1,506 results on '"Vidailhet, M."'
Search Results
52. Oméga 3 : une situation de carence chez le jeune enfant ?
- Author
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Vidailhet, M.
- Published
- 2007
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53. Neonatal screening for cystic fibrosis: France rises to the challenge
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Farriaux, J. P., Vidailhet, M., Briard, M. L., Belot, V., and Dhondt, J. L.
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- 2003
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54. Adult presentation of MCAD deficiency revealed by coma and severe arrythmias.
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Feillet, F., Steinmann, G, Vianey-Saban, C., de Chillou, C., Sadoul, N., Lefebvre, E., Vidailhet, M., and Bollaert, P. E.
- Published
- 2003
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- View/download PDF
55. A polymorphism of the aromatic L-amino acid decarboxylase gene affects the motor response to L-Dopa in Parkinsonʼs disease: 12-11
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Devos, D, Cormier, F, Lejeune, S, Tahiri, K, Charbonnier-Beaupel, F, Rouaix, N, Bonnet, A M, Bonnet, C, Zahr, N, Costentin, J, Vidailhet, M, and Corvol, J C
- Published
- 2013
56. PRRT2 mutations and paroxysmal disorders
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Méneret, A., Gaudebout, C., Riant, F., Vidailhet, M., Depienne, C., and Roze, E.
- Published
- 2013
- Full Text
- View/download PDF
57. Cerebellar Processing of Sensory Inputs Primes Motor Cortex Plasticity
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Popa, T., Velayudhan, B., Hubsch, C., Pradeep, S., Roze, E., Vidailhet, M., Meunier, S., and Kishore, A.
- Published
- 2013
- Full Text
- View/download PDF
58. EFNS/MDS-ES recommendations for the diagnosis of Parkinsonʼs disease
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Berardelli, A., Wenning, G. K., Antonini, A., Berg, D., Bloem, B. R., Bonifati, V., Brooks, D., Burn, D. J., Colosimo, C., Fanciulli, A., Ferreira, J., Gasser, T., Grandas, F., Kanovsky, P., Kostic, V., Kulisevsky, J., Oertel, W., Poewe, W., Reese, J.-P., Relja, M., Ruzicka, E., Schrag, A., Seppi, K., Taba, P., and Vidailhet, M.
- Published
- 2013
- Full Text
- View/download PDF
59. Critères diagnostiques
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Ewenczyk, C., primary and Vidailhet, M., additional
- Published
- 2011
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60. Diagnosis and Treatment of Primary (Idiopathic) Dystonia
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Albanese, A., primary, Asmus, F., additional, Berardelli, A., additional, Bhatia, K., additional, Elia, A. E., additional, Elibol, B., additional, Filippini, G., additional, Gasser, T., additional, Krauss, J. K., additional, Nardocci, N., additional, Newton, A., additional, Valls-Solé, J., additional, and Vidailhet, M., additional
- Published
- 2010
- Full Text
- View/download PDF
61. GM1 Type 3 Gangliosidosis
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Roze, E., primary, Vidailhet, M., additional, and Flamand-Rouvière, C., additional
- Published
- 2010
- Full Text
- View/download PDF
62. Recessive Hereditary Methemoglobinemia Type II
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Roze, E., primary, Vidailhet, M., additional, and Ewenczyk, C., additional
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- 2010
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- View/download PDF
63. Mucopolisacaridosis
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Feillet, F., Journeau, P., Straczek, J., and Vidailhet, M.
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- 2006
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64. Mouvements choréiques résolutifs sous traitement anti-rétroviral au cours d’une encéphalite à VIH
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Trocello, J.-M., Blanchet, A., Bourdain, F., Meyohas, M.-C., and Vidailhet, M.
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- 2006
- Full Text
- View/download PDF
65. EFNS/MDS-ES recommendations for the diagnosis of Parkinsonʼs disease: FW 4-4
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Berardelli, A., Wenning, G., Antonini, A., Berg, D., Bloem, B. R., Bonifati, V., Brooks, D., Burn, David, Colosimo, C., Ferreira, J., Gasser, T., Grandas, F., Kanovsky, P., Kostic, V., Kulisevsky, J., Oertel, W., Poewe, W., Reese, J.-P., Relja, M., Ruzicka, E., Schapira, A., Schrag, A., Seppi, K., Taba, P., and Vidailhet, M.
- Published
- 2012
66. Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinsonʼs disease in the European population
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Saad, Mohamad, Lesage, Suzanne, Saint-Pierre, Aude, Corvol, Jean-Christophe, Zelenika, Diana, Lambert, Jean-Charles, Vidailhet, Marie, Mellick, George D., Lohmann, Ebba, Durif, Franck, Pollak, Pierre, Damier, Philippe, Tison, François, Silburn, Peter A., Tzourio, Christophe, Forlani, Sylvie, Loriot, Marie-Anne, Giroud, Maurice, Helmer, Catherine, Portet, Florence, Amouyel, Philippe, Lathrop, Mark, Elbaz, Alexis, Durr, Alexandra, Martinez, Maria, Brice, Alexis, Agid, Y., Anheim, M., Bonnet, A.-M., Borg, M., Brice, A., Broussolle, E., Corvol, J.-C., Damier, Ph., Destée, A., Dürr, A., Durif, F., Klebe, S., Lohmann, E., Martinez, M., Penet, C., Pollak, P., Rascol, O., Tison, F., Tranchant, C., Vérin, M., Viallet, F., and Vidailhet, M.
- Published
- 2011
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67. Large-scale screening of the Gaucherʼs disease-related glucocerebrosidase gene in Europeans with Parkinsonʼs disease
- Author
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Lesage, Suzanne, Anheim, Mathieu, Condroyer, Christel, Pollak, Pierre, Durif, Franck, Dupuits, Céline, Viallet, François, Lohmann, Ebba, Corvol, Jean-Christophe, Honoré, Aurélie, Rivaud, Sophie, Vidailhet, Marie, Dürr, Alexandra, Brice, Alexis, Agid, Y., Bonnet, A.-M., Borg, M., Brice, A., Broussolle, E., Damier, Ph., Destée, A., Dürr, A., Durif, F., Lesage, S., Lohmann, E., Martinez, M., Pollak, P., Rascol, O., Tison, F., Tranchant, C., Troiano, A., Vérin, M., Viallet, F., and Vidailhet, M.
- Published
- 2011
- Full Text
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68. Movement disorders as a new neurological clinical picture in severe SARS‐CoV‐2 infection
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Cuhna, P., primary, Herlin, B., additional, Vassilev, K., additional, Kas, A., additional, Lehericy, S., additional, Worbe, Y., additional, Apartis, E., additional, Vidailhet, M., additional, and Dupont, S., additional
- Published
- 2020
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69. Overt replay of a recently learned motor sequence during slow-wave sleep in sleepwalking patients: SC211
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Constantinescu, I. O., Oudiette, D., Leclair-Visonneau, L., Vidailhet, M., Schwartz, S., and Arnulf, I.
- Published
- 2010
70. Parkinsonʼs disease-related LRRK2 G2019S mutation results from independent mutational events in humans
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Lesage, Suzanne, Patin, Etienne, Condroyer, Christel, Leutenegger, Anne-Louise, Lohmann, Ebba, Giladi, Nir, Bar-Shira, Anat, Belarbi, Soraya, Hecham, Nassima, Pollak, Pierre, Ouvrard-Hernandez, Anne-Marie, Bardien, Soraya, Carr, Jonathan, Benhassine, Traki, Tomiyama, Hiroyuki, Pirkevi, Caroline, Hamadouche, Tarik, Cazeneuve, Cécile, Basak, A. Nazli, Hattori, Nobutaka, Dürr, Alexandra, Tazir, Meriem, Orr-Urtreger, Avi, Quintana-Murci, Lluis, Brice, Alexis, Agid, Y., Bonnet, A.-M., Borg, M., Brice, A., Broussolle, E., Damier, Ph., Destée, A., Dürr, A., Durif, F., Lohmann, E., Martinez, M., Penet, C., Pollak, P., Rascol, O., Tison, F., Tranchant, C., Troiano, A., Vérin, M., Viallet, F., and Vidailhet, M.
- Published
- 2010
- Full Text
- View/download PDF
71. Pulmonary evolution of cystic fibrosis patients colonized by Pseudomonas aeruginosa and/or Burkholderia cepacia
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Jacques, I., Derelle, J., Weber, M., and Vidailhet, M.
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- 1998
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72. Le programme français de dépistage néonatal systématique dans la mucoviscidose : résultats et interrogations sur un million de tests
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Munck, A., Sahler, C., Briard, M.L., Vidailhet, M., and Farriaux, J.P.
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- 2005
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73. Decreased functional interactions in the motor network of patients with focal hand dystonia using fMRI
- Author
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Coynel, D., Vidailhet, M., Delmaire, C., Marrelec, G., Perlbarg, V., Krainik, A., Sangla, S., Doyon, J., Lehéricy, S., and Benali, H.
- Published
- 2009
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74. Case-control study of writerʼs cramp
- Author
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Roze, E, Soumaré, A, Pironneau, I, Sangla, S, de Cock, V Cochen, Teixeira, A, Astorquiza, A, Bonnet, C, Bleton, J P, Vidailhet, M, and Elbaz, A
- Published
- 2009
75. Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum
- Author
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Ewenczyk, C., Leroux, A., Roubergue, A., Laugel, V., Afenjar, A., Saudubray, J. M., Beauvais, P., de Villemeur, T. Billette, Vidailhet, M., and Roze, E.
- Published
- 2008
76. Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
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Florian, R.T., Kraft, F., Leitao, E., Kaya, S., Klebe, S., Magnin, E., Rootselaar, A.F. van, Buratti, J., Kuhnel, T., Schroder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., Lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L., Kubica, R., Ye, T., Plassard, D., Jost, B., Meyer, V., Deleuze, J.F., Delpu, Y., Avarello, M.D.M., Vijfhuizen, L.S., Rudolf, G., Hirsch, E., Kroes, T., Reif, P.S., Rosenow, F., Ganos, C., Vidailhet, M., Thivard, L., Mathieu, A., Bourgeron, T., Kurth, I., Rafehi, H., Steenpass, L., Horsthemke, B., Berkovic, S.F., Bisulli, F., Brancati, F., Canafoglia, L., Casari, G., Guerrini, R., Ishiura, H., Licchetta, L., Mei, D., Pippucci, T., Sadleir, L., Scheffer, I.E., Striano, P., Tinuper, P., Tsuji, S., Zara, F., LeGuern, E., Klein, K.M., Labauge, P., Bennett, M.F., Bahlo, M., Gecz, J., Corbett, M.A., Tijssen, M.A.J., Maagdenberg, A.M.J.M. van den, Depienne, C., and FAME Consortium
- Abstract
Familial Adult Myoclonic Epilepsy (FAME) is a genetically heterogeneous disorder characterized by cortical tremor and seizures. Intronic TTTTA/TTTCA repeat expansions in SAMD12 (FAME1) are the main cause of FAME in Asia. Using genome sequencing and repeat-primed PCR, we identify another site of this repeat expansion, in MARCH6 (FAME3) in four European families. Analysis of single DNA molecules with nanopore sequencing and molecular combing show that expansions range from 3.3 to 14 kb on average. However, we observe considerable variability in expansion length and structure, supporting the existence of multiple expansion configurations in blood cells and fibroblasts of the same individual. Moreover, the largest expansions are associated with micro-rearrangements occurring near the expansion in 20% of cells. This study provides further evidence that FAME is caused by intronic TTTTA/TTTCA expansions in distinct genes and reveals that expansions exhibit an unexpectedly high somatic instability that can ultimately result in genomic rearrangements.
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- 2019
77. Effect of gabapentin on oculomotor control and parkinsonism in patients with progressive supranuclear palsy
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Poujois, A., Vidailhet, M., Trocello, J.-M., Bourdain, F., Gaymard, B., and Rivaud-Péchoux, S.
- Published
- 2007
78. Clinical and electrophysiological phenotype of myoclonus dystonia due to epsilon sarcoglycan gene mutations: 16
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Apartis, E., Roze, E., Clot, F., Guyon-Marechal, I., Thobois, S., Tranchant, C., Damier, P., Beaugendre, Y., Durr, A., and Vidailhet, M.
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- 2007
79. Mixing pro- and antisaccades in patients with parkinsonian syndromes
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Rivaud-Péchoux, S., Vidailhet, M., Brandel, J. P., and Gaymard, B.
