Publications (1184)

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
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
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
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
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
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
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
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
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
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