F., Hertz J. M., Holton J. L., Houlden H., Hutz M. H., Ikeuchi T., Illarioshkin S., Inca-Martinez M., Infante J., Jankovic J., Jeon B. S., Jesus S., Jimenez-Del-Rio M., Kaasinen V., Kataoka H., Kawakami H., Kim Y. J., Klivenyi P., Koks S., Konig I. R., Kostic V., Koziorowski D., Kruger R., Krygowska-Wajs A., Kulisevsky J., Lai D., Lang A., LeDoux M., Lesage S., Lim S. -Y., Lin C. -H., Lohmann K., Lopera F., Lopez G., Lu C. -S., Lynch T., Machaczka M., Madoev H., Magalhaes M., Majamaa K., Maraganore D., Marder K., Markopoulou K., Martikainen M. H., Mata I., Mazzetti P., Mellick G., Menendez-Gonzalez M., Micheli F., Mirelman A., Mir P., Morino H., Morris H., Munhoz R. P., Naito A., Olszewska D. A., Ozelius L. J., Padmanabhan S., Paisan-Ruiz C., Payami H., Peluso S., Petkovic S., Petrucci S., Pezzoli G., Pimentel M., Pirker W., Pramstaller P. P., Pulkes T., Puschmann A., Quattrone A., Raggio V., Ransmayr G., Rieder C., Riess O., Rodriguez-Porcel F., Rogaeva E., Ross O. A., Ruiz-Martinez J., Sammler E., San Luciano M., Satake W., Saunders-Pullman R., Sazci A., Scherzer C., Schrag A., Schumacher-Schuh A., Sharma M., Sidransky E., Singleton A. B., Petersen M. S., Smolders S., Spitz M., Stefanis L., Struhal W., Sue C. M., Swan M., Swanberg M., Taba P., Taipa R., Tan M., Tan A. H., Tan E. -K., Tang B., Tayebi N., Thaler A., Thomas A., Toda T., Toft M., Torres L., Tumas V., Valente E. M., Van Broeckhoven C., Vecsei L., Velez-Pardo C., Vidailhet M., Warner T. T., Williams-Gray C. H., Winkelmann J., Woitalla D., Wood N. W., Wszolek Z. K., Wu R. -M., Wu Y. -R., Xie T., Yoshino H., Zhang B., Zimprich A., Vollstedt, E, Kasten, M, Klein, C, Aasly, J, Adler, C, Ahmad-Annuar, A, Albanese, A, Alcalay, R, Al-Mubarak, B, Alvarez, V, Andree-Munoz, B, Annesi, G, Appel-Cresswell, S, Arkadir, D, Armasu, S, Barber, T, Bardien, S, Barkhuizen, M, Barrett, M, Basak, A, Beach, T, Benitez, B, Berg, D, Bhatia, K, Binkofski, F, Blauwendraat, C, Bonifati, V, Borges, V, Bozi, M, Brice, A, Brighina, L, Brockmann, K, Brucke, T, Bruggemann, N, Camacho, M, Cardoso, F, Belin, A, Carr, J, Chan, P, Chang-Castello, J, Chase, B, Chen-Plotkin, A, Ju Chung, S, Cilia, R, Clarimon, J, Clark, L, Cornejo-Olivas, M, Corvol, J, Cosentino, C, Cras, P, Crosiers, D, Damasio, J, Das, P, de Carvalho Aguiar, P, De Michele, G, De Rosa, A, Dieguez, E, Dorszewska, J, Erer, S, Ertan, S, Farrer, M, Fedotova, E, Ferese, R, Ferrarese, C, Ferraz, H, Fiala, O, Foroud, T, Friedman, A, Frigerio, R, Funayama, M, Gambardella, S, Garraux, G, Gatto, E, Genc, G, Giladi, N, Goldwurm, S, Gomez-Esteban, J, Gomez-Garre, P, Gorostidi, A, Grosset, D, Hanagasi, H, Hardy, J, Hassan, A, Hattori, N, Hauser, R, Hedera, P, Hentati, F, Hertz, J, Holton, J, Houlden, H, Hutz, M, Ikeuchi, T, Illarioshkin, S, Inca-Martinez, M, Infante, J, Jankovic, J, Jeon, B, Jesus, S, Jimenez-Del-Rio, M, Kaasinen, V, Kataoka, H, Kawakami, H, Kim, Y, Klivenyi, P, Koks, S, Konig, I, Kostic, V, Koziorowski, D, Kruger, R, Krygowska-Wajs, A, Kulisevsky, J, Lai, D, Lang, A, Ledoux, M, Lesage, S, Lim, S, Lin, C, Lohmann, K, Lopera, F, Lopez, G, Lu, C, Lynch, T, Machaczka, M, Madoev, H, Magalhaes, M, Majamaa, K, Maraganore, D, Marder, K, Markopoulou, K, Martikainen, M, Mata, I, Mazzetti, P, Mellick, G, Menendez-Gonzalez, M, Micheli, F, Mirelman, A, Mir, P, Morino, H, Morris, H, Munhoz, R, Naito, A, Olszewska, D, Ozelius, L, Padmanabhan, S, Paisan-Ruiz, C, Payami, H, Peluso, S, Petkovic, S, Petrucci, S, Pezzoli, G, Pimentel, M, Pirker, W, Pramstaller, P, Pulkes, T, Puschmann, A, Quattrone, A, Raggio, V, Ransmayr, G, Rieder, C, Riess, O, Rodriguez-Porcel, F, Rogaeva, E, Ross, O, Ruiz-Martinez, J, Sammler, E, San