Publications (1184)

Maurer, M., Bougoin, S., Feferman, T., Frenkian, M., Bismuth, J., Mouly, V., Clairac, G., Tzartos, S., Fadel, E., Eymard, B., Fuchs, S., Souroujon, M. C., Berrih-Aknin, S. :
IL-6 and Akt are involved in muscular pathogenesis in myasthenia gravis Acta Neuropathol Commun, 2015 ; 3 (1) : 1
Gali Ramamoorthy, T., Laverny, G., Schlagowski, A. I., Zoll, J., Messaddeq, N., Bornert, J. M., Panza, S., Ferry, A., Geny, B., Metzger, D. :
The transcriptional coregulator PGC-1beta controls mitochondrial function and anti-oxidant defence in skeletal muscles Nat Commun, 2015 ; 6 : 10210
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
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
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
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
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
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
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
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