Caruso, N., Herberth, B., Bartoli, M., Puppo, F., Dumonceaux, J., Zimmermann, A., Denadai, S., Lebosse, M., Roche, S., Geng, L., Magdinier, F., Attarian, S., Bernard, R., Maina, F., Levy, N., Helmbacher, F. :
Deregulation of the Protocadherin Gene FAT1 Alters Muscle Shapes: Implications for the Pathogenesis of Facioscapulohumeral Dystrophy
PLoS Genet, 2013 ; 9 (6) : e1003550
Publications (1184)
Nebel, M., Schwoerer, A. P., Warszta, D., Siebrands, C. C., Limbrock, A. C., Swarbrick, J. M., Fliegert, R., Weber, K., Bruhn, S., Hohenegger, M., Geisler, A., Herich, L., Schlegel, S., Carrier, L., Eschenhagen, T., Potter, B. V., Ehmke, H., Guse, A. H. :
NAADP mediated calcium signalling and arrhythmias in the heart evoked by beta-adrenergic stimulation J Biol Chem, 2013 ; 288 (22) : 16017-16030
NAADP mediated calcium signalling and arrhythmias in the heart evoked by beta-adrenergic stimulation J Biol Chem, 2013 ; 288 (22) : 16017-16030
Benkhelifa-Ziyyat, S., Besse, A., Roda, M., Duque, S., Astord, S., Carcenac, R., Marais, T., Barkats, M. :
Intramuscular scAAV9-SMN Injection Mediates Widespread Gene Delivery to the Spinal Cord and Decreases Disease Severity in SMA Mice Mol Ther, 2013 ; 21 (2) : 282-90
Intramuscular scAAV9-SMN Injection Mediates Widespread Gene Delivery to the Spinal Cord and Decreases Disease Severity in SMA Mice Mol Ther, 2013 ; 21 (2) : 282-90
Willis, T. A., Hollingsworth, K. G., Coombs, A., Sveen, M. L., Andersen, S., Stojkovic, T., Eagle, M., Mayhew, A., de Sousa, P. L., Dewar, L., Morrow, J. M., Sinclair, C. D., Thornton, J. S., Bushby, K., Lochmuller, H., Hanna, M. G., Hogrel, J. Y., Carlier, P. G., Vissing, J., Straub, V. :
Quantitative Muscle MRI as an Assessment Tool for Monitoring Disease Progression in LGMD2I: A Multicentre Longitudinal Study PLoS ONE, 2013 ; 8 (8) : e70993
Quantitative Muscle MRI as an Assessment Tool for Monitoring Disease Progression in LGMD2I: A Multicentre Longitudinal Study PLoS ONE, 2013 ; 8 (8) : e70993
Popplewell, L., Koo, T., Leclerc, X., Duclert, A., Mamchaoui, K., Gouble, A., Mouly, V., Voit, T., Paques, F., Cedrone, F., Isman, O., Yanez-Munoz, R. J., Dickson, G. :
Gene correction of a duchenne muscular dystrophy mutation by meganuclease-enhanced exon knock-in Hum Gene Ther, 2013 ; 24 (7) : 692-701
Gene correction of a duchenne muscular dystrophy mutation by meganuclease-enhanced exon knock-in Hum Gene Ther, 2013 ; 24 (7) : 692-701
Le Hir, M., Goyenvalle, A., Peccate, C., Precigout, G., Davies, K. E., Voit, T., Garcia, L., Lorain, S. :
AAV Genome Loss From Dystrophic Mouse Muscles During AAV-U7 snRNA-mediated Exon-skipping Therapy Mol Ther, 2013 ; 21 (8) : 1551-1558
AAV Genome Loss From Dystrophic Mouse Muscles During AAV-U7 snRNA-mediated Exon-skipping Therapy Mol Ther, 2013 ; 21 (8) : 1551-1558
Hourde, C., Joanne, P., Medja, F., Mougenot, N., Jacquet, A., Mouisel, E., Pannerec, A., Hatem, S., Butler-Browne, G., Agbulut, O., Ferry, A. :
Voluntary Physical Activity Protects from Susceptibility to Skeletal Muscle Contraction-Induced Injury But Worsens Heart Function in mdx Mice Am J Pathol, 2013 ; 182 (5) : 1509-1518
Voluntary Physical Activity Protects from Susceptibility to Skeletal Muscle Contraction-Induced Injury But Worsens Heart Function in mdx Mice Am J Pathol, 2013 ; 182 (5) : 1509-1518
Romero, N. B., Clarke, N. F. :
Congenital myopathies Handb Clin Neurol, 2013 ; 113 : 1321-36
Congenital myopathies Handb Clin Neurol, 2013 ; 113 : 1321-36
Servais, L., Baudoin, H., Zehrouni, K., Richard, P., Sternberg, D., Fournier, E., Eymard, B., Stojkovic, T. :
Pregnancy in congenital myasthenic syndrome J Neurol, 2013 ; 260 (3) : 815-819
Pregnancy in congenital myasthenic syndrome J Neurol, 2013 ; 260 (3) : 815-819
Donadille, B., D'Anella, P., Auclair, M., Uhrhammer, N., Sorel, M., Grigorescu, R., Ouzounian, S., Cambonie, G., Boulot, P., Laforet, P., Carbonne, B., Christin-Maitre, S., Bignon, Y. J., Vigouroux, C. :
Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome Orphanet J Rare Dis, 2013 ; 8 (1) : 106
Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome Orphanet J Rare Dis, 2013 ; 8 (1) : 106
