Publications (1023)

Guiraud, S., Migeon, T., Ferry, A., Chen, Z., Ouchelouche, S., Verpont, M. C., Sado, Y., Allamand, V., Ronco, P., Plaisier, E. :
HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular Defect Am J Pathol, 2017 ; (SP) :
Matagne, V., Ehinger, Y., Saidi, L., Borges-Correia, A., Barkats, M., Bartoli, M., Villard, L., Roux, J. C. :
A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome Neurobiol Dis, 2017 ; 99 : 1-11
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 ; (SP) :
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 ; (SP) :
Mercier, S., Lornage, X., Malfatti, E., Marcorelles, P., Letournel, F., Boscher, C., Caillaux, G., Magot, A., Bohm, J., Boland, A., Deleuze, J. F., Romero, N., Pereon, Y., Laporte, J. :
Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A Neurology, 2017 ; (SP) :
Marsollier, A. C., Ciszewski, L., Mariot, V., Popplewell, L., Voit, T., Dickson, G., Dumonceaux, J. :
Antisense targeting of 3’end elements involved in DUX4 mRNA processing is an efficient therapeutic strategy for Facioscapulohumeral Dystrophy: a new gene silencing approach Hum Mol Genet, 2016 ; 25 (8) : 1468-78
Alves, S., Marais, T., Biferi, M. G., Furling, D., Marinello, M., El Hachimi, K., Cartier, N., Ruberg, M., Stevanin, G., Brice, A., Barkats, M., Sittler, A. :
Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins Mol Neurodegener, 2016 ; 11 (1) : 1-20
Laforet, P. :
What have we learned about glycogenosis in recent years? Rev Neurol (Paris), 2016 ; (SP) :
Fraysse, B., Guicheney, P., Bitoun, M. :
Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy Biol Open, 2016 ; 5 (11) : 1691-1696
Fayssoil, A., Ogna, A., Chaffaut, C., Chevret, S., Guimaraes-Costa, R., Leturcq, F., Wahbi, K., Prigent, H., Lofaso, F., Nardi, O., Clair, B., Behin, A., Stojkovic, T., Laforet, P., Orlikowski, D., Annane, D. :
Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D PLoS ONE, 2016 ; 11 (4) : e0153095