Baumann, M., Giunta, C., Krabichler, B., Ruschendorf, F., Zoppi, N., Colombi, M., Bittner, R. E., Quijano-Roy, S., Muntoni, F., Cirak, S., Schreiber, G., Zou, Y., Hu, Y., Romero, N. B., Carlier, R. Y., Amberger, A., Deutschmann, A., Straub, V., Rohrbach, M., Steinmann, B., Rostasy, K., Karall, D., Bonnemann, C. G., Zschocke, J., Fauth, C. :
Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss
Am J Hum Genet, 2012 ; 90 (2) : 201-216
Publications (1184)
Durieux, A. C., Vassilopoulos, S., Laine, J., Fraysse, B., Brinas, L., Prudhon, B., Castells, J., Freyssenet, D., Bonne, G., Guicheney, P., Bitoun, M. :
A centronuclear myopathy-dynamin 2 mutation impairs autophagy in mice Traffic, 2012 ; 13 (6) : 869-879
A centronuclear myopathy-dynamin 2 mutation impairs autophagy in mice Traffic, 2012 ; 13 (6) : 869-879
Laurent, F. X., Sureau, A., Klein, A. F., Trouslard, F., Gasnier, E., Furling, D., Marie, J. :
New function for the RNA helicase p68/DDX5 as a modifier of MBNL1 activity on expanded CUG repeats Nucleic Acids Res, 2012 ; 40 (7) : 3159-3171
New function for the RNA helicase p68/DDX5 as a modifier of MBNL1 activity on expanded CUG repeats Nucleic Acids Res, 2012 ; 40 (7) : 3159-3171
Schlossarek, S, Englmann, D, Sultan, K, Sauer, M, Eschenhagen, T, Carrier, L :
Defective proteolytic systems in Mybpc3-targeted mice with cardiac hypertrophy Basic Res Cardiol, 2012 ; 107 (1) : 1-13
Defective proteolytic systems in Mybpc3-targeted mice with cardiac hypertrophy Basic Res Cardiol, 2012 ; 107 (1) : 1-13
Bish, L. T., Sleeper, M. M., Forbes, S. C., Wang, B., Reynolds, C., Singletary, G. E., Trafny, D., Morine, K. J., Sanmiguel, J., Cecchini, S., Virag, T., Vulin, A., Beley, C., Bogan, J., Wilson, J. M., Vandenborne, K., Kornegay, J. N., Walter, G. A., Kotin, R. M., Garcia, L., Sweeney, H. L. :
Long-term Restoration of Cardiac Dystrophin Expression in Golden Retriever Muscular Dystrophy Following rAAV6-mediated Exon Skipping Mol Ther, 2012 ; 20 (3) : 580-589
Long-term Restoration of Cardiac Dystrophin Expression in Golden Retriever Muscular Dystrophy Following rAAV6-mediated Exon Skipping Mol Ther, 2012 ; 20 (3) : 580-589
Goyenvalle, A., Babbs, A., Wright, J., Wilkins, V., Powell, D., Garcia, L., Davies, K. E. :
Rescue of severely affected dystrophin/utrophin-deficient mice through scAAV-U7snRNA-mediated exon skipping Hum Mol Genet, 2012 ; 21 (11) : 2559-2571
Rescue of severely affected dystrophin/utrophin-deficient mice through scAAV-U7snRNA-mediated exon skipping Hum Mol Genet, 2012 ; 21 (11) : 2559-2571
Metzger, T, Gache, V, Xu, M, Cadot, B, Folker, E S., Richardson, B E., Gomes, E R., Baylies, M K. :
MAP and kinesin-dependent nuclear positioning is required for skeletal muscle function Nature, 2012 ; 484 (7392) : 120-124
MAP and kinesin-dependent nuclear positioning is required for skeletal muscle function Nature, 2012 ; 484 (7392) : 120-124
Viala, K., Stojkovic, T., Doncker, A. V., Maisonobe, T., Lenglet, T., Bruneteau, G., Musset, L., Neil, J., Leger, J. M., Leblond, V. :
Heterogeneous spectrum of neuropathies in Waldenstrom’s macroglobulinemia: a diagnostic strategy to optimize their management J Peripher Nerv Syst, 2012 ; 17 (1) : 90-101
Heterogeneous spectrum of neuropathies in Waldenstrom’s macroglobulinemia: a diagnostic strategy to optimize their management J Peripher Nerv Syst, 2012 ; 17 (1) : 90-101
Alameddine, H. S. :
Matrix metalloproteinases in skeletal muscles: Friends or foes? Neurobiol Dis, 2012 ; 48 (3) : 508-518
Matrix metalloproteinases in skeletal muscles: Friends or foes? Neurobiol Dis, 2012 ; 48 (3) : 508-518
Hogrel, J. Y. :
Introduction à l’analyse de la propagation des potentiels d’action dans les pathologies neuromusculaires Cahier de Myologie, 2012 ; 6 : 10-14
Introduction à l’analyse de la propagation des potentiels d’action dans les pathologies neuromusculaires Cahier de Myologie, 2012 ; 6 : 10-14