Luciano, M, Satake, W, Saunders-Pullman, R, Sazci, A, Scherzer, C, Schrag, A, Schumacher-Schuh, A, Sharma, M, Sidransky, E, Singleton, A, Petersen, M, Smolders, S, Spitz, M, Stefanis, L, Struhal, W, Sue, C, Swan, M, Swanberg, M, Taba, P, Taipa, R, Tan, M, Tan, A, Tan, E, Tang, B, Tayebi, N, Thaler, A, Thomas, A, Toda, T, Toft, M, Torres, L, Tumas, V, Valente, E, Van Broeckhoven, C, Vecsei, L, Velez-Pardo, C, Vidailhet, M, Warner, T, Williams-Gray, C, Winkelmann, J, Woitalla, D, Wood, N, Wszolek, Z, Wu, R, Wu, Y, Xie, T, Yoshino, H, Zhang, B, Zimprich, A, Vollstedt E. -J., Kasten M., Klein C., Aasly J., Adler C., Ahmad-Annuar A., Albanese A., Alcalay R. N., Al-Mubarak B., Alvarez V., Andree-Munoz B., Annesi G., Appel-Cresswell S., Arkadir D., Armasu S., Barber T. R., Bardien S., Barkhuizen M., Barrett M. J., Basak A. N., Beach T., Benitez B. A., Berg D., Bhatia K., Binkofski F., Blauwendraat C., Bonifati V., Borges V., Bozi M., Brice A., Brighina L., Brockmann K., Brucke T., Bruggemann N., Camacho M., Cardoso F., Belin A. C., Carr J., Chan P., Chang-Castello J., Chase B., Chen-Plotkin A., Ju Chung S., Cilia R., Clarimon J., Clark L., Cornejo-Olivas M., Corvol J. -C., Cosentino C., Cras P., Crosiers D., Damasio J., Das P., de Carvalho Aguiar P., De Michele G., De Rosa A., Dieguez E., Dorszewska J., Erer S., Ertan S., Farrer M., Fedotova E., Ferese R., Ferrarese C., Ferraz H., Fiala O., Foroud T., Friedman A., Frigerio R., Funayama M., Gambardella S., Garraux G., Gatto E. M., Genc G., Giladi N., Goldwurm S., Gomez-Esteban J. C., Gomez-Garre P., Gorostidi A., Grosset D., Hanagasi H., Hardy J., Hassan A., Hattori N., Hauser R. A., Hedera P., Hentati F., Hertz J. M., Holton J. L., Houlden H., Hutz M. H., Ikeuchi T., Illarioshkin S., Inca-Martinez M., Infante J., Jankovic J., Jeon B. S., Jesus S., Jimenez-Del-Rio M., Kaasinen V., Kataoka H., Kawakami H., Kim Y. J., Klivenyi P., Koks S., Konig I. R., Kostic V., Koziorowski D., Kruger R., Krygowska-Wajs A., Kulisevsky J., Lai D., Lang A., LeDoux M., Lesage S., Lim S. -Y., Lin C. -H., Lohmann K., Lopera F., Lopez G., Lu C. -S., Lynch T., Machaczka M., Madoev H., Magalhaes M., Majamaa K., Maraganore D., Marder K., Markopoulou K., Martikainen M. H., Mata I., Mazzetti P., Mellick G., Menendez-Gonzalez M., Micheli F., Mirelman A., Mir P., Morino H., Morris H., Munhoz R. P., Naito A., Olszewska D. A., Ozelius L. J., Padmanabhan S., Paisan-Ruiz C., Payami H., Peluso S., Petkovic S., Petrucci S., Pezzoli G., Pimentel M., Pirker W., Pramstaller P. P., Pulkes T., Puschmann A., Quattrone A., Raggio V., Ransmayr G., Rieder C., Riess O., Rodriguez-Porcel F., Rogaeva E., Ross O. A., Ruiz-Martinez J., Sammler E., San Luciano M., Satake W., Saunders-Pullman