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
Publications (1181)
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
Holt, I., Duong, N. T., Zhang, Q., Lam le, T., Sewry, C. A., Mamchaoui, K., Shanahan, C. M., Morris, G. E. :
Specific localization of nesprin-1-alpha2, the short isoform of nesprin-1 with a KASH domain, in developing, fetal and regenerating muscle, using a new monoclonal antibody BMC Cell Biol, 2016 ; 17 (1) : 26
Specific localization of nesprin-1-alpha2, the short isoform of nesprin-1 with a KASH domain, in developing, fetal and regenerating muscle, using a new monoclonal antibody BMC Cell Biol, 2016 ; 17 (1) : 26
Weiss, J. M., Robinet, M., Aricha, R., Cufi, P., Villeret, B., Lantner, F., Shachar, I., Fuchs, S., Souroujon, M. C., Berrih-Aknin, S., Le Panse, R. :
Novel CXCL13 transgenic mouse: inflammation drives pathogenic effect of CXCL13 in experimental myasthenia gravis Oncotarget, 2016 ; 7 (7) : 7550-62
Novel CXCL13 transgenic mouse: inflammation drives pathogenic effect of CXCL13 in experimental myasthenia gravis Oncotarget, 2016 ; 7 (7) : 7550-62
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) :
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
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
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
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report BMC Med Genet, 2016 ; 17 (1) : 66
