Publications (1184)

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
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
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
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
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) :
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
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