Bohm, J., Leshinsky-Silver, E., Vassilopoulos, S., Le Gras, S., Lerman-Sagie, T., Ginzberg, M., Jost, B., Lev, D., Laporte, J. :
Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation
Acta Neuropathol, 2012 ; 124 (4) : 575-581
Publications (1184)
Guergueltcheva, V., Muller, J. S., Dusl, M., Senderek, J., Oldfors, A., Lindbergh, C., Maxwell, S., Colomer, J., Mallebrera, C. J., Nascimento, A., Vilchez, J. J., Muelas, N., Kirschner, J., Nafissi, S., Kariminejad, A., Nilipour, Y., Bozorgmehr, B., Najmabadi, H., Rodolico, C., Sieb, J. P., Schlotter, B., Schoser, B., Herrmann, R., Voit, T., Steinlein, O. K., Najafi, A., Urtizberea, A., Soler, D. M., Muntoni, F., Hanna, M. G., Chaouch, A., Straub, V., Bushby, K., Palace, J., Beeson, D., Abicht, A., Lochmuller, H. :
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations J Neurol, 2012 ; 259 (5) : 838-850
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations J Neurol, 2012 ; 259 (5) : 838-850
Mochel, F., N'Guyen T, M., Deelchand, D., Rinaldi, D., Valabregue, R., Wary, C., Carlier, P. G., Durr, A., Henry, P. G. :
Abnormal response to cortical activation in early stages of Huntington disease Mov Disord, 2012 ; 27 (7) : 907-910
Abnormal response to cortical activation in early stages of Huntington disease Mov Disord, 2012 ; 27 (7) : 907-910
Attarian, S., Salort-Campana, E., Nguyen, K., Behin, A., Urtizberea, J. A. :
Recommendations for the management of facioscapulohumeral muscular dystrophy in 2011 Rev Neurol (Paris), 2012 ; 168 (12) : 910-918
Recommendations for the management of facioscapulohumeral muscular dystrophy in 2011 Rev Neurol (Paris), 2012 ; 168 (12) : 910-918
Dimitri, D., Eymard, B. :
Myopathies inflammatoires, myopathies necrosantes auto-immunes, myopathies genetiques de l’adulte: frontieres diagnostiques. Rev Med Interne, 2012 ; 33 (3) : 134-142
Myopathies inflammatoires, myopathies necrosantes auto-immunes, myopathies genetiques de l’adulte: frontieres diagnostiques. Rev Med Interne, 2012 ; 33 (3) : 134-142
Jallouli, M., Saadoun, D., Eymard, B., Leroux, G., Haroche, J., Le Thi Huong, D., De Gennes, C., Chapelon, C., Benveniste, O., Wechsler, B., Cacoub, P., Amoura, Z., Piette, J. C., Costedoat-Chalumeau, N. :
The association of systemic lupus erythematosus and myasthenia gravis: a series of 17 cases, with a special focus on hydroxychloroquine use and a review of the literature J Neurol, 2012 ; 259 (7) : 1290-7
The association of systemic lupus erythematosus and myasthenia gravis: a series of 17 cases, with a special focus on hydroxychloroquine use and a review of the literature J Neurol, 2012 ; 259 (7) : 1290-7
Prigent, H., Orlikowski, D., Laforet, P., Letilly, N., Falaize, L., Pellegrini, N., Annane, D., Raphael, J. C., Lofaso, F. :
Supine volume drop and diaphragmatic function in adults with Pompe disease Eur Respir J, 2012 ; 39 (6) : 1545-6
Supine volume drop and diaphragmatic function in adults with Pompe disease Eur Respir J, 2012 ; 39 (6) : 1545-6
Yokota, T, Duddy, W, Kolski, H :
Exon Skipping for Nonsense Mutations in Duchenne Muscular Dystrophy: Too Many Mutations, Too Few Patients ? Expert Opin Biol Ther, 2012 ; 12 (9) : 1141-1152
Exon Skipping for Nonsense Mutations in Duchenne Muscular Dystrophy: Too Many Mutations, Too Few Patients ? Expert Opin Biol Ther, 2012 ; 12 (9) : 1141-1152
Bencze, M., Negroni, E., Vallese, D., Yacoub-Youssef, H., Chaouch, S., Wolff, A., Aamiri, A., Di Santo, J. P., Chazaud, B., Butler-Browne, G., Savino, W., Mouly, V., Riederer, I. :
Proinflammatory Macrophages Enhance the Regenerative Capacity of Human Myoblasts by Modifying Their Kinetics of Proliferation and Differentiation Mol Ther, 2012 ; 20 (11) : 2168-2179
Proinflammatory Macrophages Enhance the Regenerative Capacity of Human Myoblasts by Modifying Their Kinetics of Proliferation and Differentiation Mol Ther, 2012 ; 20 (11) : 2168-2179
Friedrich, F. W., Wilding, B. R., Reischmann, S., Crocini, C., Lang, P., Charron, P., Muller, O. J., McGrath, M. J., Vollert, I., Hansen, A., Linke, W. A., Hengstenberg, C., Bonne, G., Morner, S., Wichter, T., Madeira, H., Arbustini, E., Eschenhagen, T., Mitchell, C. A., Isnard, R., Carrier, L. :
Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy Hum Mol Genet, 2012 ; 21 (14) : 3237-3254
Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy Hum Mol Genet, 2012 ; 21 (14) : 3237-3254
