Lornage, X., Malfatti, E., Cheraud, C., Schneider, R., Biancalana, V., Cuisset, J. M., Garibaldi, M., Eymard, B., Fardeau, M., Boland, A., Deleuze, J. F., Thompson, J., Carlier, R. Y., Bohm, J., Romero, N. B., Laporte, J. :
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods
Ann Neurol, 2017 ; 81 (3) : 467-473
Publications (1184)
Mercier, S., Lornage, X., Malfatti, E., Marcorelles, P., Letournel, F., Boscher, C., Caillaux, G., Magot, A., Bohm, J., Boland, A., Deleuze, J. F., Romero, N., Pereon, Y., Laporte, J. :
Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A Neurology, 2017 ; 88 (4) : 414-416
Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A Neurology, 2017 ; 88 (4) : 414-416
Beyer, S., Pontis, J., Schirwis, E., Battisti, V., Rudolf, A., Le Grand, F., Ait-Si-Ali, S. :
Canonical Wnt signalling regulates nuclear export of Setdb1 during skeletal muscle terminal differentiation. Erratum: Canonical Wnt signalling regulates nuclear export of Setdb1 during skeletal muscle terminal differentiation. [Cell Discov. 2016] Cell Discov, 2016 ; 2 : 16037
Canonical Wnt signalling regulates nuclear export of Setdb1 during skeletal muscle terminal differentiation. Erratum: Canonical Wnt signalling regulates nuclear export of Setdb1 during skeletal muscle terminal differentiation. [Cell Discov. 2016] Cell Discov, 2016 ; 2 : 16037
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
Fischer, M., Rikeit, P., Knaus, P., Coirault, C. :
YAP-Mediated Mechanotransduction in Skeletal Muscle Front Physiol, 2016 ; 7 : 41
YAP-Mediated Mechanotransduction in Skeletal Muscle Front Physiol, 2016 ; 7 : 41
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) :
Malfatti, E., Romero, N. B. :
Nemaline myopathies: State of the art Rev Neurol (Paris), 2016 ; 172 (10) : 614-619
Nemaline myopathies: State of the art Rev Neurol (Paris), 2016 ; 172 (10) : 614-619
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 ; :
