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
Publications (1184)
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
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
De Jong, A., Carreira, S., Na, N., Carillion, A., Jiang, C., Beuvin, M., Lacorte, J. M., Bonnefont-Rousselot, D., Riou, B., Coirault, C. :
Diaphragmatic function is enhanced in fatty and diabetic fatty rats PLoS ONE, 2017 ; 12 (3) : e0174043
Diaphragmatic function is enhanced in fatty and diabetic fatty rats PLoS ONE, 2017 ; 12 (3) : e0174043
Fayssoil, A., Stojkovic, T., Behin, A., Ogna, A., Lofaso, F., Laforet, P., Wahbi, K., Prigent, H., Duboc, D., Orlikowski, D., Eymard, B., Annane, D. :
Value of diaphragmatic echography for predicting respiratory insufficiency in 123 patients with neuromuscular disorders (O12). Proceedings of Reanimation 2017, the French Intensive Care Society International Congress, Paris, France, 11-13 january 2017 Ann Intensive Care, 2017 ; 7 (Suppl 1) : 7-8
Value of diaphragmatic echography for predicting respiratory insufficiency in 123 patients with neuromuscular disorders (O12). Proceedings of Reanimation 2017, the French Intensive Care Society International Congress, Paris, France, 11-13 january 2017 Ann Intensive Care, 2017 ; 7 (Suppl 1) : 7-8
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) :
