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)
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) :
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
Le Dour, C., Macquart, C., Sera, F., Homma, S., Bonne, G., Morrow, J. P., Worman, H. J., Muchir, A. :
Decreased WNT/beta-catenin signalling contributes to the pathogenesis of dilated cardiomyopathy caused by mutations in the lamin a/C gene Hum Mol Genet, 2017 ; 26 (2) : 333-343
Decreased WNT/beta-catenin signalling contributes to the pathogenesis of dilated cardiomyopathy caused by mutations in the lamin a/C gene Hum Mol Genet, 2017 ; 26 (2) : 333-343
Marion, S., Behin, A., Attarian, S. :
Myopathie GNE : L’échec averé de l’acide sialique… et après ? Med Sci (Paris), 2017 ; 33 Hors Serie : 55-56
Myopathie GNE : L’échec averé de l’acide sialique… et après ? Med Sci (Paris), 2017 ; 33 Hors Serie : 55-56
Santos-Zas, I., Negroni, E., Mamchaoui, K., Mosteiro, C. S., Gallego, R., Butler-Browne, G. S., Pazos, Y., Mouly, V., Camina, J. P. :
Obestatin Increases the Regenerative Capacity of Human Myoblasts Transplanted Intramuscularly in an Immunodeficient Mouse Model Mol Ther, 2017 ; (SP) :
Obestatin Increases the Regenerative Capacity of Human Myoblasts Transplanted Intramuscularly in an Immunodeficient Mouse Model Mol Ther, 2017 ; (SP) :
Mankodi, A., Azzabou, N., Bulea, T., Reyngoudt, H., Shimellis, H., Ren, Y., Kim, E., Fischbeck, K. H., Carlier, P. G. :
Skeletal muscle water T2 as a biomarker of disease status and exercise effects in patients with Duchenne muscular dystrophy Neuromuscul Disord, 2017 ; 27 (8) : 705-714
Skeletal muscle water T2 as a biomarker of disease status and exercise effects in patients with Duchenne muscular dystrophy Neuromuscul Disord, 2017 ; 27 (8) : 705-714