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- 2007
80. Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes
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du Montcel, S Tezenas, Clot, F, Vidailhet, M, Roze, E, Damier, P, Jedynak, C P, Camuzat, A, Lagueny, A, Vercueil, L, Doummar, D, Guyant-Maréchal, L, Houeto, J-L, Ponsot, G, Thobois, S, Cournelle, M-A, Durr, A, Durif, F, Echenne, B, Hannequin, D, Tranchant, C, and Brice, A
- Published
- 2006
81. Fourth meeting of the European Neurological Society 25–29 June 1994 Barcelona, Spain: Abstracts of Symposia and free communications
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Harms, L., Bock, A., JÄnisch, W., Valdueza, J., Weber, J., Link, I., De Keyser, J., Goossens, A., Wilczak, N., Vedeler, C., Bjorge, L., Uvestad, E., Conti, G., Williams, K., Ginsberg, L., Rafique, S., Rapoport, S. I., Gershfeld, N. L., De La Meilleure, G., Crevits, L., Faiss, J. H., Heye, N., Blanke, J., Sackmann, A., Kastrup, O., Doornbos, R., van der Worp, H. B., Kappelle, L. J., Bar, P. R., Davie, C. A., Barker, G. J., Brenton, D., Miller, D. H., Thompson, A. J., Block, F., Schwarz, M., Delodovici, L., Baruzzi, F., Bonaldi, G., Dario, A., Marra, A., Mercuri, A., Dworzak, F., Cavallari, P., Confalonieri, P., Zuffi, M., Antozzi, C., Cornelio, F., Baldissera, F., Chassande, B., Ameri, A., Eymard, B., Poisson, M., Vérier, A., Brunet, P., Congia, S., Murgia, P. L., Cannas, A., Borghero, G., Uselli, S., Mellino, G., Ferrai, R., Lampis, R., Massa, R., Muzzetto, B., Giannini, F., Rossi, S., Cioni, R., d'Aniello, C., Guarneri, A., Battistini, N., Ceriani, F., Del Santo, A., Poloni, M., Campo, J. F., Iglesias, F., Guitera, M. V., Farinas, C., Pascual, J., Leno, C., Berciano, J., Thorpe, I. W., Kendall, B. E., McDonald, W. I., Moulignier, A., Dromer, F., Baudrimont, M., Dupont, B., Gozlan, J., El Amrani, M., Petit, J. C., Roullet, E., Sterzi, R., Causaran, R., Protti, A., Riva, M., Erminio, F., Arena, O., Villa, F., Maccagnano, E., Miletta, M., Spinelli, F., Ben-Hur, T., Weidenfeldl, J., Rao, N. S., Chari, C. C., Laforet, P., Matheron, S., Adams, D., Chemouilli, Ph., Desi, M., Said, G., Davous, P., Lionnet, F., Pulik, M., Genet, P., Rozenberg, F., Cartier, L. M., Castillo, J. L., Cea, J. G., Villagra, R., de Saint Martin, L., Mahieux, F., Manifacier, M. J., Mattos, K., Queiros, C., Publio, L., Vinhas, V., PeÇanha-Martins, A. C., Melo, A., Liska, U., Zifko, U., Budka, H., Drlicek, M., Grisold, W., Kaufmann, R., Kaiser, R., Czygan, M., Gomes, I., Jones, N., Cunha, S., EmbiruÇu, E. Katiane, Vieira, V., Araujo, I., Alexandra, M., Ferreira, A., Goes, J., Chemouilli, P., Israel-Biet, Masson, H., Lacroix, C., Gasnault, J., Hildebrandt-Müller, B., Oschmann, P., Krack, P., Willems, W. R., Dorndorf, W., Freitas, V., Bittencourt, A., Fernandes, D., Nascimento, M. H., Severo, M., Moraes, D., Muller, M., Hasert, K., Merkelbach, S., Schimrigk, K., van Oosten, B. W., Lai, M., Polman, C. H., Bertelsmann, F. W., Hodgkinson, S., Cabre, P. H., Volpe, L., Smadja, D., Vernant, J. P., Villaroya, H., Violleau, K., Younes-Chennoufi, A. Ben, Baumann, N., Villanueva-Hemandez, P., Ballabriga, J., Basart, E., Arbizu, T. X., Perez-Serra, J., Vinuels, F., Giron, J. M., Castilla, J. M., Redondo, L., Izquierdo, G., Lauer, K., Henneberg, A., Bittmann, N., Link, D., Wollinsky, K. H., Mobner, R., Fassbender, K., Kuhnen, J., Schwartz, A., Hennerici, M., Miller, A., Lider, O., Abramsky, O., Weiner, H. L., Offner, H., Vanderbark, A. A., Paoino, E., Fainardi, E., Addonizio, M. C., Ruppi, P., Tola, M. R., Granieri, E., Carreras, M., Sazdovitch, V., Joutel, A., Verdier-taillefer, M. H., Heinzlef, O., Radder, C., Tournier-Lasserve, E., Brenner, R. E., Munro, P. M. G., Williams, S. C. R., Bell, J. D., Hawkins, C. P., Filippi, M., Campi, A., Dousset, V., Canal, N., Comi, G., Zhu, J., Weber, F., Retska, R., List, J., Zhang, L., Brock, M., Taphoorn, M. J. B., Heimans, J. J., van der Veen, E. A., Karim, A. B. M. F., Sarazin, M., Argentino, N., Delattre, J. Y., Derkinderen, P., Buchwald, B., Schroter, G., Serve, G., Franke, C. H., Conrad, B., Kitchen, N. D., Thomas, D. G. T., Forman, A. D., Ang, Kie- Kian, Price, R., Stephens, C., Salmaggi, A., Nermni, R., Silvani, A., Forno, M. G., Luksch, R., Boiardi, A., Grzelec, H., Fryze, C., Nowacki, P., Zdziarska, B., Sanson, M., Merel, P., Richard, S., Rouleau, G., Thomas, G., Olsen, N. K., Pfeiffer, P., Egund, N., Bentzen, S. M., Johannesen, L., Mondrup, K., Rose, C., Zyluk, B., Wondrusch, E., Berger, O., Fast, N., Jellinger, K., Lindner, K., Urman, A., Thibault, J. L., Duyckaerts, Ch., Strik, H., Muller, B., Richter, E., Krauseneck, P., Steinbrecher, A., Schabet, M., Hess, C., Bamberg, M., Dichgans, J., Counsell, C. E., McLeod, M., Grant, R., Creel, G. B., Claus, D., Sieber, E., Engelhardt, A., Rechlin, T., Thierauf, P., Neubauer, U., Peresson, M., Di Giovacchino, G., Romani, G. L., Di Silverio, F., Danek, A., Kuffner, M., Hoermann, R., Schopohl, J., Laska, M., Heye, B., Zangaladze, A. T., Valls-SoIè, J., Cammarota, A., Alvarez, R., Tolosa, E., Hallett, M., Ulbricht, D., Ganslandt, O., Kober, H., Vieth, J., Grummich, P., Pongratz, H., Brigel, C., Fahlbusch, R., Serra, F. P., Palma, V., Nolfe, G., Buscaino, G. A., Rothstein, T. L., Gibson J. M., Morrison P. M., Collins A. D., Eiselt, M., Wagnur, H., Zwiener, U., Schindler, T., Efendi, H., Ertekin, C., Erfas, M., Larsson, L. E., Sirin, H., AraÇ, N., Toygar, A., Demir, Y., Seddigh, S., Vogt, T. H., Hundemer, H., Visbeck, A., Pastena, L., Faralli, F., Mainardi, G., Gagliardi, R., Linden, D., Berlit, P., Lopez, O. L., Becker, J. T., Jungreis, C., Brenner, R., Rezek, D., Dekesky, S. T., Estol, C., Boller, F., Fernandez, J. M., Mederer, S., Batlle, J., Turon, A., Codina, A., Hitzenberger, P., Vila, N., Valls-SolÇ, J., Chamorro, A., Pouget, J., Schmied, A., Morin, D., Azulay, J. Ph., Vedel, J. P., Montalt, J., Escudero, J., Barona, R., Campos, A., Varli, K., Ertem, E., Uludag, B., Yagiz, A., Privorkin, Z., Steinvil, Y., Kott, E., Combarros, O., Sanchez-Pernaute, R., Orizaola, P., Mokrusch, Th., Kutluaye, E., Selcuki, D., Ertikin, C., Zettl, U., Gold, R., Harvey, G. K., Hartung, H. P., Toyka, K. V., Wokke, J. H. J., Oey, P. L., Ippel, P. F., Jansen, G. H., Franssen, H., Toyooka, K., Fujimura, H., Ueno, S., Yoshikawa, H., Yorifuji, S., Yanagihara, T., Talamon, C., Tzourio, C., Kiefer, R., Jung, S., Toyka, K., Ruolt, I., Tranchant, C., Mohr, M., Warter, J. M., Younger, D. S., Rosoklija, G., Hays, A. P., Kurita, R., Hasegawa, O., Matsumto, M., Komiyama, A., Nara, Y., Oueslati, S., Belal, S., Turki, I., Ben Hamida, C., Hentati, F., Ben Hamida, M., Kwiecinski, H., Krolicki, L., Domzal-Stryga, A., Dellemijn, P. L. I., van Deventer, P., van Moll, B., Drogendijk, T., Vecht, Ch. J., Nemni S., Amadio, Fazio, R., Galardin, G., Delodovici, M. L., Peghi, E., Monticelli, M. L., Sessa, A., Viguera, M. L., Palomar, M., Gamez, J., Cervera, C., Navarro, C., Serena, J., Duran, I., Fernandez, A. L., Comabella, M., Nos, C., Rio, J., Montalban, J., Navarro, X., Verdu, E., Darbra, S., Buti, M., Mrabet, A., Fredj, M., Gouider, R., Tounsi, H., Khalfallah, N., Haddad, A., Dbaiss, T., Ghnassia, R., Rouillet, E., Chedru, F., Porsche, H., Strenge, H., Li, S. W., Young, Y. P., Garcia, A. A., Baron, P., Scarpini, E., Bianchi, R., Conti, A., Livraghi, S., Rees, J. H., Gregson, N. A., Hughes, R. A. C., Sedano, M. J., Calleja, J., Canga, E., Bahou, Y., Biary, N., Al Deeb, S. M., Guern, E. L. E., Gugenheim, M., Tardieu, S., Aisonobe, T. M., Agid, Y., Bouche, P., Brice, A., Rautenstrauss, B., Nelis, E., Grehl, H., Van Broeckhoven, C., Pfeiffer, R. A., Liehr, T., Ganzmann, E., Gehring, C., Neundörfer, B., Geremia, L., Doronzo, R., Sacilotto, G., Sergi, P., Pastorino, G. C., Scarlato, G., Planté-Bordeneuve, V., Mantel, A., Baas, F., Moser, H., Antonini, A., Psylla, M., Günther, I., Vontobell, P., Beer, H. F., Leenders, K. L., Chaudhuri, K. Ray, Parker, J., Pye, I. F., Millac, P. A. H., Abbott, R. J., Sutter, M., Albani, C., de Rijk, M. C., Breteler, M. M. B., Graveland, G. A., van der Mechè, F. G. A., Hofman, A., Keipes, M., Hilger, Ch., Diederich, N., Metz, H., Hentges, F., Pollak, P., Benabid, A. L., Limousin, P., Hoffmann, D., Benazzouz, A., Perret, J., Laihinen, A., Rinne, J. O., Ruottinen, H., Nagren, K., Lehikoinen, P., Oikonen, V., Ruotsalainen, U., Rinne, U. K., Cocozza, S., Pizzuti, A., Cavalcanti, F., Monticelli, A., Pianese, L., Redolfi, E., Paiau, F., Di Donato, S., Pandolfo, M., Palau, F., Monros, E., De Michele, G., Smeyers, P., Lopez-ArLandis, J., Uilchez, J., Filla, A., Genis, D., Matilla, T., Volpini, V., Blanchs, M. I., Davalos, A., Molins, A., Rosell, J., Estivill, X., De Jonghe, P., Smeyers, G., Krols, L., Mercelis, R., Hazan, J., Weissenbach, J., Martin, J. J., Warner, T. A. T., Williams, L., Orb, A. S., Harding, A. E., Giunti, P., Sweeney, M. G., Spadaro, M., Jodice, C., Novelletto, A., Malaspina, P., Frontali, M., Salmon, E., Gregoire, Del Fiore, Comar, Franck, G., Scheltens, P. H., Siegfried, K., Dartigues, E., De Deyn, P., Horn, R., Nelson, I., Hanna, M. G., Morgan-Hughes, J. A., Collinge, J., Palmer, M. S., Campbell, T., Mahal, S., Sidle, K., Humphreys, C., Tavitian, B., Pappata, S., Jobert, A., Crouzel, A. M., DiGiamberardino, L., Steimetz, G., Barbanti, P., Fabbrini, G., Salvatore, M., Buzzi, M. G., Di