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
Publications (1184)
Meliani, A., Leborgne, C., Triffault, S., Jeanson-Leh, L., Veron, P., Mingozzi, F. :
Determination of anti-adeno-associated virus vector neutralizing antibody titer with an in vitro reporter system Hum Gene Ther Methods, 2015 ; 26 (2) : 45-53
Determination of anti-adeno-associated virus vector neutralizing antibody titer with an in vitro reporter system Hum Gene Ther Methods, 2015 ; 26 (2) : 45-53
Blondelle, J., Ohno, Y., Gache, V., Guyot, S., Storck, S., Blanchard-Gutton, N., Barthelemy, I., Walmsley, G., Rahier, A., Gadin, S., Maurer, M., Guillaud, L., Prola, A., Ferry, A., Aubin-Houzelstein, G., Demarquoy, J., Relaix, F., Piercy, R. J., Blot, S., Kihara, A., Tiret, L., Pilot-Storck, F. :
HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth J Mol Cell Biol, 2015 ; 7 (5) : 429-40
HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth J Mol Cell Biol, 2015 ; 7 (5) : 429-40
Yaou, R. B., De Sandre-Giovannoli, A., Leturcq, F., Levy, N., Bonne, G. :
Premiere reunion franco-italienne des laminopathies et autres pathologies liees a l’enveloppe nucleaire Med Sci (Paris), 2015 ; 31 Spec No 3 : 39-40
Premiere reunion franco-italienne des laminopathies et autres pathologies liees a l’enveloppe nucleaire Med Sci (Paris), 2015 ; 31 Spec No 3 : 39-40
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
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
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
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
