Publications (1181)

Lacourpaille, L., Gross, R., Hug, F., Guevel, A., Pereon, Y., Magot, A., Hogrel, J. Y., Nordez, A. :
Effects of Duchenne muscular dystrophy on muscle stiffness and response to electrically-induced muscle contraction: A 12-month follow-up Neuromuscul Disord, 2017 ; 27 (3) : 214-220
Reyngoudt, H., Turk, S., Carlier, P. G. :
(1) H NMRS of carnosine combined with (31) P NMRS to better characterize skeletal muscle pH dysregulation in Duchenne muscular dystrophy NMR Biomed, 2017 ; (SP) :
Pires, V. B., Simoes, R., Mamchaoui, K., Carvalho, C., Carmo-Fonseca, M. :
Short (16-mer) locked nucleic acid splice-switching oligonucleotides restore dystrophin production in Duchenne Muscular Dystrophy myotubes PLoS ONE, 2017 ; 12 (7) : e0181065
Sochala, M., Wahbi, K., Sorbets, E., Lazarus, A., Becane, H. M., Stojkovic, T., Fayssoil, A., Laforet, P., Behin, A., Sroussi, M., Eymard, B., Duboc, D., Meune, C. :
Risk for Complications after Pacemaker or Cardioverter Defibrillator Implantations in Patients with Myotonic Dystrophy Type 1 J Neuromuscul Dis, 2017 ; (SP) :
Cerino, M., Gorokhova, S., Laforet, P., Ben Yaou, R., Salort-Campana, E., Pouget, J., Attarian, S., Eymard, B., Deleuze, J. F., Boland, A., Behin, A., Stojkovic, T., Bonne, G., Levy, N., Bartoli, M., Krahn, M. :
Genetic characterization of a French cohort of GNE-mutation negative inclusion body myopathy patients using exome sequencing Muscle Nerve, 2017 ; (SP) :
Belhomme, N., Maamar, A., Le Gallou, T., Minot-Myhie, M. C., Larralde, A., Champtiaux, N., Benveniste, O., Leonard-Louis, S., Decaux, O., Lescoat, A., Le Tulzo, Y. :
Rare myopathy associated to MGUS, causing heart failure and responding to chemotherapy Ann Hematol, 2017 ; 96 (4) : 695-696
Gimpel, P., Lee, Y. L., Sobota, R. M., Calvi, A., Koullourou, V., Patel, R., Mamchaoui, K., Nedelec, F., Shackleton, S., Schmoranzer, J., Burke, B., Cadot, B., Gomes, E. R. :
Nesprin-1alpha-Dependent Microtubule Nucleation from the Nuclear Envelope via Akap450 Is Necessary for Nuclear Positioning in Muscle Cells Curr Biol, 2017 ; 27 (19) : 2999-3009 e9
Gonzalez-Jamett, A. M., Baez-Matus, X., Olivares, M. J., Hinostroza, F., Guerra-Fernandez, M. J., Vasquez-Navarrete, J., Bui, M. T., Guicheney, P., Romero, N. B., Bevilacqua, J. A., Bitoun, M., Caviedes, P., Cardenas, A. M. :
Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells Sci Rep, 2017 ; 7 (1) : 4580
Thevenon, J., Laurent, G., Ader, F., Laforet, P., Klug, D., Duva Pentiah, A., Gouya, L., Maurage, C. A., Kacet, S., Eicher, J. C., Albuisson, J., Desnos, M., Bieth, E., Duboc, D., Martin, L., Reant, P., Picard, F., Bonithon-Kopp, C., Gautier, E., Binquet, C., Thauvin-Robinet, C., Faivre, L., Bouvagnet, P., Charron, P., Richard, P. :
High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations Europace, 2017 ; 19 (4) : 651-659
Guimaraes-Costa, R., Iancu Ferfoglia, R., Leonard-Louis, S., Ziegler, F., Magy, L., Fournier, E., Dubourg, O., Bouche, P., Maisonobe, T., Lacour, A., Moerman, A., Latour, P., Stojkovic, T. :
Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients Eur J Neurol, 2017 ; 24 (3) : 530-538