Behin, A., Acquaviva-Bourdain, C., Souvannanorath, S., Streichenberger, N., Attarian, S., Bassez, G., Brivet, M., Fouilhoux, A., Labarre-Villa, A., Laquerriere, A., Perard, L., Kaminsky, P., Pouget, J., Rigal, O., Vanhulle, C., Eymard, B., Vianey-Saban, C., Laforet, P. :
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease
Rev Neurol (Paris), 2016 ; :
Publications (1181)
Cea, L. A., Bevilacqua, J. A., Arriagada, C., Cardenas, A. M., Bigot, A., Mouly, V., Saez, J. C., Caviedes, P. :
The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes BMC Cell Biol, 2016 ; 17 Suppl 1 : 15
The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes BMC Cell Biol, 2016 ; 17 Suppl 1 : 15
Ricotti, V., Evans, M. R., Sinclair, C. D., Butler, J. W., Ridout, D. A., Hogrel, J. Y., Emira, A., Morrow, J. M., Reilly, M. M., Hanna, M. G., Janiczek, R. L., Matthews, P. M., Yousry, T. A., Muntoni, F., Thornton, J. S. :
Upper Limb Evaluation in Duchenne Muscular Dystrophy: Fat-Water Quantification by MRI, Muscle Force and Function Define Endpoints for Clinical Trials PLoS ONE, 2016 ; 11 (9) : e0162542
Upper Limb Evaluation in Duchenne Muscular Dystrophy: Fat-Water Quantification by MRI, Muscle Force and Function Define Endpoints for Clinical Trials PLoS ONE, 2016 ; 11 (9) : e0162542
Kaplan, J C, Hamroun, D, Rivier, F, Bonne, G :
The 2017 version of the gene table of monogenic neuromuscular disorders (nuclear genome) Neuromuscul Disord, 2016 ; 26 (16) : 895-929
The 2017 version of the gene table of monogenic neuromuscular disorders (nuclear genome) Neuromuscul Disord, 2016 ; 26 (16) : 895-929
Hogrel, J. Y., Wary, C., Moraux, A., Azzabou, N., Decostre, V., Ollivier, G., Canal, A., Lilien, C., Ledoux, I., Annoussamy, M., Reguiba, N., Gidaro, T., Le Moing, A. G., Cardas, R., Voit, T., Carlier, P. G., Servais, L. :
Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophy Neurology, 2016 ; 86 (11) : 1022-30
Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophy Neurology, 2016 ; 86 (11) : 1022-30
Leger, J. M., Guimaraes-Costa, R., Muntean, C. :
Immunotherapy in Peripheral Neuropathies Neurotherapeutics, 2016 ; 13 (1) : 96-107
Immunotherapy in Peripheral Neuropathies Neurotherapeutics, 2016 ; 13 (1) : 96-107
Price, M. A., Barghout, V., Benveniste, O., Christopher-Stine, L., Corbett, A., de Visser, M., Hilton-Jones, D., Kissel, J. T., Lloyd, T. E., Lundberg, I. E., Mastaglia, F., Mozaffar, T., Needham, M., Schmidt, J., Sivakumar, K., DeMuro, C., Tseng, B. S. :
Mortality and Causes of Death in Patients with Sporadic Inclusion Body Myositis: Survey Study Based on the Clinical Experience of Specialists in Australia, Europe and the USA J Neuromuscul Dis, 2016 ; 3 (1) : 67-75
Mortality and Causes of Death in Patients with Sporadic Inclusion Body Myositis: Survey Study Based on the Clinical Experience of Specialists in Australia, Europe and the USA J Neuromuscul Dis, 2016 ; 3 (1) : 67-75
Malfatti, E., Romero, N. B. :
Nemaline myopathies: State of the art Rev Neurol (Paris), 2016 ; 172 (10) : 614-619
Nemaline myopathies: State of the art Rev Neurol (Paris), 2016 ; 172 (10) : 614-619
van der Ploeg, A., Carlier, P. G., Carlier, R. Y., Kissel, J. T., Schoser, B., Wenninger, S., Pestronk, A., Barohn, R. J., Dimachkie, M. M., Goker-Alpan, O., Mozaffar, T., Pena, L. D., Simmons, Z., Straub, V., Guglieri, M., Young, P., Boentert, M., Baudin, P. Y., Wens, S., Shafi, R., Bjartmar, C., Thurberg, B. L. :
Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study Mol Genet Metab, 2016 ; (SP) :
Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study Mol Genet Metab, 2016 ; (SP) :
Holt, I., Duong, N. T., Zhang, Q., Lam le, T., Sewry, C. A., Mamchaoui, K., Shanahan, C. M., Morris, G. E. :
Specific localization of nesprin-1-alpha2, the short isoform of nesprin-1 with a KASH domain, in developing, fetal and regenerating muscle, using a new monoclonal antibody BMC Cell Biol, 2016 ; 17 (1) : 26
Specific localization of nesprin-1-alpha2, the short isoform of nesprin-1 with a KASH domain, in developing, fetal and regenerating muscle, using a new monoclonal antibody BMC Cell Biol, 2016 ; 17 (1) : 26
