Michot, C., Hubert, L., Romero, N. B., Gouda, A., Mamoune, A., Mathew, S., Kirk, E., Viollet, L., Rahman, S., Bekri, S., Peters, H., McGill, J., Glamuzina, E., Farrar, M., von der Hagen, M., Alexander, I. E., Kirmse, B., Barth, M., Laforet, P., Benlian, P., Munnich, A., Jeanpierre, M., Elpeleg, O., Pines, O., Delahodde, A., de Keyzer, Y., de Lonlay, P. :
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia
J Inherit Metab Dis, 2012 ; 35 (6) : 1119-28
Publications (1184)
Vulin, A., Barthelemy, I., Goyenvalle, A., Thibaud, J. L., Beley, C., Griffith, G., Benchaouir, R., le Hir, M., Unterfinger, Y., Lorain, S., Dreyfus, P., Voit, T., Carlier, P. G., Blot, S., Garcia, L. :
Muscle Function Recovery in Golden Retriever Muscular Dystrophy After AAV1-U7 Exon Skipping Mol Ther, 2012 ; 20 (11) : 2120-33
Muscle Function Recovery in Golden Retriever Muscular Dystrophy After AAV1-U7 Exon Skipping Mol Ther, 2012 ; 20 (11) : 2120-33
Durr, A., Gargiulo, M., Feingold, J. :
La phase présymptomatique de la maladie de Huntington , 2012 ; 168 (11) : 806-808
La phase présymptomatique de la maladie de Huntington , 2012 ; 168 (11) : 806-808
Amthor, H., Hoogaars, W. M. :
Interference with Myostatin/ActRIIB Signaling as a Therapeutic Strategy for Duchenne Muscular Dystrophy Curr Gene Ther, 2012 ; 12 (3) : 245-259
Interference with Myostatin/ActRIIB Signaling as a Therapeutic Strategy for Duchenne Muscular Dystrophy Curr Gene Ther, 2012 ; 12 (3) : 245-259
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
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
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
