Scalco, R. S., Snoeck, M., Quinlivan, R., Treves, S., Laforet, P., Jungbluth, H., Voermans, N. C. :
Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?
BMJ Open Sport Exerc Med, 2016 ; 2 (1) : e000151
Publications (1184)
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
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization Am J Hum Genet, 2016 ; 99 (106) : 1086-1105
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
Cellular Therapies for Muscular Dystrophies: Frustrations and Clinical Successes Hum Gene Ther, 2016 ; 27 (2) : 117-26
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
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
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
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
Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy Nat Commun, 2016 ; 7 : 11067
Moyon, Q., Benveniste, O. :
Intérêt de la rééducation fonctionnelle au cours des myopathies inflammatoires. Rev Med Interne, 2016 ; (SP) :
Intérêt 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
beta-Catenin Activation in Muscle Progenitor Cells Regulates Tissue Repair Cell Rep, 2016 ; 15 (6) : 1277-90
Willkomm, L., Heredia, R., Hoffmann, K., Wang, H., Voit, T., Hoffman, E. P., Cirak, S. :
Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia J Hum Genet, 2016 ; :
Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia J Hum Genet, 2016 ; :
