Bitoun, M, Bevilacqua, J A, Eymard, B, Prudhon, B, Fardeau, M, Guicheney, P, Romero, N B :
A new Centronuclear Myopathy phenotype due to a novel Dynamin 2 mutation.
Neurology, 2009 ; 72 (1) : 93-95
Publications (1181)
Eymard, B, HantaĂŻ, D :
Syndromes myasthéniques congénitaux : phénotype et physiopathologie Les Cahiers de Myologie, 2009 ; (1) : 26-37
Syndromes myasthéniques congénitaux : phénotype et physiopathologie Les Cahiers de Myologie, 2009 ; (1) : 26-37
Makri, S., Clarke, N. F., Richard, P., Maugenre, S., Demay, L., Bonne, G., Guicheney, P. :
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy Neuromuscul Disord, 2009 ; 19 (1) : 26-8
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy Neuromuscul Disord, 2009 ; 19 (1) : 26-8
Thornell, L. E., Lindstom, M., Renault, V., Klein, A., Mouly, V., Ansved, T., Butler-Browne, G., Furling, D. :
Satellite Cell Dysfunction Contributes to the Progressive Muscle Atrophy in Myotonic Dystrophy Type 1 Neuropathol Appl Neurobiol, 2009 ; 35 (6) : 603-613
Satellite Cell Dysfunction Contributes to the Progressive Muscle Atrophy in Myotonic Dystrophy Type 1 Neuropathol Appl Neurobiol, 2009 ; 35 (6) : 603-613
Claeys, K. G., van der Ven, P. F., Behin, A., Stojkovic, T., Eymard, B., Dubourg, O., Laforet, P., Faulkner, G., Richard, P., Vicart, P., Romero, N. B., Stoltenburg, G., Udd, B., Fardeau, M., Voit, T., Furst, D. O. :
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study Acta Neuropathol, 2009 ; 117 (3) : 293-307
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study Acta Neuropathol, 2009 ; 117 (3) : 293-307
HĂ©ron, D, Gargiulo, M :
Tests génétiques et médecine prédictive : quels enjeux ? Laennec, 2009 ; 3 : 21-38
Tests génétiques et médecine prédictive : quels enjeux ? Laennec, 2009 ; 3 : 21-38
Mulders, S. A., van den Broek, W. J., Wheeler, T. M., Croes, H. J., van Kuik-Romeijn, P., de Kimpe, S. J., Furling, D., Platenburg, G. J., Gourdon, G., Thornton, C. A., Wieringa, B., Wansink, D. G. :
Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy Proc Natl Acad Sci U S A, 2009 ; 106 (33) : 13915-20
Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy Proc Natl Acad Sci U S A, 2009 ; 106 (33) : 13915-20
Wray, D. W., Nishiyama, S. K., Monnet, A., Wary, C., Duteil, S. S., Carlier, P. G., Richardson, R. S. :
Antioxidants and aging: NMR-based evidence of improved skeletal muscle perfusion and energetics Am J Physiol Heart Circ Physiol, 2009 ; 297 (5) : H1870-5
Antioxidants and aging: NMR-based evidence of improved skeletal muscle perfusion and energetics Am J Physiol Heart Circ Physiol, 2009 ; 297 (5) : H1870-5
Djouadi, F., Lecarpentier, Y., Hebert, J. L., Charron, P., Bastin, J., Coirault, C. :
A potential link between peroxisome proliferator-activated receptor signalling and the pathogenesis of arrhythmogenic right ventricular cardiomyopathy Cardiovasc Res, 2009 ; 84 (1) : 83-90
A potential link between peroxisome proliferator-activated receptor signalling and the pathogenesis of arrhythmogenic right ventricular cardiomyopathy Cardiovasc Res, 2009 ; 84 (1) : 83-90
Krahn, M., Borges, A., Navarro, C., Schuit, R., Stojkovic, T., Torrente, Y., Wein, N., Pecheux, C., Levy, N. :
Identification of Different Genomic Deletions and One Duplication in the Dysferlin Gene Using Multiplex Ligation-Dependent Probe Amplification and Genomic Quantitative PCR Genet Test Mol Biomarkers, 2009 ; 13 (4) : 439-442
Identification of Different Genomic Deletions and One Duplication in the Dysferlin Gene Using Multiplex Ligation-Dependent Probe Amplification and Genomic Quantitative PCR Genet Test Mol Biomarkers, 2009 ; 13 (4) : 439-442
