Bolocan, A., Quijano-Roy, S., Seferian, A. M., Baumann, C., Allamand, V., Richard, P., Estournet, B., Carlier, R., Cave, H., Gartioux, C., Blin, N., Le Moing, A. G., Gidaro, T., Germain, D. P., Fardeau, M., Voit, T., Servais, L., Romero, N. B. :
Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation
Neuromuscul Disord, 2014 ; 24(11):993-8 (11) : 993-8
Publications (1184)
Flanigan, K. M., Voit, T., Rosales, X. Q., Servais, L., Kraus, J. E., Wardell, C., Morgan, A., Dorricott, S., Nakielny, J., Quarcoo, N., Liefaard, L., Drury, T., Campion, G., Wright, P. :
Pharmacokinetics and safety of single doses of drisapersen in non-ambulant subjects with Duchenne muscular dystrophy: Results of a double-blind randomized clinical trial Neuromuscul Disord, 2014 ; 24 (1) : 16-24
Pharmacokinetics and safety of single doses of drisapersen in non-ambulant subjects with Duchenne muscular dystrophy: Results of a double-blind randomized clinical trial Neuromuscul Disord, 2014 ; 24 (1) : 16-24
Nathwani, A. C., Reiss, U. M., Tuddenham, E. G., Rosales, C., Chowdary, P., McIntosh, J., Della Peruta, M., Lheriteau, E., Patel, N., Raj, D., Riddell, A., Pie, J., Rangarajan, S., Bevan, D., Recht, M., Shen, Y. M., Halka, K. G., Basner-Tschakarjan, E., Mingozzi, F., High, K. A., Allay, J., Kay, M. A., Ng, C. Y., Zhou, J., Cancio, M., Morton, C. L., Gray, J. T., Srivastava, D., Nienhuis, A. W., Davidoff, A. M. :
Long-term safety and efficacy of factor IX gene therapy in hemophilia B N Engl J Med, 2014 ; 371 (21) : 1994-2004
Long-term safety and efficacy of factor IX gene therapy in hemophilia B N Engl J Med, 2014 ; 371 (21) : 1994-2004
Vassilopoulos, S., Gentil, C., Laine, J., Buclez, P. O., Franck, A., Ferry, A., Precigout, G., Roth, R., Heuser, J. E., Brodsky, F. M., Garcia, L., Bonne, G., Voit, T., Pietri-Rouxel, F., Bitoun, M. :
Actin scaffolding by clathrin heavy chain is required for skeletal muscle sarcomere organization J Cell Biol, 2014 ; 205 (3) : 377-93
Actin scaffolding by clathrin heavy chain is required for skeletal muscle sarcomere organization J Cell Biol, 2014 ; 205 (3) : 377-93
Baraibar, M., Hyzewicz, J., Rogowska-Wrzesinska, A., Bulteau, A. L., Prip-Buus, C., Butler-Browne, G., Friguet, B. :
Impaired metabolism of senescent muscle satellite cells is associated with oxidative modifications of glycolytic enzymes Free Radic Biol Med, 2014 ; 75 Suppl 1 : S23
Impaired metabolism of senescent muscle satellite cells is associated with oxidative modifications of glycolytic enzymes Free Radic Biol Med, 2014 ; 75 Suppl 1 : S23
Pakula, A., Schneider, J., Janke, J., Zacharias, U., Schulz, H., Hubner, N., Mahler, A., Spuler, A., Spuler, S., Carlier, P. G., Boschmann, M. :
Altered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1) PLoS ONE, 2013 ; 8 (9) : e73573
Altered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1) PLoS ONE, 2013 ; 8 (9) : e73573
Perrin, L., Feasson, L., Furby, A., Laforet, P., Petit, F. M., Gautheron, V., Chabrier, S. :
PNPLA2 mutation: A paediatric case with early onset but indolent course Neuromuscul Disord, 2013 ; 23 (12) : 986-91
PNPLA2 mutation: A paediatric case with early onset but indolent course Neuromuscul Disord, 2013 ; 23 (12) : 986-91
Bucher, T., Colle, M. A., Wakeling, E., Dubreil, L., Fyfe, J., Briot-Nivard, D., Maquigneau, M., Raoul, S., Cherel, Y., Astord, S., Duque, S., Marais, T., Voit, T., Moullier, P., Barkats, M., Joussemet, B. :
scAAV9 Intracisternal Delivery Results in Efficient Gene Transfer to the Central Nervous System of a Feline Model of Motor Neuron Disease Hum Gene Ther, 2013 ; 24 (7) : 670-682
scAAV9 Intracisternal Delivery Results in Efficient Gene Transfer to the Central Nervous System of a Feline Model of Motor Neuron Disease Hum Gene Ther, 2013 ; 24 (7) : 670-682
Thuault, S., Hayashi, S., Lagirand-Cantaloube, J., Plutoni, C., Comunale, F., Delattre, O., Relaix, F., Gauthier-Rouviere, C. :
P-cadherin is a direct PAX3-FOXO1A target involved in alveolar rhabdomyosarcoma aggressiveness Oncogene, 2013 ; 32 (15) : 1876-87
P-cadherin is a direct PAX3-FOXO1A target involved in alveolar rhabdomyosarcoma aggressiveness Oncogene, 2013 ; 32 (15) : 1876-87
Malfatti, E., Laforet, P., Jardel, C., Stojkovic, T., Behin, A., Eymard, B., Lombes, A., Benmalek, A., Becane, H. M., Berber, N., Meune, C., Duboc, D., Wahbi, K. :
High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation Neurology, 2013 ; 80 (1) : 100-105
High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation Neurology, 2013 ; 80 (1) : 100-105
