Publications (1181)

Stantzou, A., Ueberschlag-Pitiot, V., Thomasson, R., Furling, D., Bonnieu, A., Amthor, H., Ferry, A. :
Effect of constitutive inactivation of the myostatin gene on the gain in muscle strength during postnatal growth in two murine models Muscle Nerve, 2017 ; 55 (2) : 254-261
Rzuczek, S. G., Colgan, L. A., Nakai, Y., Cameron, M. D., Furling, D., Yasuda, R., Disney, M. D. :
Precise small-molecule recognition of a toxic CUG RNA repeat expansion Nat Chem Biol, 2017 ; 13 (2) : 188-193
Wojtal, D., Kemaladewi, D. U., Malam, Z., Abdullah, S., Wong, T. W., Hyatt, E., Baghestani, Z., Pereira, S., Stavropoulos, J., Mouly, V., Mamchaoui, K., Muntoni, F., Voit, T., Gonorazky, H. D., Dowling, J. J., Wilson, M. D., Mendoza-Londono, R., Ivakine, E. A., Cohn, R. D. :
Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders Am J Hum Genet, 2016 ; 98 (1) : 90-101
Davignon, L., Chauveau, C., Julien, C., Dill, C., Duband-Goulet, I., Cabet, E., Buendia, B., Lilienbaum, A., Rendu, J., Minot, M. C., Guichet, A., Allamand, V., Vadrot, N., Faure, J., Odent, S., Lazaro, L., Leroy, J. P., Marcorelles, P., Dubourg, O., Ferreiro, A. :
The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease Hum Mol Genet, 2016 ; 25 (8) : 1559-73
Attarian, S., Vallat, J. M., Magy, L., Funalot, B., Gonnaud, P. M., Lacour, A., Pereon, Y., Dubourg, O., Pouget, J., Micallef, J., Franques, J., Lefebvre, M. N., Ghorab, K., Al-Moussawi, M., Tiffreau, V., Preudhomme, M., Magot, A., Leclair-Visonneau, L., Stojkovic, T., Bossi, L., Lehert, P., Gilbert, W., Bertrand, V., Mandel, J., Milet, A., Hajj, R., Boudiaf, L., Scart-Gres, C., Nabirotchkin, S., Guedj, M., Chumakov, I., Cohen, D. :
Erratum to: An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A Orphanet J Rare Dis, 2016 ; 11 (1) : 92
Laforet, P. :
What have we learned about glycogenosis in recent years? Rev Neurol (Paris), 2016 ; (SP) :
Galant, D., Gaborit, B., Desgrouas, C., Abdesselam, I., Bernard, M., Levy, N., Merono, F., Coirault, C., Roll, P., Lagarde, A., Bonello-Palot, N., Bourgeois, P., Dutour, A., Badens, C. :
A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy Cells, 2016 ; 5 (2) : 21
Marty, B., Baudin, P. Y., Reyngoudt, H., Azzabou, N., Araujo, E. C., Carlier, P. G., de Sousa, P. L. :
Simultaneous muscle water T and fat fraction mapping using transverse relaxometry with stimulated echo compensation NMR Biomed, 2016 ; 29 (4) : 431-43
Benveniste, O., Stenzel, W., Allenbach, Y. :
Advances in serological diagnostics of inflammatory myopathies Curr Opin Neurol, 2016 ; 29 (5) : 662-73
Marey, I., Ben Yaou, R., Deburgrave, N., Vasson, A., Nectoux, J., Leturcq, F., Eymard, B., Laforet, P., Behin, A., Stojkovic, T., Mayer, M., Tiffreau, V., Desguerre, I., Boyer, F. C., Nadaj-Pakleza, A., Ferrer, X., Wahbi, K., Becane, H. M., Claustres, M., Chelly, J., Cossee, M. :
Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms J Neuromuscul Dis, 2016 ; 3 (2) : 227-245