Bushby, K., Finkel, R., Wong, B., Barohn, R., Campbell, C., Comi, G. P., Connolly, A. M., Day, J. W., Flanigan, K. M., Goemans, N., Jones, K. J., Mercuri, E., Quinlivan, R., Renfroe, J. B., Russman, B., Ryan, M. M., Tulinius, M., Voit, T., Moore, S. A., Sweeney, H. L., Abresch, R. T., Coleman, K. L., Eagle, M., Florence, J., Gappmaier, E., Glanzman, A. M., Henricson, E., Barth, J., Elfring, G. L., Reha, A., Spiegel, R. J., O'Donnell, M. W., Peltz, S. W., McDonald, C. M., Ptc Gd-Dmd Study Group :
Ataluren treatment of patients with nonsense mutation dystrophinopathy
Muscle Nerve, 2014 ; 50(4):477-87 (4) : 477-87
Publications (1184)
Gargiulo, M., Herson, A., Angeard, N. :
Annoncer une maladie génétique à l’enfant. Désir de savoir, besoin de comprendre Enfances et Psy, 2014 ; 64 (3) : 77-88
Annoncer une maladie génétique à l’enfant. Désir de savoir, besoin de comprendre Enfances et Psy, 2014 ; 64 (3) : 77-88
Orngreen, M. C., Madsen, K. L., Preisler, N., Andersen, G., Vissing, J., Laforet, P. :
Bezafibrate in skeletal muscle fatty acid oxidation disorders: A randomized clinical trial Neurology, 2014 ; 82 (7) : 607-613
Bezafibrate in skeletal muscle fatty acid oxidation disorders: A randomized clinical trial Neurology, 2014 ; 82 (7) : 607-613
Vrolix, K., Fraussen, J., Losen, M., Stevens, J., Lazaridis, K., Molenaar, P. C., Somers, V., Bracho, M. A., Le Panse, R., Stinissen, P., Berrih-Aknin, S., Maessen, J. G., Van Garsse, L., Buurman, W. A., Tzartos, S. J., De Baets, M. H., Martinez-Martinez, P. :
Clonal heterogeneity of thymic B cells from early-onset myasthenia gravis patients with antibodies against the acetylcholine receptor J Autoimmun, 2014 ; 52 : 101-112
Clonal heterogeneity of thymic B cells from early-onset myasthenia gravis patients with antibodies against the acetylcholine receptor J Autoimmun, 2014 ; 52 : 101-112
Barthelemy, I., Pinto-Mariz, F., Yada, E., Desquilbet, L., Savino, W., Silva-Barbosa, S. D., Faussat, A. M., Mouly, V., Voit, T., Blot, S., Butler-Browne, G. :
Predictive markers of clinical outcome in the GRMD dog model of Duchenne Muscular Dystrophy Dis Model Mech, 2014 ; 7 (11) : 1253-61
Predictive markers of clinical outcome in the GRMD dog model of Duchenne Muscular Dystrophy Dis Model Mech, 2014 ; 7 (11) : 1253-61
Deconinck, N., Richard, P., Allamand, V., Behin, A., Laforet, P., Ferreiro, A., de Becdelievre, A., Ledeuil, C., Gartioux, C., Nelson, I., Carlier, R. Y., Carlier, P., Wahbi, K., Romero, N., Zabot, M. T., Bouhour, F., Tiffreau, V., Lacour, A., Eymard, B., Stojkovic, T. :
Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution J Neurol Neurosurg Psychiatry, 2014 ; (SP) :
Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution J Neurol Neurosurg Psychiatry, 2014 ; (SP) :
Klinck, R., Fourrier, A., Thibault, P., Toutant, J., Durand, M., Lapointe, E., Caillet-Boudin, M. L., Sergeant, N., Gourdon, G., Meola, G., Furling, D., Puymirat, J., Chabot, B. :
RBFOX1 Cooperates with MBNL1 to Control Splicing in Muscle, Including Events Altered in Myotonic Dystrophy Type 1 PLoS ONE, 2014 ; 9 (9) : e107324
RBFOX1 Cooperates with MBNL1 to Control Splicing in Muscle, Including Events Altered in Myotonic Dystrophy Type 1 PLoS ONE, 2014 ; 9 (9) : e107324
Renouil, M., Stojkovic, T., Jacquemont, M. L., Lauret, K., Boue, P., Fourmaintraux, A., Randrianaivo, H., Tallot, M., Mignard, D., Roelens, P., Tabailloux, D., Bernard, R., Cartault, F., Chane-Thien, E., Dubourg, O., Ferrer, X., Sole, G., Fournier, E., Latour, P., Lacour, A., Mignard, C. :
Maladie de Charcot-Marie-Tooth associée au gène de la périaxine (CMT4F) : description clinique, électrophysiologique et génétique de 24 patients. Rev Neurol (Paris), 2014 ; 169 (8-9) : 603-12
Maladie de Charcot-Marie-Tooth associée au gène de la périaxine (CMT4F) : description clinique, électrophysiologique et génétique de 24 patients. Rev Neurol (Paris), 2014 ; 169 (8-9) : 603-12
Bertrand, A. T., Bonnemann, C. G., Bonne, G. :
199th ENMC international workshop: FHL1 related myopathies, June 7-9, 2013, Naarden, The Netherlands Neuromuscul Disord, 2014 ; 24 (5) : 453-62
199th ENMC international workshop: FHL1 related myopathies, June 7-9, 2013, Naarden, The Netherlands Neuromuscul Disord, 2014 ; 24 (5) : 453-62
Eymard, B., Ferreiro, A., Ben Yaou, R., Stojkovic, T. :
Muscle diseases with prominent joint contractures: Main entities and diagnostic strategy Rev Neurol (Paris), 2014 ; 169 (8-9) : 546-63
Muscle diseases with prominent joint contractures: Main entities and diagnostic strategy Rev Neurol (Paris), 2014 ; 169 (8-9) : 546-63
