Santos, D. B., Boussaid, G., Stojkovic, T., Orlikowski, D., Letilly, N., Behin, A., Butel, S., Lofaso, F., Prigent, H. :
Respiratory muscle dysfunction in facioscapulohumeral muscular dystrophy
Neuromuscul Disord, 2015 ; 25 (8) : 632-9
Publications (1184)
Malfatti, E., Chaves, M., Bellance, R., Viou, M. T., Sarrazin, E., Fardeau, M., Romero, N. B. :
Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy Muscle Nerve, 2015 ; 52 (5) : 895-9
Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy Muscle Nerve, 2015 ; 52 (5) : 895-9
Behin, A., Salort-Campana, E., Wahbi, K., Richard, P., Carlier, R. Y., Carlier, P., Laforet, P., Stojkovic, T., Maisonobe, T., Verschueren, A., Franques, J., Attarian, S., Maues de Paula, A., Figarella-Branger, D., Becane, H. M., Nelson, I., Duboc, D., Bonne, G., Vicart, P., Udd, B., Romero, N., Pouget, J., Eymard, B. :
Myofibrillar myopathies: State of the art, present and future challenges Rev Neurol (Paris), 2015 ; 171 (10) : 715-29
Myofibrillar myopathies: State of the art, present and future challenges Rev Neurol (Paris), 2015 ; 171 (10) : 715-29
Nectoux, J., de Cid, R., Baulande, S., Leturcq, F., Urtizberea, J. A., Penisson-Besnier, I., Nadaj-Pakleza, A., Roudaut, C., Criqui, A., Orhant, L., Peyroulan, D., Ben Yaou, R., Nelson, I., Cobo, A. M., Arne-Bes, M. C., Uro-Coste, E., Nitschke, P., Claustres, M., Bonne, G., Levy, N., Chelly, J., Richard, I., Cossee, M. :
Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing Eur J Hum Genet, 2015 ; 23 (7) : 929-94
Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing Eur J Hum Genet, 2015 ; 23 (7) : 929-94
Han, S. O., Li, S., Brooks, E. D., Masat, E., Leborgne, C., Banugaria, S., Bird, A., Mingozzi, F., Walmann, H., Koeberl, D. :
Enhanced Efficacy from Gene Therapy in Pompe Disease Using Co-receptor Blockade Hum Gene Ther, 2015 ; 26 (1) : 26-35
Enhanced Efficacy from Gene Therapy in Pompe Disease Using Co-receptor Blockade Hum Gene Ther, 2015 ; 26 (1) : 26-35
Yuen, M., Sandaradura, S. A., Dowling, J. J., Kostyukova, A. S., Moroz, N., Quinlan, K. G., Lehtokari, V. L., Ravenscroft, G., Todd, E. J., Ceyhan-Birsoy, O., Gokhin, D. S., Maluenda, J., Lek, M., Nolent, F., Pappas, C. T., Novak, S. M., D'Amico, A., Malfatti, E., Thomas, B. P., Gabriel, S. B., Gupta, N., Daly, M. J., Ilkovski, B., Houweling, P. J., Davidson, A. E., Swanson, L. C., Brownstein, C. A., Gupta, V. A., Medne, L., Shannon, P., Martin, N., Bick, D. P., Flisberg, A., Holmberg, E., Van den Bergh, P., Lapunzina, P., Waddell, L. B., Sloboda, D. D., Bertini, E., Chitayat, D., Telfer, W. R., Laquerriere, A., Gregorio, C. C., Ottenheijm, C. A., Bonnemann, C. G., Pelin, K., Beggs, A. H., Hayashi, Y. K., Romero, N. B., Laing, N. G., Nishino, I., Wallgren-Pettersson, C., Melki, J., Fowler, V. M., MacArthur, D. G., North, K. N., Clarke, N. F. :
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy – Erratum J Clin Invest, 2015 ; 125 (1) : 456-7
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy – Erratum J Clin Invest, 2015 ; 125 (1) : 456-7
Clément, S., Gargiulo, M., Feingold, J., Durr, A. :
Lignes directrices et bonnes pratiques du test présymptomatique de la maladie de Huntington : passé, présent et futur en France Revue neurologique, 2015 ; 171 (6-7) : 572-580
Lignes directrices et bonnes pratiques du test présymptomatique de la maladie de Huntington : passé, présent et futur en France Revue neurologique, 2015 ; 171 (6-7) : 572-580
De Cid, R., Ben Yaou, R., Roudaut, C., Charton, K., Baulande, S., Leturcq, F., Romero, N. B., Malfatti, E., Beuvin, M., Vihola, A., Criqui, A., Nelson, I., Nectoux, J., Ben Aim, L., Caloustian, C., Olaso, R., Udd, B., Bonne, G., Eymard, B., Richard, I. :
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy Neurology, 2015 ; 85 (24) : 2126-35
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy Neurology, 2015 ; 85 (24) : 2126-35
Gargiulo, M., Rosemblum, O. :
Stigmates Champs Psy, Lâesprit du temps, 2015 ; 68 : 5-10
Stigmates Champs Psy, Lâesprit du temps, 2015 ; 68 : 5-10
Allenbach, Y, Leroux, G, Preusse, C, Suarez Calvet, X, Gallardo, E, Hervier, B, Rigolet, A, Hie, M, Limal, N, Hufnagl, P, Zerbe, N, Meyer, A, Maisonobe, T, Aouizerate, J, Uzunhan, Y, Goebel, H H, Benveniste, O, Stenzel, W :
Dermatomyositis with or without anti-MDA5 antibodies: common Interferon signature but distinct NOS2 expression Acta Neuropathol Commun, 2015 ; (SP) :
Dermatomyositis with or without anti-MDA5 antibodies: common Interferon signature but distinct NOS2 expression Acta Neuropathol Commun, 2015 ; (SP) :
