Hicks, D., Lampe, A. K., Laval, S. H., Allamand, V., Jimenez-Mallebrera, C., Walter, M. C., Muntoni, F., Quijano-Roy, S., Richard, P., Straub, V., Lochmuller, H., Bushby, K. M. :
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue
Brain, 2009 ; 132 (Pt 1) : 147-55
Publications (1184)
Muntoni, F., Guicheney, P., Voit, T. :
158th ENMC international workshop on congenital muscular dystrophy (Xth international CMD workshop) 8th-10th February 2008 Naarden, The Netherlands Neuromuscul Disord, 2009 ; 19 (3) : 229-34
158th ENMC international workshop on congenital muscular dystrophy (Xth international CMD workshop) 8th-10th February 2008 Naarden, The Netherlands Neuromuscul Disord, 2009 ; 19 (3) : 229-34
Yanagisawa, A., Bouchet, C., Quijano-Roy, S., Vuillaumier-Barrot, S., Clarke, N., Odent, S., Rodriguez, D., Romero, N. B., Osawa, M., Endo, T., Lia, T. A., Seta, N., Guicheney, P. :
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation Eur J Med Genet, 2009 ; 52 (4) : 201-206
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation Eur J Med Genet, 2009 ; 52 (4) : 201-206
Ansseau, E., Laoudj-Chenivesse, D., Marcowycz, A., Tassin, A., Vanderplanck, C., Sauvage, S., Barro, M., Mahieu, I., Leroy, A., Leclercq, I., Mainfroid, V., Figlewicz, D., Mouly, V., Butler-Browne, G., Belayew, A., Coppee, F. :
DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation PLoS ONE, 2009 ; 4 (10) : e7482
DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation PLoS ONE, 2009 ; 4 (10) : e7482
Douillard-Guilloux, G., Mouly, V., Caillaud, C., Richard, E. :
Immortalization of murine muscle cells from lysosomal alpha-glucosidase deficient mice: a new tool to study pathophysiology and assess therapeutic strategies for Pompe disease Biochem Biophys Res Commun, 2009 ; 388 (2) : 333-338
Immortalization of murine muscle cells from lysosomal alpha-glucosidase deficient mice: a new tool to study pathophysiology and assess therapeutic strategies for Pompe disease Biochem Biophys Res Commun, 2009 ; 388 (2) : 333-338
Laforêt, P, Acquaviva-Bourdain, C, Rigal, O, Brivet, M, Penisson-Besnier, I, Chabrol, B, Chaigne, D, Boespflug-Tanguy, O, Laroche, C, Bedat-Millet, A L, Behin, A, Delevaux, I, Lombès, A, Andresen Brage, S, Eymard, B, Vianey-Saban, C :
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency Neuromuscul Disord, 2009 ; 19 (5) : 324-329
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency Neuromuscul Disord, 2009 ; 19 (5) : 324-329
Risson, V., Mazelin, L., Roceri, M., Sanchez, H., Moncollin, V., Corneloup, C., Richard-Bulteau, H., Vignaud, A., Baas, D., Defour, A., Freyssenet, D., Tanti, J. F., Le-Marchand-Brustel, Y., Ferrier, B., Conjard-Duplany, A., Romanino, K., Bauche, S., Hantai, D., Mueller, M., Kozma, S. C., Thomas, G., Ruegg, M. A., Ferry, A., Pende, M., Bigard, X., Koulmann, N., Schaeffer, L., Gangloff, Y. G. :
Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy J Cell Biol, 2009 ; 187 (6) : 859-74
Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy J Cell Biol, 2009 ; 187 (6) : 859-74
Blanc, F. X., Coirault, C., Oliviero, P., Lecarpentier, Y. :
Relaxation of tracheal smooth muscle is impaired in innate airway hyperresponsiveness Eur Respir J, 2009 ; 34 (2) : 417-24
Relaxation of tracheal smooth muscle is impaired in innate airway hyperresponsiveness Eur Respir J, 2009 ; 34 (2) : 417-24
Frikha, F., Rigolet, A., Behin, A., Fautrel, B., Herson, S., Benveniste, O. :
Efficacy of rituximab in refractory and relapsing myositis with anti-JO1 antibodies: a report of two cases Rheumatology (Oxford), 2009 ; 48 (9) : 1166-1168
Efficacy of rituximab in refractory and relapsing myositis with anti-JO1 antibodies: a report of two cases Rheumatology (Oxford), 2009 ; 48 (9) : 1166-1168
Marmursztejn, J., Vignaux, O., Goffinet, F., Cabanes, L., Duboc, D. :
Delayed-enhanced cardiac magnetic resonance imaging features in peripartum cardiomyopathy Int J Cardiol, 2009 ; 137 (3) : e63-4
Delayed-enhanced cardiac magnetic resonance imaging features in peripartum cardiomyopathy Int J Cardiol, 2009 ; 137 (3) : e63-4