R., Sazci A., Scherzer C., Schrag A., Schumacher-Schuh A., Sharma M., Sidransky E., Singleton A. B., Petersen M. S., Smolders S., Spitz M., Stefanis L., Struhal W., Sue C. M., Swan M., Swanberg M., Taba P., Taipa R., Tan M., Tan A. H., Tan E. -K., Tang B., Tayebi N., Thaler A., Thomas A., Toda T., Toft M., Torres L., Tumas V., Valente E. M., Van Broeckhoven C., Vecsei L., Velez-Pardo C., Vidailhet M., Warner T. T., Williams-Gray C. H., Winkelmann J., Woitalla D., Wood N. W., Wszolek Z. K., Wu R. -M., Wu Y. -R., Xie T., Yoshino H., Zhang B., and Zimprich A.
- Published
- 2019
27. Response of Northern North Atlantic and Atlantic Meridional Overturning Circulation to Reduced and Enhanced Wind Stress Forcing
- Author
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Lohmann, K., primary, Putrasahan, D. A., additional, Storch, J.‐S., additional, Gutjahr, O., additional, Jungclaus, J. H., additional, and Haak, H., additional
- Published
- 2021
- Full Text
- View/download PDF
28. Multi-omic landscaping of human midbrains identifies neuroinflammation as major disease mechanism in advanced-stage Parkinson’s disease
- Author
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Michael P. Menden, Gaurav Jain, Elisabeth Barski, Andre Fischer, Anna-Elisa Roser, Mathias Bähr, Lohmann K, Christine Klein, Gomes Lc, Paul Lingor, Christof Lenz, Ana Galhoz, Fabian Maass, and Eleonora Carboni
- Subjects
0303 health sciences ,Small RNA ,Parkinson's disease ,Mechanism (biology) ,Computational biology ,Disease ,Biology ,Proteomics ,medicine.disease ,CHI3L1 ,3. Good health ,Transcriptome ,03 medical and health sciences ,0302 clinical medicine ,medicine ,030217 neurology & neurosurgery ,Neuroinflammation ,030304 developmental biology - Abstract
Parkinson’s disease (PD) is the second most common neurodegenerative disorder whose prevalence is rapidly increasing worldwide. The disease mechanisms of sporadic PD are not yet completely understood. Therefore, causative therapies are still lacking. To obtain a more integrative view of disease-mediated alterations, we investigated the molecular landscape of PD in human post-mortem midbrains. Tissue from 13 PD patients and 10 controls was subjected to small RNA sequencing, transcriptomics, and proteomics analysis. Differential expression analyses were performed reveal multiple deregulated molecular targets linked to known pathomechanisms of PD as well as novel processes. We found significant differential expression of miR-539-3p, miR-376a-5p, miR-218-5p, and miR-369-3p, the valid miRNA-mRNA interacting pairs of miR-218-5p/RAB6C, and miR-369-3p/GTF2H3, as well as multiple proteins relevant in the pathology of PD, including CHI3L1, SELENBP1, PRDX1, HSPA1B, and TH. Vertical integration of multiple omics analyses allowed to validate disease-mediated molecular alterations across different molecular layers and functional annotation of differentially expressed targets identified a strong enrichment of pathways related to inflammation and activation of the immune response. This suggests that neuroinflammation may significantly contribute to disease progression in PD and may be a promising therapeutic target in advanced stages of PD.