Piero, V., Petraroli, R., Sbriccoli, A., Pocchiari, M., Macchi, G., Lenzi, G. L., Spiegel, R., Maguire, P., Schmid, W., Ott, A., Bots, M. L., Grobbe, D. E., Hofman, A., Howard, R. S., Russell, S., Losseff, N., Hirsch, N. P., Couderc, R., Bailleul, S., Nargeot, M. C., Touchon, J., Picot, M. C., Rizzo, M., Watson, G., McGehee, D., Dingus, T., Kappos, L., Radü, E. W., Haas, J., Hartard, C. H., Spuler, S., Yousry, T., Voltz, R., Scheller, A., Holler, E., Hohlfeld, R., Scolding, N. J., Sussman, J., Kolar, O. J., Farlow, M. R., Rice, P. H., Zipp, F., Sotgiu, S., Weiss, E. H., Wekerle, H., Chalmers, R., Robertson, N., Compston, D. A. S., Martino, G., Clementi, E., Brambilla, E., Moiola, L., Martinelli, V., Colombo, B., Poggi, A., Rovaris, M., Grimaldi, L. M. E., Roth, M. P., Descoins, P., Ballivet, S., Ruidavets, J. B., Waubant, E., Nogueira, L., Cambon-Thomsen, A., Clanet, M., Leppert, D., Hauser, S., Lugaresi, A., Tartaro, A., D'aurelio, P., Befalo, L. L. O., Thomas, A., Malatesta, G., Gambi, D., Benedikz, J. E. G., Magnusson, H., Poser, C. M., Guomundsson, G., Bates, T. E., Davies, S. E. C., Clark, J. B., Landon, D. N., ùther, J. R., Rautenberg, W., Overgaard, K., Sereghy, T., Pedersen, H., Boysen, G., Diez-Tejedor, E., Carceller, F., Gutierrez, M., Lopez-Pajares, R., Roda, J. M., Chandra, B., Ricart, W., Gonzalez-Huix, F., Molina, A., Rundek, T., Demarin, V., De Reuck, J., Boon, P., Decoq, D., Strijckmans, K., Goethals, P., Lemahieu, I., Nibbio, A., Chabriat, H., Vahedi, K., Nagy, T., Verin, M., Mas, J. L., Julien, J., Ducrocq, X., Iba-Zizen, M. T., Cabanis, E. A., Bousser, M. G., Rolland, Y., Landgraf, F., Bompais, B., Lemaitre, M. H., Edan, G., Vorstrup, S., Knudsen, L., Olsen, K. Skovgaard, Videbaek, C., Schroeder, T., van Gijn, J., Jansen, H. M. L., Pruim, J., Paans, A. M. J., Willemsen, A. T. M., Hew, J. M., vd Vliet, A. M., Haaxma, R., Vaalburg, W., Minderhoud, J. M., Korf, J., Soudain, S. E., Ho, T. W., Mishu, B., Li, C. Y., Nachainkin, I., Gao, C. Y., Cornblath, D. R., Griffin, J. W., Asbury, A. K., Blaser, M. J., McKhann, G. M., Ho, T., Macko, C., Xue, P., Stadlan, E. M., Ramos-Alvarez, M., Valenciano, L., Visser, L. H., van der Meché, F. G. A., van Darn, P. A., Meulstee, J., Schmitz, P. I. M., Jacobs, B., Oomes, P. G., Kleyweg, R. P., Jacobs, B. C., Endtz, H. P., van Doorn, P. A., van der Mech, F. G. A., Van den Berg, L. H., Mollee, I., Logtenberg, T., Thomas, P. K., Plant, G., Baxter, P. J., Luis, R. Santiago, Matsumoto, M., Notermans, N. C., Wokke, J. H. J., Lokhorst, H. M., van der Graaf, Y., Jennekens, F. G. I., Azulay, J. P., Bille-Turg, F., Valentin, P., Farnarier, G. G., Pellissier, J. F., Serratrice, G., Quasthoff, S., Schneider, U., Grafe, P., Hilkens, P. H. E., Moll, J. W. B., van der Burg, M. E. L., Planting, A. S. T., van Putten, W. L. J., van den Bent, M. J., Birklein, F., Spitzer, A., Lang, E., Neundorfer, B., Diehl, R. R., Lücke, D., Smith, G. D. P., Mathias, C. J., Serra, J., Campera, M., Ochoa, J. L., Ray Chaudhuri, K., Pavitt, D., Alam, M., Handwerker, H. O., Bleasdale-Barr, K., Smith, G., Murray, N. M. F., Hawkins, P., Pepys, M., Gellera, C., DiDonato, S., Taroni, F., Uncini, A., Di Muzio, A., Servidei, S., Silvestri, G., Lodi, R., Iotti, S., Barbiroli, B., Morrissey, S. P., Borruat, F. X., Francis, D., Mosely, I., Hansen, H. C., Helmke, K., Kunze, K., Sadzot, B., Maquet, P., Lemaire, Plenevaux, Damhaut, Sommer, C., Myers, R. R., Berta, E., Mantegazza, R., Argov, Z., Shapira, Y., Wirguin, I., Beuuer, J., Franke, C., Roberts, M., Willison, H., Vincent, A., Newsom-Davis, J., Morrison, K. E., Damels, R., Francis, M., Campbell, L., Davies, K. E., Kohler, W., Bucka, C., Hertel, G., Kanovsky, P., Auer, D., Ackermann, H., Klose, U., Naegele, Th., Bien, S., Voigt, K., Fink, G. R., Stephan, K. M., Wise, R. J. S., Mullatti, N., Hewer, L., Frackowiak, R. S. J., Weiller, C. S., Rijnites, M., Jueptner, M., Bauermann, T., Krams, M., Diener, H. C., van Walderveen, M. A. A., Barkhof, F., Hommes, O. R., Valk, J., Willmer, J. P., Guzman, D. A., Passingham, R. E., Silbersweig, D., Ceballos-Baumann, A., Frith, C. D., Frackowiak, R., Lucas, C. H., Goullard, L., Marchau, M. J., Godefroy, O., Rondepierre, P. H., Chamas, E., Mounier-Vehier, F., Leys, D., Renato, J., Verdugo, M. S. C., Campero, M., Jose, L., Ochoa, D. S. C., Vivancos, F., Tejedor, E. Diez, Martinez, N., Roda, J., Frank, A., Barreiro, P., Satoh, Y., Nagata, K., Maeda, T., Hirata, Y., YalÇinerner, B., Ozkara, C., Ozer, F., Ozer, S., Hanoglu, L., Zunker, P., Pozo, J. L., Oberwittler, C., Schick, A., Buschmann, H. -Ch., Ringelstein, E. Bernd, Lara, M., Anzola, G. P., Magoni, M., Volta, G. Dalla, Tarasov, A., Feigin, V., Beaudry, M. G., Carrier, S., Chicoutimi, Henriques, I. L., Bogoussslavsky, J., van Melle, G., Mathieu, J., Perusse, L., Allard, P., Prevost, C., Cantin, L., Bouchard, J. M., De Braekeleer, M., Agbo, C., Neau, J. P., Tantot, A. M., Dary-Auriol, M., Ingrand, P., Gil, R., Baltadjiev, D., Zekin, D., Sabey, K., Gennaula, C. P., Pope, B. A., Caparros-Lefebvre, D., Girard-Buttaz, I., Pruvo, J. P., Petit, H., Hipola, D., Martin, M., Giménez-Roldan, S., Ivanez, V., Japaridze, G., Carrasco, J. L., Picomell, I., Herranz, J. L., Macias, J. A., Nieto, M., Noya, M., Oller, L., Kiteva-Trencevska, G., Delgado, M. R., Liu, H., Luengo, A., Parra, J., Colas, J., Fernandez, M. J., Manzanares, R., Kornhuber, M. E., Malashkhia, V., Orkodashili, G., Martinez, M., Bonaventura, I., Porta, G., Martinez, I., Fernandez, A., Aguilar, M., Masnou, P., Drouet, A., Dreyfus, M., Cartron, J., Morel-Kopp, M. C., Tchernia, G., Kaplan, C., Lammers, M. W., Hekster, Y. A., Keyser, A., Meinardi, H., Renier, W. O., Boon, P. A. J. M., Have, M. D., Kint, B., Cruz, P., Cadilha, A., Almeida, R., Goncalves, M., Pimenta, M., Ramos, L. M. P., Polder, T. W., Broere, C. A., Polman, L., Rother, I., Rother, M., Schlaug, G., Arnold, S., Holthausen, H., Wunderlich, G., Ebner, A., Luders, H., Witte, O. W., Seitz, R. J., Serra, L. L., Gallicchio, B., Rotondi, F., Wieshmann, U., Meierkord, H., Sabev, K., Di Carlo, V., Gueguen, B., Derouesné, Ch., Ancri, D., Bourdel, M. C., Guillou, S., Aliaga, R., Chornet, M. A., Rodrigo, A., Pascual, A. Pascual -Leone, Catala, M. D., Pascual-Leone, A., Benbadis, S. R., Dinner, D. S., Chelune, G. J., Lüders, H. O., Piedmonte, M. R., Blanco, T., Lopez, M. P., Romero, B., Deltoro, A., Pascual, A., Pascual, Leone, Bolgert, F., Josse, M. O., Tassan, P., Touze, E., Laplane, D., Godenberg, F., Brizioli, E., Del Gobbo, M., Pelliccioni, G., Scarpino, O., Durak, H., Damlacik, G., Tunca, Z., Fidaner, H., Yurekli, Y., Yemez, B., Kaygisiz, A., Anllo, E. A., Esperet, E., Giovagnoli, A. R., Casazza, M., Spreafico, R., Avanzini, G., Mascheroni, S., Vecchio, I., Tornali, C., Antonuzzo, A., Grasso, A. A., Bella, R., Pennisi, G., Raffaele, R., Broeckx, J., Schildermans, F., Hospers, W., Deberdt, W., Carney, J. M., Aksenova, M., Chen, M. S., Juncadella, M., Busquets, N., De la Fuente, I., Rodriguez, A., Rubio, F., Soler, R., Khati, C., Pillon, B., Deweer, B., Malapani, C., Malichard, N., Dubois, B., Rancurel, G., Lopez, D. L., Jungreia, G., DeKosky, S. T., Boiler, F., Weiller, C., Rijntjes, M., Mueller, S. P., Maguire, E. A., Burke, E. T., Staunton, H., Phillips, J., Rousseaux, M., Pena, J., Bertran, I., Santacruz, P., Lopez, R., Catafau, A., Lomena, F., Blesa, R., Rampello, L., Nicoletti, A., Cabaret, M., Lesoin, F., Steinling, M., Tournev, I., Maier-Hauff, K., Schroeder, M., Wolf, A., Cochin, J. P., Noel, I., Augustin, P., Auzou, P., Hannequin, D., Maria, V., Lopez-Bresnahan, Danielle, D. M., Antin-Ozerkis B. A., Bartels, E., Rodiek, S. O., Flugel, K. A., Campos, D. M., Salas-Puig, J., Del Rio, J. Sanhez, Vidal, J. A., Lahoz, C. H., Eraksoy, M., Barlas, O., Barlas, M., Bayindir, C., Ozcan, H., Birbamer, G., Gerstenbrand, F., Felber, S., Luz, G., Aichner, F., Seidel, G., Kaps, M., Hutzelmann, A., Gerriets, T., Kruggel, F., Martin, P. J., Gaunt, M. E., Abbot, R. J., Naylor, A. R., Meary, E., Dilouya, A., Meder, J. F., De Recondo, J., Lebtahi, R., Neff, K. W., Meairs, S., Viola, S., Matta, E., Aquilone, L., Rise, I. R., Authier, F. J., Kondo, H., Ghnassia, R. T., Degos, J. D., Gherardi, R. K., Bardoni A., Ciafaloni E., Comi G. P., Bresolin N., Robotti M., Moggio M., Rigoletto C., Roses A., Scarlato G., Castelli, E., Turconi, A., Bresolin, N., Perani, D., Felisari, G., Chariot, P., de Pinieux, G., Astier, A., Jacotot, B., Gherardi, R., Fischer-Gagnepain, V., Louboutin, J. P., Crespo, F., Florea-Strat, A., Fromont, G., Sabourin, J. -C., Gonano, E. -F., Moroni, I., Prelle, A., Iannaccone, S., Quattrini, A., deRino, F., Sessa, M., Golzi, V., Smirne, S., Nemni, R., Turpin, J. C., Lucotte, G., Jacobs, S. C. J. M., Willems, P. W. A., Bootsma, A. L., Lasa, A., Calaf, M., Baiget, M., Gallano, B., Fichter-Gagnepain, V., Mazzucchelli, F., D'Angelo, M. G., Velicogna, M., Bet, L., Comi, G. P., Bordoni, A., Gonano, E. F., Bazzi, P., Rapuzzi, S., Moggio, M., Fagiolari, G., Ciscato, P., Messina, A., Battistel, A., Ryniewicz, B., Sangla, I., Desnuelle, C., Paquis, V., Cozzone, P. J., Bendahan, D., Sturenburg, H. J., Kohncke, G., Castellli, E., Linssen, W., Stegeman, D., Binkhorst, R., Notermans, S., Jaspert, A., Fahsold, R., de Munain, A. Lopez, Cobo, A., Martorell, L., Poza, J. J., Navarrete Palau, D., Emparanza, J. I., Sanchez-Roy, R., Vilchez, J. J., Hernandez, M., Tena, J. Garcia, Perla, C., Koutroumanidis, M., Papathanasopoulos, P., Papadimitriou, A., Papapetropoulos, T. H., Divari, R., Hadjigeorgiou, G. M., Anastasopoulos, I., Sansone, V., Rotondo, G., Meola, G., Rigoletto, C., Messina, S., Szwabowska-Orzeszko, E., Jozwiak, S., Michalowicz, R., Szaplyko, W., Petrella, M. A., Della Marca, G., Masullo, G., Mennuni, G. F., Kompf, D., Wascher, E., Verleger, R., Kaido, M., Soga, F., Toyooka, H., Bayon, C., Rubio, J., Carlomagno, S., Parlato, V., Santoro, A., Lavarone, A., Bonavita, V., Pentore, R., Venneri, A., Pasquier, F., Lebert, F., Grymonprez, L., Lefebvre, C., Van der Linden, M., Derouesné, C., Renault, B., Lacomblez, L., Homeyer, P., Ouss, L., Neuman, E., Malbezin, M., Barrandon, S., Guez, D., Stevens, M., van Swieten, J. C., Franke, C. L., Sanchez, A., Castellvirel, S., Mila, M., Jimenez, D., Pallesta, F., Ruiz, P. J. Garcia, Barrio, A., Barroso, T., Benitez, J., de Yebenes, J. Garcia, Manubens, J. M., Martinez-Lage, J. M., Larumbe, R., Muruzabal, J., Lacruz, F., Quesada, Pedro, Gallego, J., Ferini-Strambi, L., Marcone, A., Garancini, P., Tedesi, B., Jacob, B., Rozewicz, L., Langdon, D., Davie, C., Ron, M., Thompson, A., Koepp, M. J., Hansen, M. L., Guldin, B., Pressler, R. M., Ried, S., Scholz, C., Monaco, F., Gianelli, M., Schiavalla, M. P., Naldi, P., Cantello, R., Torta, R., Verze, L., Mutani, R., Knott, H., Ferbert, A., Schulze-Bonhage, A., Aust, W., Di