Publications (1181)

Puzzo, F., Colella, P., Biferi, M. G., Bali, D., Paulk, N. K., Vidal, P., Collaud, F., Simon-Sola, M., Charles, S., Hardet, R., Leborgne, C., Meliani, A., Cohen-Tannoudji, M., Astord, S., Gjata, B., Sellier, P., van Wittenberghe, L., Vignaud, A., Boisgerault, F., Barkats, M., Laforet, P., Kay, M. A., Koeberl, D. D., Ronzitti, G., Mingozzi, F. :
Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid alpha-glucosidase Sci Transl Med, 2017 ; 9 (418) :
Attia, M., Maurer, M., Robinet, M., Le Grand, F., Fadel, E., Le Panse, R., Butler-Browne, G., Berrih-Aknin, S. :
Muscle satellite cells are functionally impaired in myasthenia gravis: consequences on muscle regeneration Acta Neuropathol, 2017 ; (SP) :
Querin, G., Corcia, P., Lenglet, T., Stojkovic, T., Leguern, E., Cazeneuve, C., Pradat, P. F. :
Motor neuron disease of very long disease duration or Charcot-Marie-Tooth disease? A novel phenotype related to the SOD1 p.E22G variant Rev Neurol (Paris), 2017 ; (SP) :
Batonnet-Pichon, S., Behin, A., Cabet, E., Delort, F., Vicart, P., Lilienbaum, A. :
Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches J Neuromuscul Dis, 2017 ; 4 (1) : 1-15
Vasli, N., Harris, E., Karamchandani, J., Bareke, E., Majewski, J., Romero, N. B., Stojkovic, T., Barresi, R., Tasfaout, H., Charlton, R., Malfatti, E., Bohm, J., Marini-Bettolo, C., Choquet, K., Dicaire, M. J., Shao, Y. H., Topf, A., O'Ferrall, E., Eymard, B., Straub, V., Blanco, G., Lochmuller, H., Brais, B., Laporte, J., Tetreault, M. :
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion Brain, 2017 ; 140 (Pt 1) : 37-48
Kutchukian, C., Szentesi, P., Allard, B., Trochet, D., Beuvin, M., Berthier, C., Tourneur, Y., Guicheney, P., Csernoch, L., Bitoun, M., Jacquemond, V. :
Impaired excitation-contraction coupling in muscle fibres from the dynamin2R465W mouse model of centronuclear myopathy J Physiol, 2017 ; (SP) :
Bauche, S., Vellieux, G., Sternberg, D., Fontenille, M. J., De Bruyckere, E., Davoine, C. S., Brochier, G., Messeant, J., Wolf, L., Fardeau, M., Lacene, E., Romero, N., Koenig, J., Fournier, E., Hantai, D., Streichenberger, N., Manel, V., Lacour, A., Nadaj-Pakleza, A., Sukno, S., Bouhour, F., Laforet, P., Fontaine, B., Strochlic, L., Eymard, B., Chevessier, F., Stojkovic, T., Nicole, S. :
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy J Neurol, 2017 ; 264 (8) : 1791-1803
Mauhin, W., Mariampillai, K., Allenbach, Y., Charuel, J. L., Musset, L., Benveniste, O. :
Anti-mitochondrial antibodies are not a hallmark of severity in idiopathic inflammatory myopathies Joint Bone Spine, 2017 ; (SP) :
Robinet, M., Maillard, S., Cron, M. A., Berrih-Aknin, S., Le Panse, R. :
Review on Toll-Like Receptor Activation in Myasthenia Gravis: Application to the Development of New Experimental Models Clin Rev Allergy Immunol, 2017 ; 52 (1) : 133-147
Matagne, V., Ehinger, Y., Saidi, L., Borges-Correia, A., Barkats, M., Bartoli, M., Villard, L., Roux, J. C. :
A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome Neurobiol Dis, 2017 ; 99 : 1-11