Guimaraes-Costa, R., Iancu Ferfoglia, R., Leonard-Louis, S., Ziegler, F., Magy, L., Fournier, E., Dubourg, O., Bouche, P., Maisonobe, T., Lacour, A., Moerman, A., Latour, P., Stojkovic, T. :
Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients
Eur J Neurol, 2017 ; 24 (3) : 530-538
Publications (1184)
Noury, J. B., Bohm, J., Peche, G. A., Guyant-Marechal, L., Bedat-Millet, A. L., Chiche, L., Carlier, R. Y., Malfatti, E., Romero, N. B., Stojkovic, T. :
Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation Neuromuscul Disord, 2017 ; 27 (1) : 78-82
Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation Neuromuscul Disord, 2017 ; 27 (1) : 78-82
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) :
Garibaldi, M., Bohm, J., Fattori, F., Koch, C., Surace, C., Ottaviani, P., Laschena, F., Laporte, J., Bertini, E., Antonini, G., Romero, N. B. :
Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation J Neuromuscul Dis, 2016 ; 3 (1) : 111-114
Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation J Neuromuscul Dis, 2016 ; 3 (1) : 111-114
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
Richard, I., Hogrel, J. Y., Stockholm, D., Payan, C. A., Fougerousse, F., Eymard, B., Mignard, C., Lopez de Munain, A., Fardeau, M., Urtizberea, J. A. :
Natural history of LGMD2A for delineating outcome measures in clinical trials Ann Clin Transl Neurol, 2016 ; 3 (4) : 248-65
Natural history of LGMD2A for delineating outcome measures in clinical trials Ann Clin Transl Neurol, 2016 ; 3 (4) : 248-65
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
Vilmont, V., Cadot, B., Ouanounou, G., Gomes, E. R. :
A system for studying mechanisms of neuromuscular junction development and maintenance Development, 2016 ; 143 (13) : 2464-77
A system for studying mechanisms of neuromuscular junction development and maintenance Development, 2016 ; 143 (13) : 2464-77