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- 2021
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- View/download PDF
29. Treatabolome database: towards enhancing Rare Diseases’ treatment visibility
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Hernandez-Ferrer, C., Corvó, A., Matalonga, L., Thompson, R., Carmody, L., Piscia, D., Macaya, A., Lochmuller, A., Manta, A., Fontaine, B., Vicart, S., Desaphy, J., Altamura, C., Wahbi, K., Sandre-Giovannoli, A., Vigouroux, C., Zurek, B., Rheinard, C., Gómez- Andrés, D., Schon, K., Over, L., Brüggemann, N., Lohmann, K., Jennings, M. J., Synofzik, M., Riess, O., Ben Yaou, R., Evangelista, T., Ratnaike, T., Bros-Facer, V., Gumus, G., Horvath, R., Chinnery, P., Graessner, H., Robinson, P., Atalaia, A., Lochmuller, H., Beltran, S., Gisèle Bonne, NOAA Air Resources Laboratory (ARL), National Oceanic and Atmospheric Administration (NOAA), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), and CHU Saint-Antoine [AP-HP]
- Subjects
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,rare diseases ,Treatment delay - Abstract
International audience
- Published
- 2021
30. Rhythms in Larval Release by an Estuarine Crab (Rhithropanopeus harrisii)
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Forward,, R. B., Lohmann, K., and Cronin, T. W.
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- 1982
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31. Genetik von Bewegungsstörungen
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Lohmann, K. and Brockmann, K.
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- 2013
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- View/download PDF
32. Bi-decadal variability excited in the coupled ocean–atmosphere system by strong tropical volcanic eruptions
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Zanchettin, D., Timmreck, C., Graf, H.-F., Rubino, A., Lorenz, S., Lohmann, K., Krüger, K., and Jungclaus, J. H.
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- 2012
- Full Text
- View/download PDF
33. Intravaginally applied metronidazole is as effective as orally applied in the treatment of bacterial vaginosis, but exhibits significantly less side effects
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Brandt, M., Abels, C., May, T., Lohmann, K., Schmidts-Winkler, I., and Hoyme, U.B.
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- 2008
- Full Text
- View/download PDF
34. Burnout bei Studierenden, die einen Bachelor-Abschluss anstreben
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Gusy, B., Lohmann, K., and Drewes, J.
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- 2010
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35. Medikamentenkonsum bei Studierenden
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Lohmann, K., Gusy, B., and Drewes, J.
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- 2010
- Full Text
- View/download PDF
36. Mutation screening of the GNAL gene in Serbian patients with isolated dystonia: 1351
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Dobricic, V. S., Westenberger, A. S., Kresojevic, N. D., Jankovic, M. Z., Tomic, A. D., Lukic, Jecmenica M.V., Petrovic, I. N., Svetel, M. V., Lohmann, K., Novakovic, I. V., Klein, C., and Kostic, V. S.
- Published
- 2014
37. Short and long-term outcome of chronic pallidal neurostimulation in DYT6 dystonia: 1243
- Author
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Brüggemann, N., Kühn, A., Schneider, S. A., Kamm, C., Wolters, A., Krause, P., Yu-Yan, P., Steigerwald, F., Wittstock, M., Tronnier, V., Zittel, S., Wächter, T., Krüger, R., Moro, E., Kupsch, A., Münchau, A., Lohmann, K., Volkmann, J., and Klein, C.
