Cirak, S., Foley, A. R., Herrmann, R., Willer, T., Yau, S., Stevens, E., Torelli, S., Brodd, L., Kamynina, A., Vondracek, P., Roper, H., Longman, C., Korinthenberg, R., Marrosu, G., Nurnberg, P., Michele, D. E., Plagnol, V., Hurles, M., Moore, S. A., Sewry, C. A., Campbell, K. P., Voit, T., Muntoni, F. :
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies
Brain, 2013 ; 136 (Pt 1) : 269-281
Publications (1181)
Desdouits, M., Munier, S., Prevost, M. C., Jeannin, P., Butler-Browne, G., Ozden, S., Gessain, A., Van Der Werf, S., Naffakh, N., Ceccaldi, P. E. :
Productive Infection of Human Skeletal Muscle Cells by Pandemic and Seasonal Influenza A(H1N1) Viruses PLoS ONE, 2013 ; 8 (11) : e79628
Productive Infection of Human Skeletal Muscle Cells by Pandemic and Seasonal Influenza A(H1N1) Viruses PLoS ONE, 2013 ; 8 (11) : e79628
Foley, A. R., Quijano-Roy, S., Collins, J., Straub, V., McCallum, M., Deconinck, N., Mercuri, E., Pane, M., D'Amico, A., Bertini, E., North, K., Ryan, M. M., Richard, P., Allamand, V., Hicks, D., Lamande, S., Hu, Y., Gualandi, F., Auh, S., Muntoni, F., Bonnemann, C. G. :
Natural history of pulmonary function in collagen VI-related myopathies Brain, 2013 ; 136 (Pt 12) : 3625-33
Natural history of pulmonary function in collagen VI-related myopathies Brain, 2013 ; 136 (Pt 12) : 3625-33
Bijlsma, A. Y., Meskers, M. C., Molendijk, M., Westendorp, R. G., Sipila, S., Stenroth, L., Sillanpaa, E., McPhee, J. S., Jones, D. A., Narici, M., Gapeyeva, H., Paasuke, M., Seppet, E., Voit, T., Barnouin, Y., Hogrel, J. Y., Butler-Browne, G., Maier, A. B. :
Diagnostic measures for sarcopenia and bone mineral density Osteoporos Int, 2013 ; 24 (10) : 2681-91
Diagnostic measures for sarcopenia and bone mineral density Osteoporos Int, 2013 ; 24 (10) : 2681-91
Zhou, H., Rokach, O., Feng, L., Munteanu, I., Mamchaoui, K., Wilmshurst, J. M., Sewry, C., Manzur, A. Y., Pillay, K., Mouly, V., Duchen, M., Jungbluth, H., Treves, S., Muntoni, F. :
RYR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling Hum Mutat, 2013 ; 34 (7) : 986-996
RYR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling Hum Mutat, 2013 ; 34 (7) : 986-996
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
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