Mascio, R., Marchioli, R., Vitullo, F., Di Pasquale, A., Sciulli, L., Kramer, V., Tognoni, G., Santacruz, P., Lopez, R., Marti, M. J., Charques, I., Catafau, A., Lomeila, F., Peila, J., Bertran, I., Blesa, R., Krendel, D. A., Costiga, D. A., Koeppen, S., Korn, W. M., Brugge, S., Schmitz, D., Scheulen, M. E., King, R. H. M., Robertson, A. M., Thomas, P. K., Kerkhofs, A., Vermersch, P., Dereeper, O., Daems Monpeun, C., Parent, M., Deplanque, D., Petit, H., Campero, M., Serra, J., Ochoa, J. L., Martinez-Matos, J. A., Montero, J., Olivé, M., Rene, R., Vidaller, A., Gugenheim, M., Gouider, R., Le Guern, E., Brice, A., Agid, Y., Bouche, P., Grisold, W., Ziflo, U., Drlicek, M., Budka, H., Jellinger, K., Zielinski, C. H., Ginsberg, L., King, R. H. M., Workman, J., Platts, A. D., Thomas, P. K., Gherardi, R. K., Florea-Strat, A., Poron, F., Sabourin, J. -C., Fazio, R., Nemni, R., Franceschi, M., Lorenzetti, I., Rinaldi, L., Canal, N., Weilbach, F. X., Sennlaub, A., Jung, S., Gold, R., Toyka, K. V., Hartung, H. P., Giegerich, G., Ellie, E., Vital, A., Steck, A. J., Vital, C., Julien, J., Doneda, P., Pizzul, S., Scarpini, E., Chiodi, P., Ramacci, M. T., Livraghi, S., Maimone, D., Annunziata, P., Salvadori, C., Guazzi, G. C., Arne-Bes, M. C., Delisle, M. B., Fabre, N., Hurtevent, J. F., Bes, A., Baudoin-Martin, D., Laborde, E., Viallet, F., Creisson, C., Crespi, V., Bogliun, G., Marzorati, L., Zincone, A., D'Angelo, L., Liberani, A., Merlini, M., Rivolta, R., Creange, A., Sabourin, J. -C., Theodorou, I., Gherardi, R. K., Conti, A. M., Malosio, M. L., Baron, P. L., Scarlato, G., Chorao, R., Rosas, M. J., Leite, I., Callea, L., Donati, E., Bargnani, C., Bud, M., Verdu, E., Navarro, X., Braun, S., Einius, S., Poindron, P., Warier, J. M., Bradley, J., Bekkelund, S. I., Torbergsen, T., Mellgren, S. I., Carlomagno, S., Parlato, V., Santoro, A., Lavarone, A., Boller, F., Bonavita, V., Engelhardt, A., Lörler, H., Robeck, S., Kluglein, C., Comi, G., Avoledo, V., Locatelli, T., Leocani, L., Galardi, G., Magnani, G., Medaglini, S., Chkhikvishvili, T. S., Zangaladze, A., Bratoeva, M., Kovachev, P., Chavdarov, D., Artemis, N., Karacostas, D., Milonas, I., Arpa, J., Lopez-Pajares, R., Cruz-Matinez, A., Sarria, J., Palomo, F., Alonso, M., Rodriguez-Al-barino, A., Lacasa, T., Nos, J., Barreiro, P., Martinez, A. Cruz, Villoslada, C., Alons, M., Taghavy, A., Hamer, H., Kratzer, A., Dethy, S., Pauwels, T., Monclus, M., Luxen, A., Goldman, S., Ziegler, M., Crambes, O., Ragueneau, I., Arnaud, F., Zappia, M., Montesanti, R., Colao, R., Palmieri, A., Branca, D., Nicoletti, G., Rizzo, M., Parlato, G., Quattrone, A., Vanacore, N., Zuchegna, P., Bonifati, V., Meco, G., Scholz, J., Friedrich, H. -J., Rohl, A., Ulm, G., Vieregge, P., Savettieri, G., Rocca, W. A., Meneghini, F., Grigoletto, F., Morgante, L., Reggio, A., Salemi, G., Di Pierri, R., OzckmekÇi, S., Ertan, S., Yeni, N., Apaydin, H., Erkol, G., Kiziltan, G., Denktas, F., Ranoux, D., de Recondo, J., Ostergaard, L., Werdelin, L., Odin, P., Lindvall, O., Dupont, E., Christensen, P. B., Boisen, E., Jensen, N. B., Schmiegelow, M., Ingwersen, S. H., Matias-Guiu, J., Canet, T., Falip, R., Martin, R., Galiano, L., Voloshin, M. Y., Burchinskaya, L. F., Cabrera-Valdivia, F., Jimenez-Jimenez, F. J., Molina, J. A., Fernandez-Calle, P., Vazquez, A., Canizares-Liebana, F., Larumbe-Lobalde, S., Ayuso-Peralta, L., Rabasa, M., Codoceo, R., Arrieta, F. J., Aguilar, M. V., Jorge-Santamaria, A., Martinez-Para, M. C., Alarcon, J., Mateo, D., Gimenez-Roldan, S., Gencheva, E., Tzonev, T. z., Georgiev, G., Petkova, P., Gasparini, M., Vanacore, N., Meco, N. G., de la Sierra, G., Aguado, F., Revilla, M., Varela, L., Rico, H., Feve, A., N'Guyen, J. P., Bathien, N., Fenelon, G., Veroust, J., Cesaro, P., Egersbach, G., Hattig, H., Schelosky, L., Wissel, J., Poewe, W., Durif, F., Albuisson, E., Debilly, B., Tournilhac, M., Magnani, C., Mocellini, C., Soffietti, R., Schiffer, D., Cardozo, A., Cruz-Sanchez, F. F., Falip, L., Potagas, G., Ziegler, M., Rondot, P., Bonifati, V., Fabrizio, E., Meco, G., Bostantjopoulou, S., Katsarou, Z., Kyriazis, G., Baas, H., Demisch, L., Esser, A., Zoeller, F., Burklin, F., Harder, S., Fischer, P. A., Arcusa, M. J., Hermandez, S., Claramonte, F. J., Pascual, A. Pascual- Leone, Alonso, M. D., Catata, M. D., Alessandri, A., Giustini, P., Dufour, A., Ciusani, E., Nespolo, A., Roelcke U., Radu E. W., von Ammon K., Maguire R. P., Leenders K. L., Radionova, M., Chavdarov, D., Bratoeva, M., Tzekov, Ch., Pietrangeli, A., Bove, L., Pace, A., Falqui, L., Jandolo, B., Potemkowski, A., Muller B., Reinhard I., Krone A., Warmuth M., Brocker E. M., Krauseneck P., Meyding-Lamadé, U., Krieger, D., Sartor, K., Hacke, W., Maugard-Louboutin, C., Fayet, G., Sagan, C., Martin, S., Ménégalli, D., Lajat, Y., Resche, F., Koriech, O. M., Al Moutaery, K., Yaqub, B., Jochens, R., Wolters, A., Venz, S., Cordes, M., Hecht, B. K., Chatel, M., Gaudray, P., Turc-Carel, C., Gioanni, J., Ayraud, N., Hecht, F., Rumbach, L., Racadot, E., Bataillard, M., Billot, M., Pariset, J., Wijdenes, J., Montalban, Rio J., Tintoré, M., Galan, I., Acarin, N., Rapaport, S., Huberman, M., Shechtcr, D., Karabudak, R., Kilinc, M., Boyacigil, S., Cila, A., Polo, J. M., Setien, S., Sanchez, R., Figols, J., Zubimendi, A., Nadareishvili, Z. G., Massot, R., Marés, R., Gallecho, F., Richart, C., Hernandez, M. A., Garcia, M. R., Lorenzo, J. N., Leon, C., Muros, M., Togores, J., Kutluk, K., Damlacik, G. A., Tekinsoy, B., Obuz, O., Baklan, B., Idiman, E., Genc, K., Zielasek, J., Schmidt, B., Liew, F. Y., Gulay, Z., Yulug, N., Wong, K. S., Wong, T. W., Yu, T. S., Kay, R., Poupon, R., Giral, P., Roberti, C., Zanette, E. M., Chiarotti, F., Brusa, L., Cerbo, R., Prusinski, A., Pondal, M., Canton, R., Dominigo, Erodriguez J., Pereira Monteino J. M., Pereira Monteino X., Pardo, J., Carroacedo, A., Barros, F., Lema, M., Castillo, J., Melchor, A., Montiel, I., Guiu, J. Matias, Kloss, T. M., Keidel, M., Jacob, M., Idiman, F., Idman, E., Ozturk, V., Metin, E., Yilmaz, M., Gerard, J. M., Bouton, R., Decamps, D., Herbaut, A. G., Delecluse, F., Cavenaile, M., Divano, L., Chazot, G., Boureau, F., Emile, J., Bertin, L., d'Allens, H., Ferro, J. M., Costa, I., Carletto, F., Catarci, T., Padovani, A., Iandolo, B., Bartoli, M., Bonamini, M., Pulcinelli, F., Pignatelli, P., Russo, M., Gazzaniga, P. P., Barros, J., Pinheiro, J., Correia, A. P., Monteiro, J. M. Pereira, Alvarez-Cermeno, J. C., Avello, G., Sastre, J. L., Vecino, A., Cesar, J. M., Leone, M., Stankov, B., D'Amico, D., Maltempo, C., Moschian, F., Fraschini, F., Bussone, G., Molto, J. M., Fernandez, E., Fernandez, A. Morento, Barreiro, A., Siclia, J., Castejon, P., Mihout, B., Malberin, M., Salzman, V., Bogousslavsky, J., Meneghetti, G., Baracchini, C., Bozzato, G., Marini, B., Mendel, T., Czlonkowska, A., Pasierski, T., Szwed, H., Marta-Moreno, J., Lopez-Delval, J., Mostacero, E., Morales, F., Mahagne, M. H., Rogopoulos, A., Bertrand, F., Bedoucha, P., Lanteri-Minet, M., Riva, D., Zorzi, C., Milani, N., Vajsar, J., Ronen, G., Macgregor, D., Becker, L., Susseve, J., Seidl, Z., Faber, J., Obenberger, J., Springer, R., Bax, R. T., Eckardt, T., Czettritz, G. V., Emmrich, P., Vlaski-Jekic, S., Petrova, V., Cherninkova, S., Gudeva, T., Tzekov, C., Devoti, M., Franceschetti, S., Mientus, S., Vienna, P., Vashtang, Y., Tazir, M., Assami, S., Oulbani, D., Kaci Ahmed, M. Ait, Andersen, G., Vestergaard, K., Riis, J. O., Chavdarov, D., Corbo, M., Previtali, S., Allen, R. R., McKay, W. C., Rowbotham, M. C., Castellvi-Pel, S., Banchs, I., Kruyer, H., Corral, J., Saugeir-Veber, P., Munnich, A., Bonneau, D., Rozet, J. M., Le Merrer, M., Boespflug-Tanguy, O., Gokyigit, A., Oktem, O., Demir, G., Caliskan, A., Gardiner, R. M., Shorvon, Simon, Wieser, Heinz -Gregor, Hossmann, K. A., Steinberg, A., van Crevel, H., Ducros, A., Labauge, P., Pinsard, N., Ponsot, G., Gouttiere, F., Gastaut, J. L., Delrieu, O., BesanÇon, V., Klopstock, T., May, A., Seibel, P., Papagiannuli, E., Reichmann, H., Gurses, C., Aykut, C., Aktan, S., De Vuono, G., Fiacco, F., Gazzaniga Pozzill, P. P., Assuerus, V., Jacomet, C., Picard, O., Rozenbaum, W., Nueckel, M., Osschmann, P., Horning, C. R., Caldarelli-Stefano, R., Omodeo-Zorini, E., Rivolta, G. E., Maserati, R., Cagni, A., Ferrante, P., Lamadé, W., Heb, Th., Gosztonyl, G., Daral, G., Fresquet, C., Storch-Hagenlocher, B., Wildemann, B., Jager, G., Fuhry, L., Van Paesschen, W., Grunewald, R. A., Duncan, J. S., Connelly, A., Jackson, G. D., Sisodiya, S., Raymond, A. A., Shorvon, S. D., Fish, D. R., Stevens, J. M., Savic, I., Pauli, S., Thorell, J. O., Browne, R. H., Kornhuber, J., Retz, W., Riederer, P., Boon, F., Calliauw, L., Hoksergen, I., Thiery, E., Caemert, J., Decoo, D., Desomer, A., Chevalier, Y., Grinspan, A., Hirsch, E., Moszkowski, J., Marescaux, C., Yaqub, B. A., Valdueza, J. M., Puchner, M. J. A., Dammann, O., Vortmeyer, A., Herrmann, H. -D., Peterson, W., Prevett, M. C., Cunningham, V., Brooks, D. J., Pomes, A., Sunol, C., Durwen, H. F., Confavreux, Ch., Grimaud, J., Saddier, P., Moreau, T., Cortinovis-Tourniaire, P., Aimard, G., Adeleine, P., Paty, D. W., Wiles, C. M., Midgard, R., Riise, T., Kvale, G., Nyland, H., Stodal, H., Haase, A., Lassmann, H., Deeb, S. M. Al., Bruyn, G. W., Semana, G., Teisserenc, H., Alizadeh, M., Loiseau, P., Birebent, B., Yaouanq, J., Genetet, B., Sabouraud, O., Charron, D. J., Shaw, C. E., Stelmasiak, C., Solski, J., Nowicki, J., Jakubowska, B., Ryba, M., Grieb, P., Garcia-Merino, A., Usuku, K., Yunis, E., Alper, C., Hauser, S. L., Betuel, H., Gebuhrer, L., Salier, J. P., Kellar-Wood, H., Govan, G. G., Bromberg, J. E. C., Rinkel, G. J. E., Algra, A., Moulin, T., Stojkovic, T., Chavrot, D., Klotzsch, C., Kaiser-Rub, K., Nahser, H. C., Klijn, C. J. M., Tulleken, C. A. F., Rappelle, L. J., Daffertshofer, M., Kother, J., Hornig, C. R., Rust, D. S., Busse, O., Laun, A., Corabianu, O., Berbinschi, A., Chastang, C., Cophignon, J., Haguenau, M., Ketelslegers, J. M., Jander, S., Kramer, M., Schröter, M., Witte, O. W., Stoll, G., Möbner, R., Barak, V., Sarova-Ponchas, I., Holon, Le