Wahbi, K., Behin, A., Becane, H. M., Leturcq, F., Cossee, M., Laforet, P., Stojkovic, T., Carlier, P., Toussaint, M., Gaxotte, V., Cluzel, P., Eymard, B., Duboc, D. :
Dilated cardiomyopathy in patients with mutations in anoctamin 5
Int J Cardiol, 2013 ; 168 (1) : 76-9
Publications (1184)
Mercier, S., Toutain, A., Toussaint, A., Raynaud, M., de Barace, C., Marcorelles, P., Pasquier, L., Blayau, M., Espil, C., Parent, P., Journel, H., Lazaro, L., Andoni Urtizberea, J., Moerman, A., Faivre, L., Eymard, B., Maincent, K., Gherardi, R., Chaigne, D., Ben Yaou, R., Leturcq, F., Chelly, J., Desguerre, I. :
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age Eur J Hum Genet, 2013 ; 21 (8) : 855-863
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age Eur J Hum Genet, 2013 ; 21 (8) : 855-863
Gallais, B., Gargiulo, M., Montreuil, M., Eymard, B. :
La fatigue dans la dystrophie myotonique de Steinert : revue de la littérature et voies de recherche Annales médico-psychologiques, 2013 ; 171 (2) : 83-88
La fatigue dans la dystrophie myotonique de Steinert : revue de la littérature et voies de recherche Annales médico-psychologiques, 2013 ; 171 (2) : 83-88
Masat, E., Pavani, G., Mingozzi, F. :
Humoral immunity to AAV vectors in gene therapy: challenges and potential solutions Discov Med, 2013 ; 15 (85) : 379-89
Humoral immunity to AAV vectors in gene therapy: challenges and potential solutions Discov Med, 2013 ; 15 (85) : 379-89
Ferreboeuf, M., Mariot, V., Bessieres, B., Vasiljevic, A., Attie-Bitach, T., Collardeau, S., Morere, J., Roche, S., Magdinier, F., Robin-Ducellier, J., Rameau, P., Whalen, S., Desnuelle, C., Sacconi, S., Mouly, V., Butler-Browne, G., Dumonceaux, J. :
DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles Hum Mol Genet, 2013 ; 23 (1) : 171-81
DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles Hum Mol Genet, 2013 ; 23 (1) : 171-81
McIntosh, J., Lenting, P. J., Rosales, C., Lee, D., Rabbanian, S., Raj, D., Patel, N., Tuddenham, E. G., Christophe, O. D., McVey, J. H., Waddington, S., Nienhuis, A. W., Gray, J. T., Fagone, P., Mingozzi, F., Zhou, S. Z., High, K. A., Cancio, M., Ng, C. Y., Zhou, J., Morton, C. L., Davidoff, A. M., Nathwani, A. C. :
Therapeutic levels of FVIII following a single peripheral vein administration of rAAV vector encoding a novel human factor VIII variant Blood, 2013 ; 121 (17) : 3335-44
Therapeutic levels of FVIII following a single peripheral vein administration of rAAV vector encoding a novel human factor VIII variant Blood, 2013 ; 121 (17) : 3335-44
Cufi, P., Dragin, N., Weiss, J. M., Martinez-Martinez, P., De Baets, M. H., Roussin, R., Fadel, E., Berrih-Aknin, S., Le Panse, R. :
Implication of double-stranded RNA signaling in the etiology of autoimmune myasthenia gravis Ann Neurol, 2013 ; 73 (2) : 281-93
Implication of double-stranded RNA signaling in the etiology of autoimmune myasthenia gravis Ann Neurol, 2013 ; 73 (2) : 281-93
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 gene de la periaxine (CMT4F) : description clinique, électrophysiologique et génétique de 24 patients Rev Neurol (Paris), 2013 ; 169 (8-9) : 603-612
Maladie de Charcot-Marie-Tooth associée au gene de la periaxine (CMT4F) : description clinique, électrophysiologique et génétique de 24 patients Rev Neurol (Paris), 2013 ; 169 (8-9) : 603-612
Wahbi, K., Algalarrondo, V., Becane, H. M., Fressart, V., Beldjord, C., Azibi, K., Lazarus, A., Berber, N., Radvanyi-Hoffman, H., Stojkovic, T., Behin, A., Laforet, P., Eymard, B., Hatem, S., Duboc, D. :
Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1 Arch Cardiovasc Dis, 2013 ; 106 (12) : 635-43
Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1 Arch Cardiovasc Dis, 2013 ; 106 (12) : 635-43
Hourde, C., Joanne, P., Noirez, P., Agbulut, O., Butler-Browne, G., Ferry, A. :
Protective effect of female gender-related factors on muscle force-generating capacity and fragility in the dystrophic mdx mouse Muscle Nerve, 2013 ; 48 (1) : 68-75
Protective effect of female gender-related factors on muscle force-generating capacity and fragility in the dystrophic mdx mouse Muscle Nerve, 2013 ; 48 (1) : 68-75