- Published
- 2014
38. The evolution of REM sleep behaviour disorder in Parkinsonʼs disease patients with parkin mutations: A report from the DeNoPa cohort: 805
- Author
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Sixel-Döring, F., Lohmann, K., Klein, C., Mollenhauer, B., and Trenkwalder, C.
- Published
- 2014
39. Identification of a truncating mutation in the PDGFB gene causing idiopathic basal ganglia calcification type 5 (IBGC5): 181
- Author
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Westenberger, A., Petrovic, I., Domingo, A., Dobricic, V., Lohmann, K., Novakovic, I., Kostic, V. S., and Klein, C.
- Published
- 2014
40. The evolution of REM sleep behaviour disorder in Parkinson’s disease patients with Parkin mutations: a report from the DeNoPa cohort: OS1125
- Author
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Sixel-Doering, F., Canelo, M., Lohmann, K., Klein, C., Mollenhauer, B., and Trenkwalder, C.
- Published
- 2014
41. Effect of Resolving Ocean Eddies on the Transient Response of Global Mean Surface Temperature to Abrupt 4xCO 2 Forcing
- Author
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Putrasahan, D. A., primary, Gutjahr, O., additional, Haak, H., additional, Jungclaus, J. H., additional, Lohmann, K., additional, Roberts, M. J., additional, and von Storch, J.‐S., additional
- Published
- 2021
- Full Text
- View/download PDF
42. Transcranial sonography findings in a large family with homozygous and heterozygous PINK1 mutations
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Hagenah, J.M., Becker, B., Bruggemann, N., Djarmati, A., Lohmann, K., Sprenger, A., Klein, C., and Seidel, G.
- Subjects
Ultrasound imaging -- Usage ,Gene mutations -- Research ,Gene mutations -- Physiological aspects ,Parkinson's disease -- Research ,Parkinson's disease -- Genetic aspects ,Health ,Psychology and mental health - Published
- 2008
43. Treatabolome: a rare diseases treatment awareness project
- Author
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Atalaia, A, Thompson, R, Corvo, A, Carmody, L, Piscia, D, Matalonga, L, Macaya, A, Lochmuller, A, Fontaine, B, Zurek, B, Hernandez-Ferrer, C, Rheinard, C, Gómez-Andrés, D, Schon, K, Lohmann, K, Jennings, M, Riess, O, Ben Yaou, R, Evangelista, T, Ratnaike, T, Bros-Facer, V, Gumus, G, Horvath, R, Chinnery, P, Laurie, S, Graessner, H, Robinson, P, Lochmuller, H, Beltran, S, Bonne, Gisèle, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CEA-Direction des Energies (ex-Direction de l'Energie Nucléaire) (CEA-DES (ex-DEN)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Centre for Energy Research [Budapest] (MTAE), Hungarian Academy of Sciences (MTA), and Newcastle University [Newcastle]
- Subjects
[SDV.GEN]Life Sciences [q-bio]/Genetics ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,[SDV]Life Sciences [q-bio] ,rare diseases - Abstract
International audience
- Published
- 2020
44. EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia
- Author
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Kuipers, D. (Demy), Mandemakers, W.J. (Wim), Lu, C.-S. (Chin-Song), Olgiati, S. (Simone), Breedveld, G.J. (Guido), Fevga, C. (Christina), Tadic, V. (Vera), Carecchio, M. (Miryam), Osterman, B. (Bradley), Sagi-Dain, L. (Lena), Wu-Chou, Y.H. (Yah-Huei), Chen, C.C. (Chiung C.), Chang, H.C. (Hsiu-Chen), Wu, S.-L. (Shey-Lin), Yeh, T.-H. (Tu-Hsueh), Weng, Y.H. (Yi Hsin), Elia, A.E. (Antonio E.), Panteghini, C. (Celeste), Marotta, N. (Nicolas), Pauly, M.G. (Martje G.), Kühn, A.A. (Andrea A.), Volkmann, J. (Jens), Lace, B. (Baiba), Meijer, I.A. (Inge A.), Kandaswamy, K. (Krishna), Quadri, M. (Marialuisa), Garavaglia, B. (Barbara), Lohmann, K. (Katja), Bauer, P. (Peter), Mencacci, N.E. (Niccolo), Lubbe, S.J. (Steven J.), Klein, C. (Christoph), Bertoli Avella, A.M. (Aida), Bonifati, V. (Vincenzo), Kuipers, D. (Demy), Mandemakers, W.J. (Wim), Lu, C.