Didier, N., Hourde, C., Amthor, H., Marazzi, G., Sassoon, D. :
Loss of a single allele for Ku80 leads to progenitor dysfunction and accelerated aging in skeletal muscle
EMBO Mol Med, 2012 ; 4 (9) : 910-23
Publications (1181)
Huguet, A, Medja, F, Nicole, A, Vignaud, A, Guiraud-Dogan, C, Ferry, A, Decostre, V, Hogrel, J Y, Metzger, F, Hoeflich, A, Baraibar, M, Gomes-Pereira, M, Puymirat, J, Bassez, G, Furling, D, Munnich, A, Gourdon, G :
Molecular, physiological and motor performance defects in DMSXL mice carrying >1000 CTG repeats from the human DM1 locus PLoS Genet, 2012 ; 8 (11) : e1003043
Molecular, physiological and motor performance defects in DMSXL mice carrying >1000 CTG repeats from the human DM1 locus PLoS Genet, 2012 ; 8 (11) : e1003043
Preisler, N., Orngreen, M. C., Echaniz-Laguna, A., Laforet, P., Lonsdorfer-Wolf, E., Doutreleau, S., Geny, B., Akman, H. O., Dimauro, S., Vissing, J. :
Muscle phosphorylase kinase deficiency: A neutral metabolic variant or a disease? Neurology, 2012 ; 78 (4) : 265-8
Muscle phosphorylase kinase deficiency: A neutral metabolic variant or a disease? Neurology, 2012 ; 78 (4) : 265-8
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
Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C J Peripher Nerv Syst, 2012 ; 17 (1) : 112-122
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
