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
Publications (1184)
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
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
Azzabou, N., Carlier, P. G. :
Fat quantification and T2 measurement Pediatr Radiol, 2014 ; 44 (12) : 1620-1
Fat quantification and T2 measurement Pediatr Radiol, 2014 ; 44 (12) : 1620-1
Cufi, P., Dragin, N., Ruhlmann, N., Weiss, J. M., Fadel, E., Serraf, A., Berrih-Aknin, S., Le Panse, R. :
Central role of interferon-beta in thymic events leading to myasthenia gravis J Autoimmun, 2014 ; 52 : 44-52
Central role of interferon-beta in thymic events leading to myasthenia gravis J Autoimmun, 2014 ; 52 : 44-52
Jeanson-Leh, L., Lameth, J., Krimi, S., Buisset, J., Amor, F., Le Guiner, C., Barthelemy, I., Servais, L., Blot, S., Voit, T., Israeli, D. :
Serum Profiling Identifies Novel Muscle miRNA and Cardiomyopathy-Related miRNA Biomarkers in Golden Retriever Muscular Dystrophy Dogs and Duchenne Muscular Dystrophy Patients Am J Pathol, 2014 ; 184 (11) : 2885-98
Serum Profiling Identifies Novel Muscle miRNA and Cardiomyopathy-Related miRNA Biomarkers in Golden Retriever Muscular Dystrophy Dogs and Duchenne Muscular Dystrophy Patients Am J Pathol, 2014 ; 184 (11) : 2885-98
Rabin, M., Mutlu, G., Stojkovic, T., Maisonobe, T., Lenglet, T., Fournier, E., Bouche, P., Leger, J. M., Viala, K. :
Chronic inflammatory demyelinating polyradiculoneuropathy: search for factors associated with treatment dependence or successful withdrawal J Neurol Neurosurg Psychiatry, 2014 ; 85 (8) : 901-906
Chronic inflammatory demyelinating polyradiculoneuropathy: search for factors associated with treatment dependence or successful withdrawal J Neurol Neurosurg Psychiatry, 2014 ; 85 (8) : 901-906
