El Mendili, M. M., Lenglet, T., Stojkovic, T., Behin, A., Guimaraes-Costa, R., Salachas, F., Meininger, V., Bruneteau, G., Le Forestier, N., Laforet, P., Lehericy, S., Benali, H., Pradat, P. F. :
Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA
PLoS ONE, 2016 ; 11 (4) : e0152439
Publications (1181)
Redelsperger, F., Raddi, N., Bacquin, A., Vernochet, C., Mariot, V., Gache, V., Blanchard-Gutton, N., Charrin, S., Tiret, L., Dumonceaux, J., Dupressoir, A., Heidmann, T. :
Genetic Evidence That Captured Retroviral Envelope syncytins Contribute to Myoblast Fusion and Muscle Sexual Dimorphism in Mice PLoS Genet, 2016 ; 12 (9) : e1006289
Genetic Evidence That Captured Retroviral Envelope syncytins Contribute to Myoblast Fusion and Muscle Sexual Dimorphism in Mice PLoS Genet, 2016 ; 12 (9) : e1006289
O'Grady, G. L., Best, H. A., Sztal, T. E., Schartner, V., Sanjuan-Vazquez, M., Donkervoort, S., Abath Neto, O., Sutton, R. B., Ilkovski, B., Romero, N. B., Stojkovic, T., Dastgir, J., Waddell, L. B., Boland, A., Hu, Y., Williams, C., Ruparelia, A. A., Maisonobe, T., Peduto, A. J., Reddel, S. W., Lek, M., Tukiainen, T., Cummings, B. B., Joshi, H., Nectoux, J., Brammah, S., Deleuze, J. F., Ing, V. O., Ramm, G., Ardicli, D., Nowak, K. J., Talim, B., Topaloglu, H., Laing, N. G., North, K. N., MacArthur, D. G., Friant, S., Clarke, N. F., Bryson-Richardson, R. J., Bonnemann, C. G., Laporte, J., Cooper, S. T. :
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization Am J Hum Genet, 2016 ; 99 (106) : 1086-1105
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization Am J Hum Genet, 2016 ; 99 (106) : 1086-1105
Stergiou, C., Lazaridis, K., Zouvelou, V., Tzartos, J., Mantegazza, R., Antozzi, C., Andreetta, F., Evoli, A., Deymeer, F., Saruhan-Direskeneli, G., Durmus, H., Brenner, T., Vaknin, A., Berrih-Aknin, S., Behin, A., Sharshar, T., De Baets, M., Losen, M., Martinez-Martinez, P., Kleopa, K. A., Zamba-Papanicolaou, E., Kyriakides, T., Kostera-Pruszczyk, A., Szczudlik, P., Szyluk, B., Lavrnic, D., Basta, I., Peric, S., Tallaksen, C., Maniaol, A., Gilhus, N. E., Casasnovas Pons, C., Pitha, J., Jakubikova, M., Hanisch, F., Bogomolovas, J., Labeit, D., Labeit, S., Tzartos, S. J. :
Titin antibodies in « seronegative » myasthenia gravis – A new role for an old antigen J Neuroimmunol, 2016 ; 292 : 108-15
Titin antibodies in « seronegative » myasthenia gravis – A new role for an old antigen J Neuroimmunol, 2016 ; 292 : 108-15
Baraibar, M. A., Hyzewicz, J., Rogowska-Wrzesinska, A., Bulteau, A. L., Prip-Buus, C., Butler-Browne, G., Friguet, B. :
Impaired energy metabolism of senescent muscle satellite cells is associated with oxidative modifications of glycolytic enzymes Aging (Albany NY), 2016 ; (SP) :
Impaired energy metabolism of senescent muscle satellite cells is associated with oxidative modifications of glycolytic enzymes Aging (Albany NY), 2016 ; (SP) :
Akman, H. O., Aykit, Y., Amuk, O. C., Malfatti, E., Romero, N. B., Maioli, M. A., Piras, R., DiMauro, S., Marrosu, G. :
Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1 Neuromuscul Disord, 2016 ; 26 (1) : 16-20
Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1 Neuromuscul Disord, 2016 ; 26 (1) : 16-20
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
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