Coz, P., Woimant, F., George, B., Merland, J. J., Chleide, E., Casademont, J., Barrientos, A., Cardellach, F., Cervantes, F., Grau, J. M., Montoya, J., Rozman, C., Urbano-Marquez, A., Nunes, V., Lane, R. J. M., Archard, L. C., Schapira, A. H. V., Cooper, J. M., Barnes, P. R. J., Kemp, G. J., Taylor, D. J., Toscano, A., Garavaglia, B., Vita, G., Rodolico, C., Aguennouz, M., Messina, C., Mariottu, C., Uziel, G., Carrara, F., Mora, M., Zeviani, M., Mahe, B., Milpied, N., Bernasconi, P., Torchiana, E., Simoncini, O., Dalakas, M. C., Goebels, N., Michaelis, D., HÄcker, G., Ptacek, L., Gonzalez, A., Sevilla, T., Diaz, C., Baggi, F., Andreetta, F., Bielicki, G., Tanguy, A., Zanca, M., Renou, J. P., De Deyn, P. P., Marescau, B., Pickut, B. A., Cobo, A. M., Emparanza, J. L., Munain, A. Lopez de, Marti-Masso J. F., Ciafalon, E., Bardoni, A., Fortunato, F., Garghentino, R., Roses, A., Metz-Lutz, M. N., Coquerel, A., Pfaff, F., Dussallant, M., Gaudriault, G., Zsurger, N., Le Cam-Duchez, V., Berod, A., Vincent, J. P., Tayot, J., Rostene, W., Giraud, G., Minault, C., Vallée, J., Cailloux, F., Law, L., Paulson, O. B., Britton, T. C., Dones, I., Servello, D., Molteni, F., Mariani, G., Broggi, G., Hassan, S. M., Jennekens, F. G. I., Wieneke, G., Veldman, H., Fritz, C., Braune, H. -J., Sullivan, E. P. O., Jenkins, I. H., Henderson, L., Kennard, C., Brunholzl, Ch., Calvet, J. Pascual, Insa, Jm. Soler, Serradell, A. Pou, Coria, F., Rubio, I., Garcia, M. A., Duarte, J., Sempere, A. P., Claveria, L. E., Blanco, I., Ferrarini, M., Testa, D., Cazzaniga, C., Farinotti, M., Filippini, G., Hawkes, C. H., Graham, A., McDonald, A., Chroni, E., Heatley, F. W., Spencer, G. T., Moulard, B., Camu, W., Dhib, M., Diaye, M. N., Malafosse, A., Meininger, V., Billiard, M., Baldy-Moulinier, M., Léger, J. M., Harpin, M. L., Willison, H. J., Veitch, J., Herron, B., AlMemar, A., Reiners, K., Michels, M., Hughes, R. A. G., Heidenreich, F., Archelos, J. J., Uchuya, M., Graus, F., Feltri, L., Scherer, S. S., Wrabetz, L., van Schaik, I. N., Vermeulen, M., Brand, A., Tekin, S., Afsar, N., Sarropoulos, A., (née Schönbeck), S. Spuler, Schönhuber, R., Espadaler, J. M., Fardeau, M., Pino, I. M., Diez Tejedor, E., Rio, F. Garcia, Prados, C., Gomez, L., Munoz, J., Bouchard, C., Barrett, M. J., Coulton, G. R., Casadevall, J., Sala, R. Alvarez, Garcia, J. M. Pino, Dupuis, M. J. M., Mezt, R., Jean, D., Maes, E., Smits, R. C. F., Emmen, H. H., Kulig, B. M., van Loenen, A. C., de Waal, R., van Diemen, H. A. M., Koetsier, J. C., Ince, D., Ferri, R., Durelli, L., Bangioanni, M. R., Ferrero, B., Riva, A., Bergaasco, B., Stenager, E., Stenager, E. N., Jensen, K., De Andres, C., Anaya, F., Dimova, V., Hansen, A. W., Norby, S., Edal, A. L., Rosenberg, T., Thorpe, J. W., Filippi, M., Horsfleld, M. A., Reganati, P., Baratti, C., Bressi, S., Ozurk, V., Yeil, S., Rodegher, M., Sirabian, G., Alberoni, M., Eoli, M., La Mantia, L., Manetti, E., Zaffaroni, M., Milanese, C., Corsini, E., de Castro, P., Carreno, M., Iriarte, J., Heide, W., Barado, J., Echaniz, P., Cuadrado, E., Baykan-Kurt, B., Oktem-Tanor, O., Bahar, S., Konyalioglu, R., Tumac, A., Gok, S., Gurvit, H., Gursoy, G., Henderson, C. E., Westarp, M. E., Perron, H., Hoff-Jörgensen, R., Rasmussen, H., Schraff, S., Kornhuber, H. H., Moseley, I. F., Colangelo, A. M., Fetoni, V., Parati, E., Austoni, L., DiGiovanni, A., Meucci, N., Nobile-Orazio, E., Scarlato, G., Goi, G., Lombardo, A., Bairati, C., Aversa, E., Caputo, D., Ferrarese, C., Canafoglia, L., Frigo, M., Pecora, N., Riva, R., Frattola, L., Carpo, M., Gamba, M., Meussi, N., Barbieri, S., Ostermeyer, B., Patten, B. M., Abeta, S., Inoue, N., Matsui, H., Yoshino, Y., Pizzi, C. Delli, Ragno, M., Losseff, N. A., Fletcher, N. A., Thorpe, J., Droogan, A. G., Harper, R., Hawkins, S. A., Patterson, V. H., Bell, P., Soeterboek, A. A. J., Koehler, P. J., Urtasun, M., Vilchez, J., Castel-lvi-Rel, S., Gine, R., Villa, M., Koehler, W., Kumar, A. J., Edwin, D., Moser, H. W., Guidetti, D., Ferlini, A., Motti, L., Bondavalli, M., Patrosso, M. C., Ghidoni, E., Alfaro, A., Giros, M. L., Barcelo, A., Piqueras, A., Martinez, V., Rango, M., Bamonti, F., Greco, F., Spagnoli, D., Tomei, G., Zetta, L., Honczarenko, K., Jezewski, T., Kojder, I., Verlooy, J., Reempts, Jos V., Deuren, B. V., Borgers, M., Gajda, J. U., Ley-Pozo, J., Louwen, P., Happe, S., Buschmann, H. C., Ringelstein, E. B., Yamawaki, T., Takao, M., Suzuki, N., WeilBenborn, K., Schellong, S., Ehrenheim, C., Wollenhaupt, J., Goetz, C., Lubach, D., Vion-Dury, J., Nicoli, F., Confort-Gouny, S. O., Dhiver, C. O., Lamoureux, S., Salvan, A. M., Gastaut, J. -A., Gastaut, J. -L., Cozzone, P., Ribalta, T., Santamaria, J., Drewes, A. M., Taagholt, S. J., van den Berg, J. S. P., Limburg, M., Valldeoriola, F., Valls-Solé, J., Marti, M. J., Trenkwalder, C., Stiasny, K., Collado-Scidel, V., Wetter, T., Kazenwadel, J., Kohnen, R., Ramm, S., Oertel, W. H., Thajeb, P., Starck, M., Albrecht, H., Pollmann, W., Konic, N., Split, W., Sulkowski, W., Kowalska, S., Sawradewicz-Rybak, M., Musior, M., Scaioli, V., Brock, S., Ciano, C., Palazzini, E., Servan, J., Aoba, S., Yamaguchi, S., Johkura, K., Rosin, L., Solimena, M., De Camilli, P., Meinck, H. -M., Roquer, J., Marti, N., Cano, A., Pou-Serradell, A., Robeck, S., Enqelhardt, A., Kalden, J. R., Dhaenens, G., Tyrdal, S., Broere, C. A. J., Polman, L. J., Gomez, R., Alberdi, M., Delgado, J. M., Kansu, E., Saribas, O., Zileli, T., Proust, F., Freger, P., Creissard, P., Proano, J., Patrignani, J., Castro, J., Ugarte, A., Giros, Ma. L., Pampols, Ta., Sabev, C., Gikova, S., Antonova, N., Georgieva, L., Stanev, V., Popova, G., Kostadinova, S., Pepeliarska, M., Pierre-Jerome, C., Bekkelund, S. I., Husby, G., Mellgren, S. I., Attaccalite, A., Guidi, M., Passero, S., Caruso, V., HÄgele, J., Lohmeyer, J., Heilmann, M., Ohly, A., Ceballos-Baumann, A. O., Joussen, K., Sonka, K., Chave, B., Confort-Gouny, S., Houallah, T., Neundoerfer, B., Tex, S., Seeber, C., Mokrusch, T., Urdiain, T. X. Arbizu, Yelamos, S. M., Villanueva, P., Serra, J. Peres, Braghi, S., Bonifacio, E., Natali-Sora, M. G., Debbink, Y. N., Marra, T. R., Mossman, S., Timmings, P., Seitz-Dertinger, S., Solbach, W., Mainz, A., Manfredini, E., Calabrese, E., Allaria, S., Mariani, C., Sinaki, M., Lynn, S., Westerlind, K., Ossege, L. M., Voss, B., Wiethege, Th., Sindern, E., Malin, J. p., Le Doze, F., Chapon, F., de la Sayette, V., Schaeffer, S., Dary, M., Lechevalier, B., Viader, F., de Pommery, J., Weill-Fulazza, J., Menetrey, M., Lazzarino, L. G., Nicolai, A., Nappo, A., Blin, J., Mazetti, P., Mazoyer, B., Ayed, S. Ben, Rivaud, S., Vidailhet, M., Pierrot-Deseilligny, C., Chase, T., Jordan, K. G., Gergaud, J. M., Breux, J. P., Roblot, P., Grollier, G., Giraudon, B. Becq, Dobato, J. L., Gilabert, Y. Perez, Blanco, J. L. Munoz, de Kruijk, J., Twijnstra, A., Wilmink, J., Leffers, P., Iniguez, C., Jimenez-Escrig, A., Nocito, M., Villar, M. L., Gonzalez-Porque, P., Gobernado, J. M., Chandler, H. C., Crockard, H. A., Henderson, F., Rossi, T., Maidani, M., Pujol, A., Rimola, A., Beltran, J., Garcia-Valdecasas, J. C., Navasa, M., Grande, L., Galofre, J., Visa, J., Rodes, J., Ruiz, M., Pampols, T., Bruce, L., Tanner, M. J. A., Lefaucheur, J. P., Verroust, J., Taghavy, A., Hamer, H., Benomar, A., Cancel, G., Stevanin, G., Durr, A., Labaune, C., Desnizza, V., Widjaja-Cramer, B., Schulze-Bonhage, A., Kott, H., Ferbert, A., Sanz-Sebastian, C., Pascual, L. F., Alegria, F. Abad, Kushnir, M., Groozman, G. B., Korczyn, A. D., Drory, Ve., Korczyn, A., Guggenheim, H., Baykouchev, St., Struppler, A., Tchalucova, N., Jotova, J., Mokri, B., Parisi, J. E., Scheithauer, B. W., Piepgras, D. G., Miller, M., Kornhuber, A. W., Köhler, A., Hülser, P. J., Kriebel, J., Alonso-Villaverde, C., Castro, A., Masana, L., Urda, A. Martin, Fernandez, J., Mares, R., Torre, L., Mayayo, E., Lossos, A., Gomori, M., Libson, E., Goldfarb, A., Seigal, T., de Louw, A., Praamstra, P., Horstink, M., Cools, A., Tarrats, E. Basart, Calopa, M., Martinez, S., Ballabrina, J., Taussig, D., Marion, M. -H., Mallecourt, J., Ranoux, D., Gasser, T., Kabus, C., Ozelius, L., Wenzel, R., Breakefield, X. O., Boot, H., Poublon, R. M. L., Bogaard, J. M., GinaÏ, A. Z., Cabezas, C., Scholz, J., Nitschke, N., Vieregge, P., Wirk, B., Hochberg, F. H., Hefter, H., Kessler, K., Wirrwar, A., Stocklin, G., Tournier-Lasserves, E., Agundez, J. Garcia, Ruiz, E., Li, X. P., Hedlund, P. B., Fuxe, K., Kulisevsky, J., Avila, A., Berthier, M. L., Gerard, J. -M., Cambier, J., Caucheteur, C., Deuschl, G., Köster, B., Scheidt, C., Lücking, C. H., Mena, M. A., Chedru, F., Oubary, P., Rondot, P., Anagnostou, C. N., Panagopoulos, C. P., Ziogas, D. E., Vermersch, P., Robitaille, Y., Gauvreau, D., Destée, A., Delacourte, A., Ficola, U., Marozzi, P., Piccoli, F., Janelidze, M., Shakarishvili, R., Gagoshidze, T., Vashadze, T., Tsiskaridze, A., Djannelidze, M., Trullen, J. M. Perez, Pardo, P. J. Modrego, Vazquez-Andre, M. L., Bail, L., Naccache, L., Gauvrit, J. L., Panisset, M., Boller, A. F., Giannini, M., Zanette, E., Di Cesare, S., Altieri, M., Maloteaux, J. M., Delwaide, C., Sciaky, M., Newman, S. K., Kennedy, A. M., Frackowiack, R. S. J., Warrington, E. K., Rossor, M. N., Martinez-Lage, Pablo, Martinez Lage, J. Manuel, Manubens, JosÇ M., Lacruz, Francisco, Larumbe, Rosa, Muruzabal, Javier, Locatelli, T., Cursi, M., Mauri, M., Liberati, D., Fornada, C., Iriarte, L. M., Lopez, M., Grilo, A., Repeto, M., Brasic, J. R., Barnett, J. Y., Sheitman, B. B., Young, J. G., Shalit, F., Brodie, C., Sredni, B., Engelien, A., Stern, E., Huber, W., Frith, C., Miralles, F., Albadalejo, M. D., Antem, M., Pastor, I., Estelies, M. A., Del Ser, T., Ochoa, H. Severo, Munoz, D., Hachinski, V., Cucinotta, D., Senin, U., Girardello, R., Crepaldi, G., Croria, F., Schens, D. B., Vigo-Pelfrey, C., SempereE, A. P., Ortega, M. P., Bava, L., Magni, E., Aronovich, B. D., Treves, T. A., Bornstein, N. M., Van