Tuffery-Giraud, S, Béroud, C, Leturcq, F, Ben Yaou, R, Hamroun, D, Michel-Calemard, L, Moizard, M P, Bernard, R, Cossée, M, Boisseau, P, Blayau, M, Creveaux, I, Guiochon-Mantel, A, de Martinville, B, Philippe, C, Monnier, N, Bieth, E, Khau van Kien, P, Desmet, F O, Humbertclaude, V, Kaplan, J C, Chelly, J, Claustres, M :
Genotype-phenotype analysis in 2405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase
Human Mutation, 2009 ; 30 (934-945) :
Publications (1184)
Claeys, K. G., Zuchner, S., Kennerson, M., Berciano, J., Garcia, A., Verhoeven, K., Storey, E., Merory, J. R., Bienfait, H. M., Lammens, M., Nelis, E., Baets, J., De Vriendt, E., Berneman, Z. N., De Veuster, I., Vance, J. M., Nicholson, G., Timmerman, V., De Jonghe, P. :
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy Brain, 2009 ; 132 (Pt 7) : 1741-52
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy Brain, 2009 ; 132 (Pt 7) : 1741-52
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
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue Brain, 2009 ; 132 (Pt 1) : 147-55
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
LaforĂȘt, 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, LombĂšs, 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
