Nadaj-Pakleza, A. A., Vincitorio, C. M., Laforet, P., Eymard, B., Dion, E., Teijeira, S., Vietez, I., Jeanpierre, M., Navarro, C., Stojkovic, T. :
Permanent muscle weakness in MCArdle disease
Muscle Nerve, 2009 ; 40 (3) : 350-7
Publications (1184)
Zephir, H., Stojkovic, T., de Seze, J., Maurage, C. A., Peoc'h, K., Haik, S., Vermersch, P. :
Severe and rapidly evolving peripheral neuropathy revealing sporadic Creutzfeldt-Jakob disease J Neurol, 2009 ; 256 (1) : 134-6
Severe and rapidly evolving peripheral neuropathy revealing sporadic Creutzfeldt-Jakob disease J Neurol, 2009 ; 256 (1) : 134-6
Arbogast, S, Beuvin, M, Fraysse, B, Zhou, H, Muntoni, F, Ferreiro, A :
Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment. Ann Neurol, 2009 ; 65 (6) : 677-686
Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment. Ann Neurol, 2009 ; 65 (6) : 677-686
Douniol, M., Jacquette, A., Guile, J. M., Tanguy, M. L., Angeard, N., Heron, D., Plaza, M., Cohen, D. :
Psychiatric and cognitive phenotype in children and adolescents with myotonic dystrophy Eur Child Adolesc Psychiatry, 2009 ; 18 (12) : 705-715
Psychiatric and cognitive phenotype in children and adolescents with myotonic dystrophy Eur Child Adolesc Psychiatry, 2009 ; 18 (12) : 705-715
Lagha, M., Brunelli, S., Messina, G., Cumano, A., Kume, T., Relaix, F., Buckingham, M. E. :
Pax3:Foxc2 reciprocal repression in the somite modulates muscular versus vascular cell fate choice in multipotent progenitors Dev Cell, 2009 ; 17 (6) : 892-9
Pax3:Foxc2 reciprocal repression in the somite modulates muscular versus vascular cell fate choice in multipotent progenitors Dev Cell, 2009 ; 17 (6) : 892-9
Romero, N. B., Lehtokari, V. L., Quijano-Roy, S., Monnier, N., Claeys, K. G., Carlier, R. Y., Pellegrini, N., Orlikowski, D., Barois, A., Laing, N. G., Lunardi, J., Fardeau, M., Pelin, K., Wallgren-Pettersson, C. :
Core-rod myopathy caused by mutations in the nebulin gene Neurology, 2009 ; 73 (14) : 1159-61
Core-rod myopathy caused by mutations in the nebulin gene Neurology, 2009 ; 73 (14) : 1159-61
Bonnefont, J. P., Bastin, J., Behin, A., Djouadi, F. :
Bezafibrate for an inborn mitochondrial beta-oxidation defect N Engl J Med, 2009 ; 360 (8) : 838-40
Bezafibrate for an inborn mitochondrial beta-oxidation defect N Engl J Med, 2009 ; 360 (8) : 838-40
Fromes, Y. :
Anticoagulation et circulation extracorporelle : comment mieux adapter l’héparinothérapie ? IRBM, 2009 ; 30 (Supplement 1) : S3-S5
Anticoagulation et circulation extracorporelle : comment mieux adapter l’héparinothérapie ? IRBM, 2009 ; 30 (Supplement 1) : S3-S5
Mejat, A., Decostre, V., Li, J., Renou, L., Kesari, A., Hantai, D., Stewart, C. L., Xiao, X., Hoffman, E., Bonne, G., Misteli, T. :
Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy J Cell Biol, 2009 ; 184 (1) : 31-44
Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy J Cell Biol, 2009 ; 184 (1) : 31-44
van Dijk, S. J., Dooijes, D., Dos Remedios, C., Michels, M., Lamers, J. M., Winegrad, S., Schlossarek, S., Carrier, L., Ten Cate, F. J., Stienen, G. J., van der Velden, J. :
Cardiac Myosin-Binding Protein C Mutations and Hypertrophic Cardiomyopathy. Haploinsufficiency, Deranged Phosphorylation, and Cardiomyocyte Dysfunction Circulation, 2009 ; 119 : 1473-1483
Cardiac Myosin-Binding Protein C Mutations and Hypertrophic Cardiomyopathy. Haploinsufficiency, Deranged Phosphorylation, and Cardiomyocyte Dysfunction Circulation, 2009 ; 119 : 1473-1483