-S. (Chin-Song), Olgiati, S. (Simone), Breedveld, G.J. (Guido), Fevga, C. (Christina), Tadic, V. (Vera), Carecchio, M. (Miryam), Osterman, B. (Bradley), Sagi-Dain, L. (Lena), Wu-Chou, Y.H. (Yah-Huei), Chen, C.C. (Chiung C.), Chang, H.C. (Hsiu-Chen), Wu, S.-L. (Shey-Lin), Yeh, T.-H. (Tu-Hsueh), Weng, Y.H. (Yi Hsin), Elia, A.E. (Antonio E.), Panteghini, C. (Celeste), Marotta, N. (Nicolas), Pauly, M.G. (Martje G.), Kühn, A.A. (Andrea A.), Volkmann, J. (Jens), Lace, B. (Baiba), Meijer, I.A. (Inge A.), Kandaswamy, K. (Krishna), Quadri, M. (Marialuisa), Garavaglia, B. (Barbara), Lohmann, K. (Katja), Bauer, P. (Peter), Mencacci, N.E. (Niccolo), Lubbe, S.J. (Steven J.), Klein, C. (Christoph), Bertoli Avella, A.M. (Aida), and Bonifati, V. (Vincenzo)
- Abstract
Objective: The study was undertaken to identify a monogenic cause of early onset, generalized dystonia. Methods: Methods consisted of genome-wide linkage analysis, exome and Sanger sequencing, clinical neurological examination, brain magnetic resonance imaging, and protein expression studies in skin fibroblasts from patients. Results: We identified a heterozygous variant, c.388G>A, p.Gly130Arg, in the eukaryotic tra
- Published
- 2020
- Full Text
- View/download PDF
45. Northern Hemisphere blocking simulation in current climate models: evaluating progress from the Climate Model Intercomparison Project Phase 5 to 6 and sensitivity to resolution
- Author
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Ministerio de Economía y Competitividad (España), Schiemann R., Athanasiadis P., Barriopedro, David, Doblas-Reyes F., Lohmann K., Roberts M.J., Sein D.V., Roberts C.D., Terray L., Ministerio de Economía y Competitividad (España), Schiemann R., Athanasiadis P., Barriopedro, David, Doblas-Reyes F., Lohmann K., Roberts M.J., Sein D.V., Roberts C.D., and Terray L.
- Abstract
Global climate models (GCMs) are known to suffer from biases in the simulation of atmospheric blocking, and this study provides an assessment of how blocking is represented by the latest generation of GCMs. It is evaluated (i) how historical CMIP6 (Climate Model Intercomparison Project Phase 6) simulations perform compared to CMIP5 simulations and (ii) how horizontal model resolution affects the simulation of blocking in the CMIP6-HighResMIP (PRIMAVERA ¿ PRocess-based climate sIMulation: AdVances in high-resolution modelling and European climate Risk Assessment) model ensemble, which is designed to address this type of question. Two blocking indices are used to evaluate the simulated mean blocking frequency and blocking persistence for the Euro-Atlantic and Pacific regions in winter and summer against the corresponding estimates from atmospheric reanalysis data. There is robust evidence that CMIP6 models simulate blocking frequency and persistence better than CMIP5 models in the Atlantic and Pacific and during winter and summer. This improvement is sizeable so that, for example, winter blocking frequency in the median CMIP5 model in a large Euro-Atlantic domain is underestimated by 33% using the absolute geopotential height (AGP) blocking index, whereas the same number is 18% for the median CMIP6 model. As for the sensitivity of simulated blocking to resolution, it is found that the resolution increase, from typically 100 to 20 km grid spacing, in most of the PRIMAVERA models, which are not re-tuned at the higher resolutions, benefits the mean blocking frequency in the Atlantic in winter and summer and in the Pacific in summer. Simulated blocking persistence, however, is not seen to improve with resolution. Our results are consistent with previous studies suggesting that resolution is one of a number of interacting factors necessary for an adequate simulation of blocking in GCMs. The improvements reported in this study hold promise for further reductions in blocking
- Published
- 2020
46. The cellular Toll-like receptor 4 antagonist E5531 can act as an agonist in horse whole blood
- Author
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Bryant, Clare E., Ouellette, A., Lohmann, K., Vandenplas, M., Moore, J.N., Maskell, D.J., and Farnfield, B.A.
