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 (1181)
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, RiviĂšre, 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
Bohm, J., Chevessier, F., Koch, C., Peche, G. A., Mora, M., Morandi, L., Pasanisi, B., Moroni, I., Tasca, G., Fattori, F., Ricci, E., Penisson-Besnier, I., Nadaj-Pakleza, A., Fardeau, M., Joshi, P. R., Deschauer, M., Romero, N. B., Eymard, B., Laporte, J. :
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1 J Med Genet, 2014 ; 51 (12) : 824-33
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1 J Med Genet, 2014 ; 51 (12) : 824-33
Ferry, A., Schuh, M., Parlakian, A., Mgrditchian, T., Valnaud, N., Joanne, P., Butler-Browne, G., Agbulut, O., Metzger, D. :
Myofiber androgen receptor promotes maximal mechanical overload-induced muscle hypertrophy and fiber type transition in male mice Endocrinology, 2014 ; 155 (12) : 4739-48
Myofiber androgen receptor promotes maximal mechanical overload-induced muscle hypertrophy and fiber type transition in male mice Endocrinology, 2014 ; 155 (12) : 4739-48
Mora, M., Angelini, C., Bignami, F., Bodin, A., Crimi, M., Di Donato, J., Felice, A., Jaeger, C., Karcagi, V., LeCam, Y., Lynn, S., Meznaric, M., Moggio, M., Monaco, L., Politano, L., de la Paz, M. P., Saker, S., Schneiderat, P., Ensini, M., Garavaglia, B., Gurwitz, D., Johnson, D., Muntoni, F., Puymirat, J., Reza, M., Voit, T., Baldo, C., Bricarelli, F. D., Goldwurm, S., Merla, G., Pegoraro, E., Renieri, A., Zatloukal, K., Filocamo, M., Lochmuller, H. :
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases Eur J Hum Genet, 2014 ; (SP) :
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases Eur J Hum Genet, 2014 ; (SP) :
Theron, L., Gueugneau, M., Coudy, C., Viala, D., Bijlsma, A., Butler-Browne, G., Maier, A., Bechet, D., Chambon, C. :
Label-free quantitative protein profiling of vastus lateralis muscle during human aging Mol Cell Proteomics, 2014 ; 13 (1) : 283-94
Label-free quantitative protein profiling of vastus lateralis muscle during human aging Mol Cell Proteomics, 2014 ; 13 (1) : 283-94
Araujo, E. C., Fromes, Y., Carlier, P. G. :
New insights on human skeletal muscle tissue compartments revealed by in vivo t2 NMR relaxometry Biophys J, 2014 ; 106 (10) : 2267-74
New insights on human skeletal muscle tissue compartments revealed by in vivo t2 NMR relaxometry Biophys J, 2014 ; 106 (10) : 2267-74