Blercom, N., Blecic, S., Violon, Ph., Hildebrand, J., Zamboni, M., Ambrosoli, L., Poli, A., Kuehnen, J., Tilgner, C., Raltzig, M., Moering, B., Faiss, J., Deeb, S. M. Al, Daif, A., Sharif, H., Tatay, J., Caroeller, F., Avendano, C., Vinogradova, T., Pinto, A. N., Canhao, P., Neau, J. -Ph., Pacquereau, J., Meurice, J. -C., Schwab, M., Bauer, R., Deeb, M. AL, Tjan, T. J., Aabed, M., Berges, S., Crepin-Leblond, T., Chavot, D., Cattin, F., Snidaro, M. H., Chopard, J. L., Ley, C. Oliveras, Alameda, F., Alfonso, S., Podobnik-Sarkanji, S., Pniewski, J., Torbicki, A., Mieszkowski, J., Plaza, I., Petrunjashev, V., Velcheva, I., Hadjiev, D., Yancheva, S., Petrov, L., Karakaneva, S., Petkov, A., Nikolov, E., Niehaus, L., Sacchetti, M. L., Toni, D., Fiorelli, M., Gori, C., Argentino, C., Lyrer, Ph., Radu, E. W., Gratzl, O., Rondepierre, Ph., Leclerc, X., Marchau, Jr, M., Scheltens, Ph., Hamon, M., Janssens, E., Henon, H., Lucas, C., KuÇukoglu, H., Baybas, S., Dervis, A., YalÇiner, B., Yilmaz, N., Ozturk, M., Arpaci, B., Navarro, J. A., Arenas, J., Perez-Sempere, A., Egido, J. A., Soriano-Soriano, C., Beau, P., Gergaud, J. -M., Coudero, C., Dierckx, R. A., Dobbeleir, A., Timmermans, E., Vandevivere, J., Lucas, C. H., Gomez, M., Aguirre, J., Berenguer, A., Duran, C., Parrilla, J., Gonzalez, F., Gironell, A., Rey, A., Marti-Vilalta, J. L., de Lecinana, M. Alonso, Federico, F., Conte, C., Simone, I. L., Giannini, P., Liguori, M., Lucivero, V., Picciola, E., Tortorella, C., Drislane, F., Wang, A. Ming, Di Mascio, R., Marchioli, R., Vitullo, F., Di Pasquale, A., Sciulli, L., Kramer, V., Tognoni, G., Levivier, M., del Olmo, A., Caballero, E., Degaey, I., de Bruijn, S. F. T. M., Tchaoussoglou, I., Bastianello, S., Pozzilli, C., Cervello, A., Catala, N., Koskas, F., Kieffer, E., Botia, E., Vivancos, J., Leon, T., Segura, T., Ramo, C., Lopez, F., Karepov, V. G., Gur, A. J., Berlanga, B., Gracia, V., Fiol, C., Kurtel, H., Ozkutlu, U., Yegen, B., Grau, A. J., Buggle, F., Heindle, S., Steichen-Wiehn, C., Banerjee, T., Maiwald, M., Becher, H., Villafana, W., Medina, F., Fernandez-Real, J. M., Soler, S., Planas, E., Iceman, E., Doganer, I., Badlan, G., Genc, B., Yulug, K., Ideman, E., Dural, H., Kutlul, K., Damalik, G., Baklan, Y., Metin, B., Tekinsoy, E., Iriarte, I., Subira, M. L., Crockar, A. D., Treacy, M., McNell, T. A., Grazzi, L., Ediboglu, N., Bilgin, H., Ertas, S., Goument, J. -P., Basset, C., Campos, Y., Garcia-Silva, T., Cabello, A., Bussaglia, E., Tizzano, E., Colomer, J., Gimbergues, P., Campagne, D., Bommelaer, C., Delaguillaume, B., Ramtami, H., Ait-Kaci-Ahmed, M., Pascual L. F., Fernandez T., Hortells M., Sanz C., Morales F., Lauritzen, L., Picard, F., Sellal, F., Collard, M., Avramidis, T., Alexiou, E., Anastopoulos, T., Frongillo, D., Delfino, F. A., Cannata, M., Calo, L., Vichi, R., Antonini, G., Fragola, V., Cannata, D., Salas, M., Ruiz, C., Angelard, B., Lacau, J., Guily, St., Sendtner, M., Goadsby, Peter J., Quin, N. P., Gadian, D. G., Roland, P. E., Seitz, Rudiger J., Frackowiak, Richard S. J., Becker, G., Krone, A., Schmidt, K., Hofmann, E., Bogdahn, U., Rosenfeld, M. R., Meneses, P., Kaplitt, M. G., Dalmau, J., Posner, J., Cordon-Cardon, C., Hoang-Xuan, K., Vega, F., Nishisho, I., Moisan, J. P., Theillet, C., Delattre, O., Zhu, Jiahong, Walther, W., Posner, J. B., Roelcke, U., von Ammon, K., Pellikka, R., Lucking, C. H., Walon, C., Boucquey, D., -Van Rijckevorsel, K. Harmant, Lannoy, N., Verellen-Dunoulin, Ch., Liszka, U., Cavaletti, G., Casati, B., Kolig, C., Bogliun, G., Marzorati, L., Johannsen, L., Chio, A., Ruda, R., Vigliani, M. C., Sciolla, R., Seliak, D., Hoang-Xuang, K., Villanueva, J. A., Montalban, X., Arboix, A., Colosimo, C., Albanese, A., Hughes, A. J., de Bruin, V., Lees, A. J., Kowalski, J. W., Banfi, S., Santoro, L., Perretti, A., Castaldo, I., Barbieri, F., Campanella, G., Bhatia, K. P., Mardsen, C. D., de Bruin, V. S., Machedo, C., Ceballos-Baumann, D., Marsden, C. D., Brooks, D. B. J., Wennlng, G. K., Quinn, N., McDonald, W. l., Warner, T. T., Bain, P. C., Davis, M. B., Conway, D., Shaunak, S., O'Sullivan, E., Crawford, T., Lawden, M., Blunt, S., Rapoport, A., Sarova-Pinchas, I., de Beyl, D. Zegers, Mavroudakis, N., Blanc, S., Godinot, C., Lenoir, G., Barkhof, M. S. F., Tas, M. W., Baron, P. L., Constantin, C., Cassatella, M. A., Langdon, D. W., Webb, S., Gasparini, P., Zeviani, A., Kidd, D., Mammi, S., Cahalon, L., Hershkoviz, R., Lahat, N., Wallach, D., Annunziata, P., Martino, T., Maimone, D., Guazzi, G. C., Porrini, A. M., Dell'Arciprete, L., Rothwell, P. M., Stewart, R. R. C., Cull, R. E., Willmes, K., Poeck, K., Russell, D., Braekken, S. K., Brucher, R., Svennevig, J., Hermesl, M., Bruckmann, H., Biraben, A., Sliwka, U., Meyer, B., Schondube, F., Noth, J., Lavenu, I., Lammers, C., Waldecker, B., Haberbosch, W., Stam, J., Schneider, R., Gautier, J. C., Berlit, T. P., Fauser, B., Kuhne, D., Geraud, G., Danielli, A., Larrue, V., Bes, A., Timmerman, E., Bono, F., Bruni, A. C., Valalentino, P., Montesi, M. P., Talerico, G., Zappia, M., Sabatelli, M., Quattrone, A., Pareyson, D., Lorenzetti, D., Sghirlanzoni, A., Castellotti, B., Lupski, J. R., Archidiacono, N., Antonacci, R., Marzella, R., Rocchi, M., Samuel, D., Goulon-Goeau, C., Costa, P. P., Bismuth, H., Said, G., De Jongh P., Lofgren A., Timmerman V., Vance J. M., Van Broeckhoven C., Martin J. -J., Martinez, A. Cruz, Bort, S., Arpa, J., Misra, P., King, R. H. M., Badhia, K., Anderson, M., Caballo, A., Vichez, J., Gabriel, J. M., Erne, B., Miescher, G. C., Ulrich, J., Vital, A., Vital, C., Steck, A., Petry, K., Labatut, I., Hilmi, S., Ellie, E., Ferrini-Strambi, L., Zucconl, M., Marchettini, P., Palazzi, S., Oehlschlager, M., Pepinsky, R. B., Gemignani, F., Marbini, A., Pavesi, G., Di Vittorio, S., Manganelli, P., Mancia, D., Vermersh, P., Roche, J., Durocher, A. M., Dewailly, Ph., Dettmers, C., Fink, G., Lemon, R., Stephan, K., Passingham, D., Weder, B., Knorr, U., Huang, Y., Butterfield, D. A., Peris, M. L., Peiro, C., Pascual, A. Pascual-Leone, Bottini, G., Folnegovic-Smalc, V., Knezevic, S., Bokonjic, R., Ersmark, B., Torres, M. Gonzalez, Guiraud-Chaumeil, B., Haugaard, K., Jovicic, A., Chr, Lang, Levic, Z., Parra, C. Martinez, Ochoa, J. Patrignani, Titlbach, O., Wikkelso, C., Caparros-Lefevre, D., Debachy, B., Verier, A., Cantinho, G., Santos, A. I., Godinho, F., Bagunya, J., Roig, T., Ensenyat, A., Santiag, O., Trabucchi, H., De Leo, D., Koch, Ch., Zeumer, H., Matkovic, Z., Morris, P., Donaghy, M., Köhler, W., Kammer, T., Röther, J., Navon, R., Fontaine, B., Wu, Y., Capdevila, A., Guardiola, M. J., van Dijk, G. W., Notermans, N. C., Kruize, A. A., Kater, L., Bertelt, C., Hesse, S., Friedrich, H., Mauritz, K. -H., Giron, L. T., Watanabe, I. S., Ewing, D., Koepp, M., Lempert, T., Sander, B., Kauerz, U., Mehdorn, H. M., Hezel, J., Eickhoff, W., Kryst, T., Timsit, S., Gardeur, D., Reis, Mitermayer Galvao dos, Secor, E., Filho, A. Andrade, Silva, M. Cardoso, Santos, S. R. Silveira, Vasilaski, G., Reis, E. A. dos, Velupillai, P., Harn, D. A., Tigera, J. Garcia, Dreke, R. Martinez, Crespo, R. Piedra, Besses, C., Acin, P., Massons, J., Florensa, L., Oliveres, M., Sans-Sabrafen, J., Wicklein, E. M., Pleiffer, G., Kunre, K., Dieterich, M., Brandt, Th., Guarino, M., Stracciari, A., Pazzaglia, P., D'Alessandro, R., Santilli, I., Donato, M., The European Velnacrine Study Group, The Dutch Guillain-Barré study group, The COP-1 Multicenter Clinical and Research Group Study, and European Study Group
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- 1994
- Full Text
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82. Le rachitisme symptomatique de l’adolescent
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Mallet, E, Gaudelus, J, Reinert, P, Le Luyer, B, Lecointre, C, Léger, J, Loirat, C, Quinet, B, Bénichou, J.J, Furioli, J, Loeuille, G.A, Roussel, B, Larchet, M, Freycon, F, Vidailhet, M, and Varet, I
- Published
- 2004
- Full Text
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83. Using global team science to identify genetic Parkinson's disease worldwide
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Vollstedt, E‐J, Kasten, M., Klein, C., Aasly, J., Adler, C., Ahmad‐Annuar, A., Albanese, A., Alcalay, R., Al‐Mubarak, B., Alvarez, V., Andree‐Muñoz, B., Annesi, G., Appel‐Cresswell, S., Arkadir, D., Armasu, S., Barber, T.R., Bardien, S., Barkhuizen, M., Barrett, M.J., BaŞak, 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., Brüggemann, N., Camacho, M., Cardoso, F., Belin, A.C., Carr, J., Chan, P., Chang‐Castello, J., Chase, B., Chen‐Plotkin, A., Chung, S.J., Cilia, R., Clarimon, J., Clark, L., Cornejo‐Olivas, M., Corvol, J‐C, Cosentino, C., Cras, P., Crosiers, D., Damásio, J., Das, P., 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., Genç, G., Goldwurm, S., Gomez‐Esteban, J.C., Gómez‐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., Jesús, S., Jimenez‐Del‐Rio, M., Kataoka, H., Kawakami, H., Kim, Y.J., Klivényi, P., Kõks, S., König, I.R., KostiĆ, V., Koziorowski, D., Krüger, R., Krygowska‐Wajs, A., Kulisevsky, J., 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., Magalhães, M., Majamaa, K., Maraganore, D., Marder, K., Markopoulou, K., Martikainen, M.H., Mata, I., Mazzetti, P., Mellick, G., Menéndez‐González, M., Micheli, F., Mirelman, A., Mir, P., Morino, H., Morris, H., Munhoz, R.P., Naito, A., Olszewska, D.A., Ozelius, L.J., Padmanabhan, S., Paisán‐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., Luciano, M.S., 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., 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‐J, Kasten, M., Klein, C., Aasly, J., Adler, C., Ahmad‐Annuar, A., Albanese, A., Alcalay, R., Al‐Mubarak, B., Alvarez, V., Andree‐Muñoz, B., Annesi, G., Appel‐Cresswell, S., Arkadir, D., Armasu, S., Barber, T.R., Bardien, S., Barkhuizen, M., Barrett, M.J., BaŞak, 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., Brüggemann, N., Camacho, M., Cardoso, F., Belin, A.C., Carr, J., Chan, P., Chang‐Castello, J., Chase, B., Chen‐Plotkin, A., Chung, S.J., Cilia, R., Clarimon, J., Clark, L., Cornejo‐Olivas, M., Corvol, J‐C, Cosentino, C., Cras, P., Crosiers, D., Damásio, J., Das, P., 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., Genç, G., Goldwurm, S., Gomez‐Esteban, J.C., Gómez‐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., Jesús, S., Jimenez‐Del‐Rio, M., Kataoka, H., Kawakami, H., Kim, Y.J., Klivényi, P., Kõks, S., König, I.R., KostiĆ, V., Koziorowski, D., Krüger, R., Krygowska‐Wajs, A., Kulisevsky, J., 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., Magalhães, M., Majamaa, K., Maraganore, D., Marder, K., Markopoulou, K., Martikainen, M.H., Mata, I., Mazzetti, P., Mellick, G., Menéndez‐González, M., Micheli, F., Mirelman, A., Mir, P., Morino, H., Morris, H., Munhoz, R.P., Naito, A., Olszewska, D.A., Ozelius, L.J., Padmanabhan, S., Paisán‐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., Luciano, M.S., 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., 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.
