Malerba, A., Klein, P., Bachtarzi, H., Jarmin, S. A., Cordova, G., Ferry, A., Strings, V., Espinoza, M. P., Mamchaoui, K., Blumen, S. C., St Guily, J. L., Mouly, V., Graham, M., Butler-Browne, G., Suhy, D. A., Trollet, C., Dickson, G. :
PABPN1 gene therapy for oculopharyngeal muscular dystrophy
Nat Commun, 2017 ; 8 : 14848
Publications (1181)
van Agtmaal, E. L., Andre, L. M., Willemse, M., Cumming, S. A., van Kessel, I. D., van den Broek, W. J., Gourdon, G., Furling, D., Mouly, V., Monckton, D. G., Wansink, D. G., Wieringa, B. :
CRISPR/Cas9-Induced (CTGCAG)n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing Mol Ther, 2017 ; 25 (1) : 24-43
CRISPR/Cas9-Induced (CTGCAG)n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing Mol Ther, 2017 ; 25 (1) : 24-43
Truffault, F., de Montpreville, V., Eymard, B., Sharshar, T., Le Panse, R., Berrih-Aknin, S. :
Thymic Germinal Centers and Corticosteroids in Myasthenia Gravis: an Immunopathological Study in 1035 Cases and a Critical Review Clin Rev Allergy Immunol, 2017 ; 52 (1) : 108-124
Thymic Germinal Centers and Corticosteroids in Myasthenia Gravis: an Immunopathological Study in 1035 Cases and a Critical Review Clin Rev Allergy Immunol, 2017 ; 52 (1) : 108-124
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) :
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) :
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) :
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
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
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) :
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
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
