Yger, M., Stojkovic, T., Tardieu, S., Maisonobe, T., Brice, A., Echaniz-Laguna, A., Alembik, Y., Girard, S., Cazeneuve, C., Leguern, E., Dubourg, O. :
Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C
J Peripher Nerv Syst, 2012 ; 17 (1) : 112-122
Publications (1184)
Benchaouir, R., Goyenvalle, A. :
Splicing Modulation Mediated by Small Nuclear RNAs as Therapeutic Approaches for Muscular Dystrophies Curr Gene Ther, 2012 ; 12 (3) : 179-191
Splicing Modulation Mediated by Small Nuclear RNAs as Therapeutic Approaches for Muscular Dystrophies Curr Gene Ther, 2012 ; 12 (3) : 179-191
Friedrich, F. W., Carrier, L. :
Genetics of hypertrophic and dilated cardiomyopathy Curr Pharm Biotechnol, 2012 ; 13 (13) : 2467-76
Genetics of hypertrophic and dilated cardiomyopathy Curr Pharm Biotechnol, 2012 ; 13 (13) : 2467-76
Li, K., Hogrel, J. Y., Duchene, J., Hewson, D. J. :
Analysis of fatigue and tremor during sustained maximal grip contractions using Hilbert-Huang Transformation Med Eng Phys, 2012 ; 34 (7) : 832-840
Analysis of fatigue and tremor during sustained maximal grip contractions using Hilbert-Huang Transformation Med Eng Phys, 2012 ; 34 (7) : 832-840
Shevchuk, A. I., Novak, P., Taylor, M., Diakonov, I. A., Ziyadeh-Isleem, A., Bitoun, M., Guicheney, P., Lab, M. J., Gorelik, J., Merrifield, C. J., Klenerman, D., Korchev, Y. E. :
An alternative mechanism of clathrin-coated pit closure revealed by ion conductance microscopy J Cell Biol, 2012 ; 197 (4) : 499-508
An alternative mechanism of clathrin-coated pit closure revealed by ion conductance microscopy J Cell Biol, 2012 ; 197 (4) : 499-508
Bohm, J., Leshinsky-Silver, E., Vassilopoulos, S., Le Gras, S., Lerman-Sagie, T., Ginzberg, M., Jost, B., Lev, D., Laporte, J. :
Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation Acta Neuropathol, 2012 ; 124 (4) : 575-581
Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation Acta Neuropathol, 2012 ; 124 (4) : 575-581
Guergueltcheva, V., Muller, J. S., Dusl, M., Senderek, J., Oldfors, A., Lindbergh, C., Maxwell, S., Colomer, J., Mallebrera, C. J., Nascimento, A., Vilchez, J. J., Muelas, N., Kirschner, J., Nafissi, S., Kariminejad, A., Nilipour, Y., Bozorgmehr, B., Najmabadi, H., Rodolico, C., Sieb, J. P., Schlotter, B., Schoser, B., Herrmann, R., Voit, T., Steinlein, O. K., Najafi, A., Urtizberea, A., Soler, D. M., Muntoni, F., Hanna, M. G., Chaouch, A., Straub, V., Bushby, K., Palace, J., Beeson, D., Abicht, A., Lochmuller, H. :
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations J Neurol, 2012 ; 259 (5) : 838-850
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations J Neurol, 2012 ; 259 (5) : 838-850
Mochel, F., N'Guyen T, M., Deelchand, D., Rinaldi, D., Valabregue, R., Wary, C., Carlier, P. G., Durr, A., Henry, P. G. :
Abnormal response to cortical activation in early stages of Huntington disease Mov Disord, 2012 ; 27 (7) : 907-910
Abnormal response to cortical activation in early stages of Huntington disease Mov Disord, 2012 ; 27 (7) : 907-910
Attarian, S., Salort-Campana, E., Nguyen, K., Behin, A., Urtizberea, J. A. :
Recommendations for the management of facioscapulohumeral muscular dystrophy in 2011 Rev Neurol (Paris), 2012 ; 168 (12) : 910-918
Recommendations for the management of facioscapulohumeral muscular dystrophy in 2011 Rev Neurol (Paris), 2012 ; 168 (12) : 910-918
Dimitri, D., Eymard, B. :
Myopathies inflammatoires, myopathies necrosantes auto-immunes, myopathies genetiques de l’adulte: frontieres diagnostiques. Rev Med Interne, 2012 ; 33 (3) : 134-142
Myopathies inflammatoires, myopathies necrosantes auto-immunes, myopathies genetiques de l’adulte: frontieres diagnostiques. Rev Med Interne, 2012 ; 33 (3) : 134-142
