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) :
Publications (1181)
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
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
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
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
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
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
Noury, J. B., Bohm, J., Peche, G. A., Guyant-Marechal, L., Bedat-Millet, A. L., Chiche, L., Carlier, R. Y., Malfatti, E., Romero, N. B., Stojkovic, T. :
Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation Neuromuscul Disord, 2017 ; 27 (1) : 78-82
Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation Neuromuscul Disord, 2017 ; 27 (1) : 78-82
Ibanez-Julia, M. J., Berzero, G., Reyes-Botero, G., Maisonobe, T., Lenglet, T., Slim, M., Louis, S., Balaguer, A., Sanson, M., Le Guern, E., Latour, P., Ricard, D., Stojkovic, T., Psimaras, D. :
Antineoplastic agents exacerbating Charcot Marie tooth disease: red flags to avoid permanent disability Acta Oncol, 2017 ; (SP) : 1-9
Antineoplastic agents exacerbating Charcot Marie tooth disease: red flags to avoid permanent disability Acta Oncol, 2017 ; (SP) : 1-9
Fledrich, R., Mannil, M., Leha, A., Ehbrecht, C., Solari, A., Pelayo-Negro, A. L., Berciano, J., Schlotter-Weigel, B., Schnizer, T. J., Prukop, T., Garcia-Angarita, N., Czesnik, D., Haberlova, J., Mazanec, R., Paulus, W., Beissbarth, T., Walter, M. C., Triaal, C., Hogrel, J. Y., Dubourg, O., Schenone, A., Baets, J., De Jonghe, P., Shy, M. E., Horvath, R., Pareyson, D., Seeman, P., Young, P., Sereda, M. W. :
Biomarkers predict outcome in Charcot- Marie-Tooth disease 1A J Neurol Neurosurg Psychiatry, 2017 ; 88 (11) : 941-952
Biomarkers predict outcome in Charcot- Marie-Tooth disease 1A J Neurol Neurosurg Psychiatry, 2017 ; 88 (11) : 941-952
Vihola, A., Luque, H., Savarese, M., Penttila, S., Lindfors, M., Leturcq, F., Eymard, B., Tasca, G., Brais, B., Conte, T., Charton, K., Richard, I., Udd, B. :
Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy Neuropathol Appl Neurobiol, 2017 ; (SP) :
Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy Neuropathol Appl Neurobiol, 2017 ; (SP) :