- Abstract
Talks on rare diseases in the field of neurology often start with a statement like this: “About 80% of all rare diseases have a neurologic manifestation and about 80% of those are genetic in origin.” Although these numbers probably represent more of an estimate than well‐documented evidence, rapidly advancing and cost‐effective sequencing technologies have led to the quickly growing identification of patients with hereditary neurological diseases...
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- 2019
84. Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
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Florian, RT, Kraft, F, Leitao, E, Kaya, S, Klebe, S, Magnin, E, van Rootselaar, A-F, Buratti, J, Kuehnel, T, Schroeder, C, Giesselmann, S, Tschernoster, N, Altmueller, J, lamiral, A, Keren, B, Nava, C, Bouteiller, D, Forlani, S, Jornea, L, Kubica, R, Ye, T, Plassard, D, Jost, B, Meyer, V, Deleuze, J-F, Delpu, Y, Avarello, MDM, Vijfhuizen, LS, Rudolf, G, Hirsch, E, Kroes, T, Reif, PS, Rosenow, F, Ganos, C, Vidailhet, M, Thivard, L, Mathieu, A, Bourgeron, T, Kurth, I, Rafehi, H, Steenpass, L, Horsthemke, B, Berkovic, SF, Bisulli, F, Brancati, F, Canafoglia, L, Casari, G, Guerrini, R, Ishiura, H, Licchetta, L, Mei, D, Pippucci, T, Sadleir, L, Scheffer, IE, Striano, P, Tinuper, P, Tsuji, S, Zara, F, LeGuern, E, Klein, KM, Labauge, P, Bennett, MF, Bahlo, M, Gecz, J, Corbett, MA, Tijssen, MAJ, van den Maagdenberg, AMJM, Depienne, C, Florian, RT, Kraft, F, Leitao, E, Kaya, S, Klebe, S, Magnin, E, van Rootselaar, A-F, Buratti, J, Kuehnel, T, Schroeder, C, Giesselmann, S, Tschernoster, N, Altmueller, J, lamiral, A, Keren, B, Nava, C, Bouteiller, D, Forlani, S, Jornea, L, Kubica, R, Ye, T, Plassard, D, Jost, B, Meyer, V, Deleuze, J-F, Delpu, Y, Avarello, MDM, Vijfhuizen, LS, Rudolf, G, Hirsch, E, Kroes, T, Reif, PS, Rosenow, F, Ganos, C, Vidailhet, M, Thivard, L, Mathieu, A, Bourgeron, T, Kurth, I, Rafehi, H, Steenpass, L, Horsthemke, B, Berkovic, SF, Bisulli, F, Brancati, F, Canafoglia, L, Casari, G, Guerrini, R, Ishiura, H, Licchetta, L, Mei, D, Pippucci, T, Sadleir, L, Scheffer, IE, Striano, P, Tinuper, P, Tsuji, S, Zara, F, LeGuern, E, Klein, KM, Labauge, P, Bennett, MF, Bahlo, M, Gecz, J, Corbett, MA, Tijssen, MAJ, van den Maagdenberg, AMJM, and Depienne, C
- Abstract
Familial Adult Myoclonic Epilepsy (FAME) is a genetically heterogeneous disorder characterized by cortical tremor and seizures. Intronic TTTTA/TTTCA repeat expansions in SAMD12 (FAME1) are the main cause of FAME in Asia. Using genome sequencing and repeat-primed PCR, we identify another site of this repeat expansion, in MARCH6 (FAME3) in four European families. Analysis of single DNA molecules with nanopore sequencing and molecular combing show that expansions range from 3.3 to 14 kb on average. However, we observe considerable variability in expansion length and structure, supporting the existence of multiple expansion configurations in blood cells and fibroblasts of the same individual. Moreover, the largest expansions are associated with micro-rearrangements occurring near the expansion in 20% of cells. This study provides further evidence that FAME is caused by intronic TTTTA/TTTCA expansions in distinct genes and reveals that expansions exhibit an unexpectedly high somatic instability that can ultimately result in genomic rearrangements.
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- 2019
85. Using global team science to identify genetic parkinson's disease worldwide
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Vollstedt, E. -J., Kasten, M., Klein, C., Aasly, J., Adler, C., Ahmad-Annuar, A., Albanese, Alberto, 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., Albanese A. (ORCID:0000-0002-5864-0006), Vollstedt, E. -J., Kasten, M., Klein, C., Aasly, J., Adler, C., Ahmad-Annuar, A., Albanese, Alberto, 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., and Albanese A. (ORCID:0000-0002-5864-0006)
- Abstract
Talks on rare diseases in the field of neurology often start with a statement like this: “About 80% of all rare diseases have a neurologic manifestation and about 80% of those are genetic in origin.” Although these numbers probably represent more of an estimate than well-documented evidence, rapidly advancing and cost-effective sequencing technologies have led to the quickly growing identification of patients with hereditary neurological diseases. Although the importance of genetics for diagnosis and genetic counseling is undisputed, the recent development of first genetargeted therapies entering clinical trial1,2 is adding an important new layer to the (re-)consideration of genetic testing in neurology. However, establishing accurate genotype– phenotype and genotype–treatment relationships requires large sample sizes. Systematic reviews can serve as instruments to combine information from several small samples, but unfortunately, this is often complicated by inconsistent and incomplete reporting of clinical and genetic data across studies. Thus, large multicenter approaches are necessary to systematically and uniformly characterize patients with genetic neurologic conditions and to eventually establish sizable clinical trial-ready cohorts.
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- 2019
86. Factors predicting improvement in motor disability in writer’s cramp treated with botulinum toxin
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Djebbari, R, du Montcel, S T, Sangla, S, Vidal, J S, Gallouedec, G, and Vidailhet, M
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- 2004
87. Electrophysiological Evidence for Central Hyperexcitability of Facial Motoneurons in Hemifacial Spasm
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Poignonec, S., Vidailhet, M., Lamas, G., Fligny, I., Soudant, J., Jedynak, P., Willer, J.-C., Stennert, E. R., editor, Kreutzberg, G. W., editor, Michel, O., editor, and Jungehülsing, M., editor
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- 1994
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88. Dopamine denervation in the functional territories of the striatum: a new MR and atlas-based 123I-FP-CIT SPECT quantification method.
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Villain, Nicolas, Béra, G., Habert, M.-O., Kas, A., Aubert, J., Jaubert, O., Valabregue, R., Fernandez-Vidal, S., Corvol, J.-C., Mangone, G., Lehéricy, S., Vidailhet, M., Grabli, D., the ICEBERG Study Group, Vidailhet, Marie, Corvol, Jean-Christophe, Arnulf, Isabelle, Lehéricy, Stéphane, Mangone, Graziella, and Ihle, Jonas
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RAPID eye movement sleep ,SINGLE-photon emission computed tomography ,PARKINSON'S disease ,DENERVATION ,COGNITIVE ability - Abstract
Current quantification methods of
123 I-FP-CIT SPECT rely on anatomical parcellation of the striatum. We propose here to implement a new method based on MRI segmentation and functional atlas of the basal ganglia (MR-ATLAS) that could provide a reliable quantification within the sensorimotor, associative, and limbic territories of the striatum. Patients with Parkinson's disease (PD), idiopathic rapid eye movement sleep behavioral disorder (iRBD), and healthy controls underwent123 I-FP-CIT SPECT, MRI, motor, and cognitive assessments. SPECT data were corrected for partial volume effects and registered to a functional atlas of the striatum to allow quantification in every functional region of the striatum (nucleus accumbens, limbic, associative, and sensorimotor parts of the striatum). The MR-ATLAS quantification method is proved to be reliable in every territory of the striatum. In addition, good correlations were found between cognitive dysexecutive tests and the binding within the functional (limbic) territories of the striatum using the MR-ATLAS method, slightly better than correlations found using the anatomical quantification method. This new MR-ATLAS method provides a robust and useful tool for studying the dopaminergic system in PD, particularly with respect to cognitive functions. It may also be relevant to further unravel the relationship between dopaminergic denervation and cognitive or behavioral symptoms. [ABSTRACT FROM AUTHOR]- Published
- 2021
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89. Mirror movements of the non-affected hand in hemiparkinsonian patients: a reflection of ipsilateral motor overactivity?
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Vidal, J S, Derkinderen, P, Vidailhet, M, Thobois, S, and Broussolle, E
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- 2003
90. Transmission of group II heteronymous pathways is enhanced in rigid lower limb of de novo patients with Parkinson’s disease
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Moreau, M. Simonetta, Meunier, S., Vidailhet, M., Pol, S., Galitzky, M., and Rascol, O.
