Publications (1181)

Herlin, B., Laforet, P., Labrune, P., Fournier, E., Stojkovic, T. :
Peripheral neuropathy in glycogen storage disease type III: Fact or myth? Muscle Nerve, 2016 ; 53 (2) : 310-2
Hervier, B., Perez, M., Allenbach, Y., Devilliers, H., Cohen, F., Uzunhan, Y., Ouakrim, H., Dorgham, K., Meritet, J. F., Longchampt, E., Stenzel, W., Cremer, I., Benveniste, O., Vieillard, V. :
Involvement of NK Cells and NKp30 Pathway in Antisynthetase Syndrome J Immunol, 2016 ; 197 (5) : 1621-30
Servian-Morilla, E., Takeuchi, H., Lee, T. V., Clarimon, J., Mavillard, F., Area-Gomez, E., Rivas, E., Nieto-Gonzalez, J. L., Rivero, M. C., Cabrera-Serrano, M., Gomez-Sanchez, L., Martinez-Lopez, J. A., Estrada, B., Marquez, C., Morgado, Y., Suarez-Calvet, X., Pita, G., Bigot, A., Gallardo, E., Fernandez-Chacon, R., Hirano, M., Haltiwanger, R. S., Jafar-Nejad, H., Paradas, C. :
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss EMBO Mol Med, 2016 ; 8 (11) : 1289-1309
Akman, H. O., Aykit, Y., Amuk, O. C., Malfatti, E., Romero, N. B., Maioli, M. A., Piras, R., DiMauro, S., Marrosu, G. :
Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1 Neuromuscul Disord, 2016 ; 26 (1) : 16-20
Freyermuth, F., Rau, F., Kokunai, Y., Linke, T., Sellier, C., Nakamori, M., Kino, Y., Arandel, L., Jollet, A., Thibault, C., Philipps, M., Vicaire, S., Jost, B., Udd, B., Day, J. W., Duboc, D., Wahbi, K., Matsumura, T., Fujimura, H., Mochizuki, H., Deryckere, F., Kimura, T., Nukina, N., Ishiura, S., Lacroix, V., Campan-Fournier, A., Navratil, V., Chautard, E., Auboeuf, D., Horie, M., Imoto, K., Lee, K. Y., Swanson, M. S., Lopez de Munain, A., Inada, S., Itoh, H., Nakazawa, K., Ashihara, T., Wang, E., Zimmer, T., Furling, D., Takahashi, M. P., Charlet-Berguerand, N. :
Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy Nat Commun, 2016 ; 7 : 11067
Moyon, Q., Benveniste, O. :
IntĂ©rĂȘt de la rééducation fonctionnelle au cours des myopathies inflammatoires. Rev Med Interne, 2016 ; (SP) :
Rudolf, A., Schirwis, E., Giordani, L., Parisi, A., Lepper, C., Taketo, M. M., Le Grand, F. :
beta-Catenin Activation in Muscle Progenitor Cells Regulates Tissue Repair Cell Rep, 2016 ; 15 (6) : 1277-90
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
Guarani, V., Jardel, C., Chretien, D., Lombes, A., Benit, P., Labasse, C., Lacene, E., Bourillon, A., Imbard, A., Benoist, J. F., Dorboz, I., Gilleron, M., Goetzman, E. S., Gaignard, P., Slama, A., Elmaleh-Berges, M., Romero, N. B., Rustin, P., Ogier de Baulny, H., Paulo, J. A., Harper, J. W., Schiff, M. :
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease Elife, 2016 ; 5 : e17163
Negroni, E., Bigot, A., Butler-Browne, G. S., Trollet, C., Mouly, V. :
Cellular Therapies for Muscular Dystrophies: Frustrations and Clinical Successes Hum Gene Ther, 2016 ; 27 (2) : 117-26