Publications (1181)

Alameddine, H. S., Morgan, J. E. :
Matrix Metalloproteinases and Tissue Inhibitor of Metalloproteinases in Inflammation and Fibrosis of Skeletal Muscles J Neuromuscul Dis, 2016 ; 3 (4) : 455-473
Schiff, M., Veauville-Merllie, A., Su, C. H., Tzagoloff, A., Rak, M., Ogier de Baulny, H., Boutron, A., Smedts-Walters, H., Romero, N. B., Rigal, O., Rustin, P., Vianey-Saban, C., Acquaviva-Bourdain, C. :
SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance N Engl J Med, 2016 ; 374 (8) : 795-7
Preskey, D., Allison, T. F., Jones, M., Mamchaoui, K., Unger, C. :
Synthetically modified mRNA for efficient and fast human iPS cell generation and direct transdifferentiation to myoblasts Biochem Biophys Res Commun, 2016 ; 473 (3) : 743-51
Maggio, I., Stefanucci, L., Janssen, J. M., Liu, J., Chen, X., Mouly, V., Goncalves, M. A. :
Selection-free gene repair after adenoviral vector transduction of designer nucleases: rescue of dystrophin synthesis in DMD muscle cell populations Nucleic Acids Res, 2016 ; 44 (3) : 1449-70
Roy, P., Rau, F., Ochala, J., Messeant, J., Fraysse, B., Laine, J., Agbulut, O., Butler-Browne, G., Furling, D., Ferry, A. :
Dystrophin restoration therapy improves both the reduced excitability and the force drop induced by lengthening contractions in dystrophic mdx skeletal muscle Skelet Muscle, 2016 ; 6 (23) : 1-17
Stojkovic, T. :
Hereditary neuropathies: An update Rev Neurol (Paris), 2016 ; 172 (12) : 775-778
Kaplan, J C, Hamroun, D, Rivier, F, Bonne, G :
The 2017 version of the gene table of monogenic neuromuscular disorders (nuclear genome) Neuromuscul Disord, 2016 ; 26 (16) : 895-929
El Mendili, M. M., Lenglet, T., Stojkovic, T., Behin, A., Guimaraes-Costa, R., Salachas, F., Meininger, V., Bruneteau, G., Le Forestier, N., Laforet, P., Lehericy, S., Benali, H., Pradat, P. F. :
Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA PLoS ONE, 2016 ; 11 (4) : e0152439
Redelsperger, F., Raddi, N., Bacquin, A., Vernochet, C., Mariot, V., Gache, V., Blanchard-Gutton, N., Charrin, S., Tiret, L., Dumonceaux, J., Dupressoir, A., Heidmann, T. :
Genetic Evidence That Captured Retroviral Envelope syncytins Contribute to Myoblast Fusion and Muscle Sexual Dimorphism in Mice PLoS Genet, 2016 ; 12 (9) : e1006289
O'Grady, G. L., Best, H. A., Sztal, T. E., Schartner, V., Sanjuan-Vazquez, M., Donkervoort, S., Abath Neto, O., Sutton, R. B., Ilkovski, B., Romero, N. B., Stojkovic, T., Dastgir, J., Waddell, L. B., Boland, A., Hu, Y., Williams, C., Ruparelia, A. A., Maisonobe, T., Peduto, A. J., Reddel, S. W., Lek, M., Tukiainen, T., Cummings, B. B., Joshi, H., Nectoux, J., Brammah, S., Deleuze, J. F., Ing, V. O., Ramm, G., Ardicli, D., Nowak, K. J., Talim, B., Topaloglu, H., Laing, N. G., North, K. N., MacArthur, D. G., Friant, S., Clarke, N. F., Bryson-Richardson, R. J., Bonnemann, C. G., Laporte, J., Cooper, S. T. :
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization Am J Hum Genet, 2016 ; 99 (106) : 1086-1105