- Published
- 2007
- Full Text
- View/download PDF
47. Abstracts of original contributions ASNC 2004 9th annual scientific session September 3-–October 3, 2004 New York, New York
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Abidov, A, Hachamovitch, R, Friedman, JD, Hayes, SW, Kang, X, Cohen, I, Germano, G, Berman, DS, Kjaer, A, Cortsen, A, Federspiel, M, Hesse, B, Holm, S, O’Connor, M, Dhalla, AK, Wong, M-Y, Wang, W-Q, Belardinelli, L, Therapeutics, CV, Epps, A, Dave, S, Brewer, K, Chiaramida, S, Gordon, L, Hendrix, GH, Feng, B, Pretorius, PH, Bruyant, PP, Boening, G, Beach, RD, Gifford, HC, King, MA, Fessler, JA, Hsu, B-L, Case, JA, Gegen, LL, Hertenstein, GK, Cullom, SJ, Bateman, TM, Akincioglu, C, Abidov, A, Nishina, H, Kavanagh, P, Kang, X, Aboul-Enein, F, Yang, L, Hayes, S, Friedman, J, Berman, D, Germano, G, Santana, CA, Rivero, A, Folks, RD, Grossman, GB, Cooke, CD, Hunsche, A, Faber, TL, Halkar, R, Garcia, EV, Hansen, CL, Silver, S, Kaplan, A, Rasalingam, R, Awar, M, Shirato, S, Reist, K, Htay, T, Mehta, D, Cho, J-H, Heo, J, Dubovsky, E, Calnon, DA, Grewal, KS, George, PB, Richards, DR, Hsi, DH, Singh, N, Meszaros, Z, Thomas, JL, Reyes, E, Loong, CY, Latus, K, Anagnostopoulos, C, Underwood, SR, 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- 2004
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48. Glucocerebrosidase mutations in a Serbian Parkinsonʼs disease population
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Kumar, K. R., Ramirez, A., Göbel, A., Kresojević, N., Svetel, M., Lohmann, K., M Sue, C., Rolfs, A., Mazzulli, J. R., Alcalay, R. N., Krainc, D., Klein, C., Kostic, V., and Grünewald, A.
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- 2013
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49. RHYTHMS IN LARVAL RELEASE BY AN ESTUARINE CRAB (RHITHROPANOPEUS HARRISH)
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Forward, R B, Lohmann, K, Cronin, T W, and BioStor
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- 1982
50. Antimatter and matter production in heavy ion collisions at CERN (The NEWMASS experiment NA52)
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Pretzl, K., Ambrosini, G., Arsenescu, R., Baglin, C., Beck, H. P., Borer, K., Bussière, A., Elsener, K., Gorodetzky, Ph., Guillaud, J. P., Hess, P., Kabana, S., Klingenberg, R., Lehmann, G., Lindén, T., Lohmann, K. D., Mommsen, R., Moser, U., Pretzl, K., Schacher, J., Spiwoks, R., Stoffel, F., Tuominiemi, J., and Weber, M.
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- 2001
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