Garcin, B., Lenglet, T., Dubourg, O., Mesnage, V., Levy, R. :
Dropped head syndrome as a presenting sign of scleromyositis
J Neurol Sci, 2010 ; 292 (1-2) : 101-103
Publications (1184)
Muntoni, F., Voit, T :
The development of antisense oligonucleotide therapies for Duchenne muscular dystrophy: report on a TREAT-NMD workshop hosted by the European Medicines Agency (EMA), on September 25th 2009 Neuromuscul Disord, 2010 ; 20 (5) : 355-62
The development of antisense oligonucleotide therapies for Duchenne muscular dystrophy: report on a TREAT-NMD workshop hosted by the European Medicines Agency (EMA), on September 25th 2009 Neuromuscul Disord, 2010 ; 20 (5) : 355-62
Bitoun, M., Durieux, A. C., Prudhon, B., Bevilacqua, J. A., Herledan, A., Sakanyan, V., Urtizberea, A., Cartier, L., Romero, N. B., Guicheney, P. :
Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis Hum Mutat, 2009 ; 30 (10) : 1419-1427
Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis Hum Mutat, 2009 ; 30 (10) : 1419-1427
Friedrich, F. W., Bausero, P., Sun, Y., Treszl, A., Kramer, E., Juhr, D., Richard, P., Wegscheider, K., Schwartz, K., Brito, D., Arbustini, E., Waldenstrom, A., Isnard, R., Komajda, M., Eschenhagen, T., Carrier, L. :
A new polymorphism in human calmodulin III gene promoter is a potential modifier gene for familial hypertrophic cardiomyopathy Eur Heart J, 2009 ; 30 (13) : 1648-55
A new polymorphism in human calmodulin III gene promoter is a potential modifier gene for familial hypertrophic cardiomyopathy Eur Heart J, 2009 ; 30 (13) : 1648-55
Marmursztejn, J., Vignaux, O., Cohen, P., Guilpain, P., Pagnoux, C., Gouya, H., Mouthon, L., Legmann, P., Duboc, D., Guillevin, L. :
Impact of cardiac magnetic resonance imaging for assessment of Churg-Strauss syndrome: a cross-sectional study in 20 patients Clin Exp Rheumatol, 2009 ; 27 (1 Suppl 52) : S70-6
Impact of cardiac magnetic resonance imaging for assessment of Churg-Strauss syndrome: a cross-sectional study in 20 patients Clin Exp Rheumatol, 2009 ; 27 (1 Suppl 52) : S70-6
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) :
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) :
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
