Cacheux, M., Blum, A., Sebastien, M., Wozny, A. S., Brocard, J., Mamchaoui, K., Mouly, V., Roux-Buisson, N., Rendu, J., Monnier, N., Krivosic, R., Allen, P., Lacour, A., Lunardi, J., Faure, J., Marty, I. :
Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein
J Neuromuscul Dis, 2015 ; 2 (4) : 421-432
Publications (1184)
Chartier, A., Klein, P., Pierson, S., Barbezier, N., Gidaro, T., Casas, F., Carberry, S., Dowling, P., Maynadier, L., Bellec, M., Oloko, M., Jardel, C., Moritz, B., Dickson, G., Mouly, V., Ohlendieck, K., Butler-Browne, G., Trollet, C., Simonelig, M. :
Mitochondrial dysfunction reveals the role of mRNA poly(A) tail regulation in oculopharyngeal muscular dystrophy pathogenesis PLoS Genet, 2015 ; 11 (3) : e1005092
Mitochondrial dysfunction reveals the role of mRNA poly(A) tail regulation in oculopharyngeal muscular dystrophy pathogenesis PLoS Genet, 2015 ; 11 (3) : e1005092
Preisler, N., Laforet, P., Madsen, K. L., Prahm, K. P., Hedermann, G., Vissing, C. R., Galbo, H., Vissing, J. :
Skeletal muscle metabolism is impaired during exercise in glycogen storage disease type III Neurology, 2015 ; 84 (17) : 1767-1771
Skeletal muscle metabolism is impaired during exercise in glycogen storage disease type III Neurology, 2015 ; 84 (17) : 1767-1771
Santos, D. B., Boussaid, G., Stojkovic, T., Orlikowski, D., Letilly, N., Behin, A., Butel, S., Lofaso, F., Prigent, H. :
Respiratory muscle dysfunction in facioscapulohumeral muscular dystrophy Neuromuscul Disord, 2015 ; 25 (8) : 632-9
Respiratory muscle dysfunction in facioscapulohumeral muscular dystrophy Neuromuscul Disord, 2015 ; 25 (8) : 632-9
Malfatti, E., Chaves, M., Bellance, R., Viou, M. T., Sarrazin, E., Fardeau, M., Romero, N. B. :
Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy Muscle Nerve, 2015 ; 52 (5) : 895-9
Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy Muscle Nerve, 2015 ; 52 (5) : 895-9
Behin, A., Salort-Campana, E., Wahbi, K., Richard, P., Carlier, R. Y., Carlier, P., Laforet, P., Stojkovic, T., Maisonobe, T., Verschueren, A., Franques, J., Attarian, S., Maues de Paula, A., Figarella-Branger, D., Becane, H. M., Nelson, I., Duboc, D., Bonne, G., Vicart, P., Udd, B., Romero, N., Pouget, J., Eymard, B. :
Myofibrillar myopathies: State of the art, present and future challenges Rev Neurol (Paris), 2015 ; 171 (10) : 715-29
Myofibrillar myopathies: State of the art, present and future challenges Rev Neurol (Paris), 2015 ; 171 (10) : 715-29
Nectoux, J., de Cid, R., Baulande, S., Leturcq, F., Urtizberea, J. A., Penisson-Besnier, I., Nadaj-Pakleza, A., Roudaut, C., Criqui, A., Orhant, L., Peyroulan, D., Ben Yaou, R., Nelson, I., Cobo, A. M., Arne-Bes, M. C., Uro-Coste, E., Nitschke, P., Claustres, M., Bonne, G., Levy, N., Chelly, J., Richard, I., Cossee, M. :
Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing Eur J Hum Genet, 2015 ; 23 (7) : 929-94
Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing Eur J Hum Genet, 2015 ; 23 (7) : 929-94
Han, S. O., Li, S., Brooks, E. D., Masat, E., Leborgne, C., Banugaria, S., Bird, A., Mingozzi, F., Walmann, H., Koeberl, D. :
Enhanced Efficacy from Gene Therapy in Pompe Disease Using Co-receptor Blockade Hum Gene Ther, 2015 ; 26 (1) : 26-35
Enhanced Efficacy from Gene Therapy in Pompe Disease Using Co-receptor Blockade Hum Gene Ther, 2015 ; 26 (1) : 26-35
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 – Erratum J Clin Invest, 2015 ; 125 (1) : 456-7
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy – Erratum J Clin Invest, 2015 ; 125 (1) : 456-7
Clément, S., Gargiulo, M., Feingold, J., Durr, A. :
Lignes directrices et bonnes pratiques du test présymptomatique de la maladie de Huntington : passé, présent et futur en France Revue neurologique, 2015 ; 171 (6-7) : 572-580
Lignes directrices et bonnes pratiques du test présymptomatique de la maladie de Huntington : passé, présent et futur en France Revue neurologique, 2015 ; 171 (6-7) : 572-580
