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) :
Publications (1181)
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
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) :
Anti-mitochondrial antibodies are not a hallmark of severity in idiopathic inflammatory myopathies Joint Bone Spine, 2017 ; (SP) :
Echaniz-Laguna, A., Geuens, T., Petiot, P., Pereon, Y., Adriaenssens, E., Haidar, M., Capponi, S., Maisonobe, T., Fournier, E., Dubourg, O., Degos, B., Salachas, F., Lenglet, T., Eymard, B., Delmont, E., Pouget, J., Morales, R., Goizet, C., Latour, P., Timmerman, V., Stojkovic, T. :
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic and Functional Insights into Novel Mutations Hum Mutat, 2017 ; 38 (5) : 556-568
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic and Functional Insights into Novel Mutations Hum Mutat, 2017 ; 38 (5) : 556-568
Gerhalter, T., Carlier, P. G., Marty, B. :
Acute changes in extracellular volume fraction in skeletal muscle monitored by 23Na NMR spectroscopy Physiol Rep, 2017 ; 5 (16) : e13380
Acute changes in extracellular volume fraction in skeletal muscle monitored by 23Na NMR spectroscopy Physiol Rep, 2017 ; 5 (16) : e13380
Biferi, M. G., Cohen-Tannoudji, M., Cappelletto, A., Giroux, B., Roda, M., Astord, S., Marais, T., Bos, C., Voit, T., Ferry, A., Barkats, M. :
A New AAV10-U7-Mediated Gene Therapy Prolongs Survival and Restores Function in an ALS Mouse Model Mol Ther, 2017 ; (SP) :
A New AAV10-U7-Mediated Gene Therapy Prolongs Survival and Restores Function in an ALS Mouse Model Mol Ther, 2017 ; (SP) :
Mack, D. L., Poulard, K., Goddard, M. A., Latournerie, V., Snyder, J. M., Grange, R. W., Elverman, M. R., Denard, J., Veron, P., Buscara, L., Le Bec, C., Hogrel, J. Y., Brezovec, A. G., Meng, H., Yang, L., Liu, F., O'Callaghan, M., Gopal, N., Kelly, V. E., Smith, B. K., Strande, J. L., Mavilio, F., Beggs, A. H., Mingozzi, F., Lawlor, M. W., Buj-Bello, A., Childers, M. K. :
Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs Mol Ther, 2017 ; 25 (4) : 839-854
Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs Mol Ther, 2017 ; 25 (4) : 839-854
Bohm, J., Bulla, M., Urquhart, J. E., Malfatti, E., Williams, S. G., O'Sullivan, J., Szlauer, A., Koch, C., Baranello, G., Mora, M., Ripolone, M., Violano, R., Moggio, M., Kingston, H., Dawson, T., DeGoede, C. G., Nixon, J., Boland, A., Deleuze, J. F., Romero, N., Newman, W. G., Demaurex, N., Laporte, J. :
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy Hum Mutat, 2017 ; 38 (4) : 426-438
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy Hum Mutat, 2017 ; 38 (4) : 426-438
Mariot, V., Joubert, R., Hourde, C., Feasson, L., Hanna, M., Muntoni, F., Maisonobe, T., Servais, L., Bogni, C., Le Panse, R., Benvensite, O., Stojkovic, T., Machado, P. M., Voit, T., Buj-Bello, A., Dumonceaux, J. :
Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches Nat Commun, 2017 ; 8 (1) : 1859
Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches Nat Commun, 2017 ; 8 (1) : 1859
Tard, C., Tiffreau, V., Jaillette, E., Jouen, F., Nelson, I., Bonne, G., Yaou, R. B., Romero, N., Vallee, L., Vermersch, P., Nguyen, S., Maurage, C. A., Cuisset, J. M. :
Anti-HMGCR Antibody-Related Necrotizing Autoimmune Myopathy Mimicking Muscular Dystrophy Neuropediatrics, 2017 ; 48 (6) : 473-476
Anti-HMGCR Antibody-Related Necrotizing Autoimmune Myopathy Mimicking Muscular Dystrophy Neuropediatrics, 2017 ; 48 (6) : 473-476
