Ravenscroft, G., Miyatake, S., Lehtokari, V. L., Todd, E. J., Vornanen, P., Yau, K. S., Hayashi, Y. K., Miyake, N., Tsurusaki, Y., Doi, H., Saitsu, H., Osaka, H., Yamashita, S., Ohya, T., Sakamoto, Y., Koshimizu, E., Imamura, S., Yamashita, M., Ogata, K., Shiina, M., Bryson-Richardson, R. J., Vaz, R., Ceyhan, O., Brownstein, C. A., Swanson, L. C., Monnot, S., Romero, N. B., Amthor, H., Kresoje, N., Sivadorai, P., Kiraly-Borri, C., Haliloglu, G., Talim, B., Orhan, D., Kale, G., Charles, A. K., Fabian, V. A., Davis, M. R., Lammens, M., Sewry, C. A., Manzur, A., Muntoni, F., Clarke, N. F., North, K. N., Bertini, E., Nevo, Y., Willichowski, E., Silberg, I. E., Topaloglu, H., Beggs, A. H., Allcock, R. J., Nishino, I., Wallgren-Pettersson, C., Matsumoto, N., Laing, N. G. :
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy
Am J Hum Genet, 2013 ; 93 (1) : 6-18
Publications (1184)
Simon, D., Alberti, C., Alison, M., Lehenaff, L., Chevenne, D., Boizeau, P., Canal, A., Ollivier, G., Decostre, V., Jacqz-Aigrain, E., Carel, J. C., Czernichow, P., Hogrel, J. Y. :
Effects of Recombinant Human Growth Hormone for 1 Year on Body Composition and Muscle Strength in Children on Long-Term Steroid Therapy: Randomized Controlled, Delayed-Start Study J Clin Endocrinol Metab, 2013 ; 98 (7) : 2746-54
Effects of Recombinant Human Growth Hormone for 1 Year on Body Composition and Muscle Strength in Children on Long-Term Steroid Therapy: Randomized Controlled, Delayed-Start Study J Clin Endocrinol Metab, 2013 ; 98 (7) : 2746-54
Preisler, N., Pradel, A., Husu, E., Madsen, K. L., Becquemin, M. H., Mollet, A., Labrune, P., Petit, F., Hogrel, J. Y., Jardel, C., Maillot, F., Vissing, J., Laforet, P. :
Exercise intolerance in Glycogen Storage Disease Type III: Weakness or energy deficiency? Mol Genet Metab, 2013 ; 109 (1) : 14-20
Exercise intolerance in Glycogen Storage Disease Type III: Weakness or energy deficiency? Mol Genet Metab, 2013 ; 109 (1) : 14-20
Duguez, S., Duddy, W., Johnston, H., Laine, J., Le Bihan, M. C., Brown, K. J., Bigot, A., Hathout, Y., Butler-Browne, G., Partridge, T. :
Dystrophin deficiency leads to disturbance of LAMP1-vesicle-associated protein secretion Cell Mol Life Sci, 2013 ; 70 (12) : 2159-2174
Dystrophin deficiency leads to disturbance of LAMP1-vesicle-associated protein secretion Cell Mol Life Sci, 2013 ; 70 (12) : 2159-2174
Lim, J. J., Ngah, W. Z., Mouly, V., Abdul Karim, N. :
Reversal of myoblast aging by tocotrienol rich fraction posttreatment Oxid Med Cell Longev, 2013 ; 2013 : 978101
Reversal of myoblast aging by tocotrienol rich fraction posttreatment Oxid Med Cell Longev, 2013 ; 2013 : 978101
Bauche, S., Boerio, D., Davoine, C. S., Bernard, V., Stum, M., Bureau, C., Fardeau, M., Romero, N. B., Fontaine, B., Koenig, J., Hantai, D., Gueguen, A., Fournier, E., Eymard, B., Nicole, S. :
Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome Neuromuscul Disord, 2013 ; 23 (12) : 998-1009
Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome Neuromuscul Disord, 2013 ; 23 (12) : 998-1009
Bohm, J., Vasli, N., Malfatti, E., Le Gras, S., Feger, C., Jost, B., Monnier, N., Brocard, J., Karasoy, H., Gerard, M., Walter, M. C., Reilich, P., Biancalana, V., Kretz, C., Messaddeq, N., Marty, I., Lunardi, J., Romero, N. B., Laporte, J. :
An integrated diagnosis strategy for congenital myopathies PLoS ONE, 2013 ; 8 (6) : e67527
An integrated diagnosis strategy for congenital myopathies PLoS ONE, 2013 ; 8 (6) : e67527
Calhabeu, F., Hayashi, S., Morgan, J. E., Relaix, F., Zammit, P. S. :
Alveolar rhabdomyosarcoma-associated proteins PAX3/FOXO1A and PAX7/FOXO1A suppress the transcriptional activity of MyoD-target genes in muscle stem cells Oncogene, 2013 ; 32 (5) : 651-62
Alveolar rhabdomyosarcoma-associated proteins PAX3/FOXO1A and PAX7/FOXO1A suppress the transcriptional activity of MyoD-target genes in muscle stem cells Oncogene, 2013 ; 32 (5) : 651-62
Pilat, U., Dechat, T., Bertrand, A. T., Woisetschlager, N., Gotic, I., Spilka, R., Biadasiewicz, K., Bonne, G., Foisner, R. :
Muscle dystrophy-causing DeltaK32 lamin A/C mutant does not impair functions of nucleoplasmic LAP2alpha – lamin A/C complexes in mice J Cell Sci, 2013 ; 126 (Pt 8) : 1753-62
Muscle dystrophy-causing DeltaK32 lamin A/C mutant does not impair functions of nucleoplasmic LAP2alpha – lamin A/C complexes in mice J Cell Sci, 2013 ; 126 (Pt 8) : 1753-62
Justo, D., Charles, P., Daunizeau, J., Delmaire, C., Gargiulo, M., Hahn-Barma, V., Naccache, L., Durr, A. :
Is non-recognition of choreic movements in Huntington disease always pathological ? Neuropsychologia, 2013 ; 51 (4) : 748-59
Is non-recognition of choreic movements in Huntington disease always pathological ? Neuropsychologia, 2013 ; 51 (4) : 748-59
