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
J Clin Invest, 2014 ; 124 (11) : 4693-4708
Publications (1184)
Benveniste, O. :
Le muscle inflammatoire : avancés en 2014 Rev Med Interne, 2014 ; 35 (7) : 411-412
Le muscle inflammatoire : avancés en 2014 Rev Med Interne, 2014 ; 35 (7) : 411-412
Devic, P., Petiot, P., Simonet, T., Stojkovic, T., Delmont, E., Franques, J., Magot, A., Vial, C., Lagrange, E., Nicot, A. S., Risson, V., Eymard, B., Schaeffer, L. :
Antibodies to clustered acetylcholine receptor: expanding the phenotype Eur J Neurol, 2014 ; 21 (1) : 130-4
Antibodies to clustered acetylcholine receptor: expanding the phenotype Eur J Neurol, 2014 ; 21 (1) : 130-4
Le Guiner, C, Montus, M, Servais, L, Cherel, Y, Francois, V, Thibaud, JL, Wary, C, Matot, B, Larcher, T, Guigand, L, Dutilleul, M, Domenger, C, Allais, M, Beuvin, M, Moraux, A, Le Duff, J, Devaux, M, Jaulin, N, Guilbaud, M, Latournerie, V, Veron, P, Boutin, S, Leborgne, C, Desgue, D, Deschamps, JY, Moullec, S, Fromes, Y, Vulin, A, Smith, RH, Laroudie, N, Barnay-Toutain, F, Rivière, C, Bucher, S, Hoa Le, T, Delaunay, N, Gasmi, M, Kotin, RM, Bonne, G, Adjali, O, Masurier, C, Hogrel, J. Y., Carlier, P, Moullier, P, Voit, T :
Forelimb Treatment in a Large Cohort of Dystrophic Dogs Supports Delivery of a Recombinant AAV for Exon Skipping in Duchenne Patients Mol Ther, 2014 ; 22(11):1923-35 (11) : 1923-35
Forelimb Treatment in a Large Cohort of Dystrophic Dogs Supports Delivery of a Recombinant AAV for Exon Skipping in Duchenne Patients Mol Ther, 2014 ; 22(11):1923-35 (11) : 1923-35
Schreckenbach, T., Schroder, J. M., Voit, T., Abicht, A., Neuen-Jacob, E., Roos, A., Bulst, S., Kuhl, C., Schulz, J. B., Weis, J., Claeys, K. G. :
Novel TPM3 mutation in a family with cap myopathy and review of the literature Neuromuscul Disord, 2014 ; 24 (2) : 117-24
Novel TPM3 mutation in a family with cap myopathy and review of the literature Neuromuscul Disord, 2014 ; 24 (2) : 117-24
Carlier, R Y, Carlier, P :
Intérêt de l’IRM musculaire dans l’enquête étiologique des dystrophies musculaires (dystrophie “des ceintures”) La Lettre du Neurologue, 2013 ; 17 (1) : 24-25
Intérêt de l’IRM musculaire dans l’enquête étiologique des dystrophies musculaires (dystrophie “des ceintures”) La Lettre du Neurologue, 2013 ; 17 (1) : 24-25
McDonald, C. M., Henricson, E. K., Abresch, R. T., Florence, J. M., Eagle, M., Gappmaier, E., Glanzman, A. M., Spiegel, R., Barth, J., Elfring, G., Reha, A., Peltz, S. :
The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study Muscle Nerve, 2013 ; 48 (3) : 343-56
The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study Muscle Nerve, 2013 ; 48 (3) : 343-56
Allenbach, Y., Benveniste, O. :
Acquired necrotizing myopathies Curr Opin Neurol, 2013 ; 26 (5) : 554-560
Acquired necrotizing myopathies Curr Opin Neurol, 2013 ; 26 (5) : 554-560
Allenbach, Y., Benveniste, O. :
Apport des auto-anticorps au cours des myopathies auto-immunes. Rev Neurol (Paris), 2013 ; (SP) :
Apport des auto-anticorps au cours des myopathies auto-immunes. Rev Neurol (Paris), 2013 ; (SP) :
Cattin, M. E., Bertrand, A. T., Schlossarek, S., Le Bihan, M. C., Jensen, S. S., Neuber, C., Crocini, C., Maron, S., Laine, J., Mougenot, N., Varnous, S., Fromes, Y., Hansen, A., Eschenhagen, T., Decostre, V., Carrier, L., Bonne, G. :
Heterozygous LmnadelK32 mice develop dilated cardiomyopathy through a combined pathomechanism of haploinsufficiency and peptide toxicity Hum Mol Genet, 2013 ; 22 (15) : 3152-64
Heterozygous LmnadelK32 mice develop dilated cardiomyopathy through a combined pathomechanism of haploinsufficiency and peptide toxicity Hum Mol Genet, 2013 ; 22 (15) : 3152-64