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- 2002
91. Post-infectious ophtalmoparesis associated with anti-GM1 but not with anti-GQ1b antibodies
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Lavallée, P., Vidailhet, M., Dussaule, J. C., and Derkinderen, P.
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- 2001
92. Increased plasma neurotensin concentrations in patients with Parkinsonʼs disease
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Schimpff, R-M, Avard, C, Fénelon, G, Lhiaubet, A-M, Tennezé, L, Vidailhet, M, and Rostène, W
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- 2001
93. Blockade of cholecystokinin-A receptors has no effect on dyskinesias in Parkinsonʼs disease
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ARNULF, I, VIDAILHET, M, BONNET, A-M, DESCOMBES, S, JAILLON, C, AGID, Y, BREFEL, C, RASCOL, O, XIE, J, POLLAK, P, and CATTELIN, F
- Published
- 2001
94. Le programme national de depistage neonatal de la mucoviscidose mise en place et organisation
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Grosskopf, C, Farriaux, J.-P, Vidailhet, M, Briard, M.-L, Navarro, J, Turck, D, Travert, G, Belot, V, Bloch, J, and Roussel, P
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- 2003
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95. Alimentation du nourrisson et de l'enfant en bas âge. Réalisation pratique
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Bocquet, A, Bresson, J.L, Briend, A, Chouraqui, J.P, Darmaun, D, Dupont, C, Frelut, M.L, Ghisolfi, J, Goulet, O, Putet, G, Rieu, D, Turck, D, Vidailhet, M, Merlin, J.P, and Rives, J.J
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- 2003
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96. Mouvements anormaux et toxine botulique en neurologie
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Sangla, S, Trocello, J.M, Bourdain, F, Vidal, J.S, Gallouedec, G, and Vidailhet, M
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- 2003
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97. An Unusual Form of Stevens-Johnson Syndrome with Subcorneal Pustules Associated with Mycoplasma pneumoniae Infection
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Reichert-Penetrat, S., Barbaud, A., Antunes, A., Borsa-Dorion, A., Vidailhet, M., and Schmutz, J. L.
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- 2000
98. Dystonia
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Balint, B, Mencacci, Ne, Valente, Em, Pisani, A, Rothwell, J, Jankovic, J, Vidailhet, M, and Bhatia, Kp
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0301 basic medicine ,03 medical and health sciences ,030104 developmental biology ,0302 clinical medicine ,Settore MED/26 - Neurologia ,General Medicine ,030217 neurology & neurosurgery - Published
- 2018
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99. Naftazone in advanced Parkinson's disease: An acute L-DOPA challenge randomized controlled trial
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Dutheil, Frédéric, Durand, Élodie, Rieu, Isabelle, Mulliez, Aurélien, Fantini, Maria Livia, Boirie, Yves, Fernagut, Pierre-Olivier, Azulay, J.P., Vidailhet, M., Tranchant, C., Corvol, Jean-Christophe, Durif, Franck, Meissner, Wassilios, Azulay, Jean-Philippe, Haddad, Raphaël, Guimarães-Costa, Raquel, Mariani, Louise-Laure, Cormier-Dequaire, Florence, Thalamas, Claire, Galitzky, Monique, Boraud, Thomas, Debilly, Bérengère, Eusebio, Alexandre, Houot, Marion, Dellapina, Estelle, Chaigneau, Véronique, Salis, Alexandrine, Lacomblez, Lucette, Benel, Laurent, Rascol, Olivier, Centre d'investigation clinique Neurosciences [CHU Pitié Salpêtrière] (CIC Neurosciences), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Clermont-Ferrand, Université Clermont Auvergne (UCA), Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), CHU Bordeaux [Bordeaux], Institut de Neurosciences de la Timone (INT), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Hôpital de la Timone [CHU - APHM] (TIMONE), Centre d'investigation clinique de Toulouse (CIC 1436), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Toulouse [Toulouse], Plateforme F-CRIN, Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Neurologie [CHU Clermont-Ferrand], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand-CHU Estaing [Clermont-Ferrand], Institut de la Mémoire et de la Maladie d'Alzheimer [Paris] (IM2A), Sorbonne Université (SU), EA4278 Laboratoire de Pharm-Ecologie Cardiovasculaire (LaPEC), Avignon Université (AU), École d’Orthoptie - Clermont-Ferrand (EO - UdA), CHU Clermont-Ferrand-Université d'Auvergne - Clermont-Ferrand I (UdA), Institut National de la Recherche Agronomique (INRA), CHU Clermont-Ferrand, Unité de Biostatistiques, Délégation Recherche Clinique & Innovation, Neuro-Psycho Pharmacologie des Systèmes Dopimanégiques sous-corticaux - Clermont Auvergne (NPsy-Sydo), CHU Clermont-Ferrand-Université Clermont Auvergne (UCA), Unité de Nutrition Humaine - Clermont Auvergne (UNH), Institut National de la Recherche Agronomique (INRA)-Université Clermont Auvergne (UCA), Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Service de Neurologie [Strasbourg], CHU Strasbourg-Hopital Civil, CIC Pitié Neurosciences, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP], Neuro-Psycho Pharmacologie des Systèmes Dopimanégiques sous-corticaux (NPsy-Sydo), Physiologie et physiopathologie de la signalisation cellulaire (PPSC), Université Bordeaux Segalen - Bordeaux 2-Université Sciences et Technologies - Bordeaux 1-CHU Bordeaux [Bordeaux]-Centre National de la Recherche Scientifique (CNRS), Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [APHP], CIC - Biotherapie - Toulouse, Institut National de la Santé et de la Recherche Médicale (INSERM), CIC Toulouse, Fédération des Maladies du Système Nerveux, Imagerie cérébrale et handicaps neurologiques, Institut des sciences du cerveau de Toulouse. (ISCT), Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Pôle Santé publique et médecine publique [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), and Université de Toulouse (UT)-Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)
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0301 basic medicine ,Male ,Dyskinesia, Drug-Induced ,Parkinson's disease ,[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology ,Dopamine Agents ,law.invention ,Antiparkinson Agents ,Levodopa ,0302 clinical medicine ,Randomized controlled trial ,law ,Medicine ,ComputingMilieux_MISCELLANEOUS ,education.field_of_study ,Cross-Over Studies ,[SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behavior ,[SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences ,Parkinson Disease ,Middle Aged ,3. Good health ,Clinical trial ,Treatment Outcome ,Neurology ,Female ,medicine.symptom ,Naftazone ,medicine.drug ,medicine.medical_specialty ,Population ,Placebo ,03 medical and health sciences ,Double-Blind Method ,Internal medicine ,Humans ,education ,Aged ,Levodopa-induced dyskinesia ,business.industry ,[SCCO.NEUR]Cognitive science/Neuroscience ,medicine.disease ,030104 developmental biology ,Dyskinesia ,Neurology (clinical) ,Geriatrics and Gerontology ,business ,030217 neurology & neurosurgery ,Naphthoquinones - Abstract
International audience; Introduction: There is an unmet need to better control motor complications in Parkinson's disease (PD). Naftazone, which exhibits glutamate release inhibition properties, has shown antiparkinsonian and antidyskinetic activity in preclinical models of PD and in a clinical proof of concept study.Methods: We conducted a double-blind randomized placebo-controlled cross-over trial in PD patients with motor fluctuations and dyskinesia testing naftazone 160 mg/day versus placebo for 14 days. The two co-primary endpoints were the area under curve (AUC) of motor (MDS-UPDRS part III) and dyskinesia (AIMS) scores during an acute levodopa challenge performed at the end of each period. Secondary endpoints were UDysRS and axial symptoms scores during the challenge; AIMS, UDysRS, and time spent with or without dyskinesia the day before the challenge. The primary analysis was performed in the per protocol population.Results: Sixteen patients were included in the analysis. There was no difference between naftazone and placebo for the AUC of MDS-UPDRS III (-89, 95%CI[-1071; 893], p = 0.85), and AIMS (70, 95%CI[-192; 332], p = 0.57). At the end of treatment periods, AIMS score tended to be lower with naftazone than placebo (4.4 ± 3.4 versus 6.7 ± 4.4, p = 0.07), but UDysRS scores and other secondary outcomes were not different. Naftazone was safe and well tolerated.Conclusions: This study did not confirm previous results on the efficacy of naftazone on dyskinesia nor motor fluctuations highlighting the problem of translating results obtained in preclinical models into clinical trials. Further investigation of naftazone may be conducted in PD with longer treatment duration.
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- 2018
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100. Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes
- Author
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Coutelier, M. Hammer, M.B. Stevanin, G. Monin, M.-L. Davoine, C.-S. Mochel, F. Labauge, P. Ewenczyk, C. Ding, J. Gibbs, J.R. Hannequin, D. Melki, J. Toutain, A. Laugel, V. Forlani, S. Charles, P. Broussolle, E. Thobois, S. Afenjar, A. Anheim, M. Calvas, P. Castelnovo, G. De Broucker, T. Vidailhet, M. Moulignier, A. Ghnassia, R.T. Tallaksen, C. Mignot, C. Goizet, C. Le Ber, I. Ollagnon-Roman, E. Pouget, J. Brice, A. Singleton, A. Durr, A. Belarabi, S. Hamri, A. Tazir, M. Boesch, S. Pandolfo, M. Ullmann, U. Jardim, L. Guergueltcheva, V. Tournev, I. Soong, B.-W. Linarès, O.L.P. Nielsen, J.E. Svenstrup, K. Zaki, M. Azulay, J.-P. Banneau, G. Boesfplug-Tanguy, O. Burgo, A. Cazeneuve, C. Darios, F. Depienne, C. Duyckaerts, C. Fontaine, B. Hazan, J. Koenig, M. Marelli, C. N'guyen, K. Rodriguez, D. Sittler, A. Verny, C. Bauer, P. Schöls, L. Schüle, R. Koutsis, G. Lossos, A. Antenora, A. Bassi, M.T. Basso, M. Bertini, E. Brusco, A. Casali, C. Casari, G. Criscuolo, C. Filla, A. Lieto, M. Orsi, L. Santorelli, F.M. Valente, E.M. Vavla, M. Vazza, G. Megarbane, A. Benomar, A. Roxburgh, R. Erichsen, A.K. Alonso, I. Coutinho, P. Loureiro, J.L. Sequeiros, J. Salih, M. Kostic, V.S. Axpe, I.R. Roumani, S. Kremer, B. Van Roon-Mom, W. Boukhris, A. Mhiri, C. Karabay, A. Nethisinghe, S. Okane, C. Oliva, M. Reid, E. Warner, T. Wood, N. Spastic Paraplegia Ataxia Network
- Abstract
IMPORTANCE Molecular diagnosis is difficult to achieve in disease groups with a highly heterogeneous genetic background, such as cerebellar ataxia (CA). In many patients, candidate gene sequencing or focused resequencing arrays do not allow investigators to reach a genetic conclusion. OBJECTIVES To assess the efficacy of exome-targeted capture sequencing to detect mutations in genes broadly linked to CA in a large cohort of undiagnosed patients and to investigate their prevalence. DESIGN, SETTING, AND PARTICIPANTS Three hundred nineteen index patients with CA and without a history of dominant transmission were included in the this cohort study by the Spastic Paraplegia and Ataxia Network. Centralized storage was in the DNA and cell bank of the Brain and Spine Institute, Salpetriere Hospital, Paris, France. Patients were classified into 6 clinical groups, with the largest being those with spastic ataxia (ie, CA with pyramidal signs [n = 100]). Sequencing was performed from January 1, 2014, through December 31, 2016. Detected variants were classified as very probably or definitely causative, possibly causative, or of unknown significance based on genetic evidence and genotype-phenotype considerations. MAIN OUTCOMES AND MEASURES Identification of variants in genes broadly linked to CA, classified in pathogenicity groups. RESULTS The 319 included patients had equal sex distribution (160 female [50.2%] and 159 male patients [49.8%]; mean [SD] age at onset, 27.9 [18.6] years). The age at onset was younger than 25 years for 131 of 298 patients (44.0%) with complete clinical information. Consanguinity was present in 101 of 298 (33.9%). Very probable or definite diagnoses were achieved for 72 patients (22.6%), with an additional 19 (6.0%) harboring possibly pathogenic variants. The most frequently mutated genes were SPG7 (n = 14), SACS (n = 8), SETX (n = 7), SYNE1 (n = 6), and CACNA1A (n = 6). The highest diagnostic rate was obtained for patients with an autosomal recessive CA with oculomotor apraxia-like phenotype (6 of 17 [35.3%]) or spastic ataxia (35 of 100 [35.0%]) and patients with onset before 25 years of age (41 of 131 [31.3%]). Peculiar phenotypes were reported for patients carrying KCND3 or ERCC5 variants. CONCLUSIONS AND RELEVANCE Exome capture followed by targeted analysis allows the molecular diagnosis in patients with highly heterogeneous mendelian disorders, such as CA, without prior assumption of the inheritance mode or causative gene. Being commonly available without specific design need, this procedure allows testing of a broader range of genes, consequently describing less classic phenotype-genotype correlations, and post hoc reanalysis of data as new genes are implicated in the disease. © 2018 American Medical Association. All rights reserved.
- Published
- 2018
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