Publications (1184)

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
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
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) :
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
Bohm, M., Wachtel, M., Marques, J. G., Streiff, N., Laubscher, D., Nanni, P., Mamchaoui, K., Santoro, R., Schafer, B. W. :
Helicase CHD4 is an epigenetic coregulator of PAX3-FOXO1 in alveolar rhabdomyosarcoma J Clin Invest, 2016 ; 126 (11) : 4237-4249
Bhattarai, S., Ghannam, K., Krause, S., Benveniste, O., Marg, A., de Bruin, G., Xin, B. T., Overkleeft, H. S., Spuler, S., Stenzel, W., Feist, E. :
The immunoproteasomes are key to regulate myokines and MHC class I expression in idiopathic inflammatory myopathies J Autoimmun, 2016 ; (SP) :
Bonne, G., Sole, G. :
La Societe Francaise de Myologie a du coeur. Med Sci (Paris), 2016 ; 32 Hors serie n degrees 2 : 5
Perovanovic, J., Dell'Orso, S., Gnochi, V. F., Jaiswal, J. K., Sartorelli, V., Vigouroux, C., Mamchaoui, K., Mouly, V., Bonne, G., Hoffman, E. P. :
Laminopathies disrupt epigenomic developmental programs and cell fate Sci Transl Med, 2016 ; 8 (335) : 335ra58
Gaillard, M. C., Puppo, F., Roche, S., Dion, C., Campana, E. S., Mariot, V., Chaix, C., Vovan, C., Mazaleyrat, K., Tasmadjian, A., Bernard, R., Dumonceaux, J., Attarian, S., Levy, N., Nguyen, K., Magdinier, F., Bartoli, M. :
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report BMC Med Genet, 2016 ; 17 (1) : 66
Guarani, V., Jardel, C., Chretien, D., Lombes, A., Benit, P., Labasse, C., Lacene, E., Bourillon, A., Imbard, A., Benoist, J. F., Dorboz, I., Gilleron, M., Goetzman, E. S., Gaignard, P., Slama, A., Elmaleh-Berges, M., Romero, N. B., Rustin, P., Ogier de Baulny, H., Paulo, J. A., Harper, J. W., Schiff, M. :
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease Elife, 2016 ; 5 : e17163