Malfatti, E., Monges, S., Lehtokari, V. L., Schaeffer, U., Abath Neto, O., Kiiski, K., Lubieniecki, F., Taratuto, A. L., Wallgren-Pettersson, C., Laporte, J., Romero, N. B. :
Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related « core-rod » congenital myopathy
Eur J Med Genet, 2015 ; 58 (10) : 556-561
Publications (1181)
Donkervoort, S., Hu, Y., Stojkovic, T., Voermans, N., Foley, A. R., Leach, M. E., Dastgir, J., Bolduc, V., Cullup, T., de Becdelievre, A., Yang, L., Su, H., Meilleur, K., Schindler, A. B., Kamsteeg, E. J., Richard, P., Butterfield, R., Winder, T. L., Crawford, T., Weiss, R. B., Muntoni, F., Allamand, V., Bonnemann, C. G. :
Mosaicism for Dominant Collagen VI Mutations as a Cause for Intra-Familial Phenotypic Variability Hum Mutat, 2015 ; 36 (1) : 48-56
Mosaicism for Dominant Collagen VI Mutations as a Cause for Intra-Familial Phenotypic Variability Hum Mutat, 2015 ; 36 (1) : 48-56
Ferrari, M., Louati, K., Miquel, A., Behin, A., Benveniste, O., Sellam, J. :
Quickly progressive amyotrophy of the thigh: An unusual cause of rapid chondrolysis of the knee Joint Bone Spine, 2015 ; 82 (3) : 203-205
Quickly progressive amyotrophy of the thigh: An unusual cause of rapid chondrolysis of the knee Joint Bone Spine, 2015 ; 82 (3) : 203-205
Simoneau, S., Thomzig, A., Ruchoux, M. M., Vignier, N., Daus, M. L., Poleggi, A., Lebon, P., Freire, S., Durand, V., Graziano, S., Galeno, R., Cardone, F., Comoy, E., Pocchiari, M., Beekes, M., Deslys, J. P., Fournier, J. G. :
Synthetic Scrapie Infectivity: Interaction between Recombinant PrP and Scrapie Brain-Derived RNA Virulence, 2015 ; 6 (2) : 132-144
Synthetic Scrapie Infectivity: Interaction between Recombinant PrP and Scrapie Brain-Derived RNA Virulence, 2015 ; 6 (2) : 132-144
Lacourpaille, L., Hug, F., Guevel, A., Pereon, Y., Magot, A., Hogrel, J. Y., Nordez, A. :
Non-invasive assessment of muscle stiffness in patients with duchenne muscular dystrophy Muscle Nerve, 2015 ; 51 (2) : 284-286
Non-invasive assessment of muscle stiffness in patients with duchenne muscular dystrophy Muscle Nerve, 2015 ; 51 (2) : 284-286
Mamrut, S., Avidan, N., Staun-Ram, E., Ginzburg, E., Truffault, F., Berrih-Aknin, S., Miller, A. :
Integrative analysis of methylome and transcriptome in human blood identifies extensive sex- and immune cell-specific differentially methylated regions Epigenetics, 2015 ; 10 (10) : 943-57
Integrative analysis of methylome and transcriptome in human blood identifies extensive sex- and immune cell-specific differentially methylated regions Epigenetics, 2015 ; 10 (10) : 943-57
Tiennot-Herment, L., Bonne, G. :
Vue exceptionnelle d’un nouveau site…. Med Sci (Paris), 2015 ; 31 Spec No 3 : 5-6
Vue exceptionnelle d’un nouveau site…. Med Sci (Paris), 2015 ; 31 Spec No 3 : 5-6
Bruneteau, G., Bauche, S., Gonzalez de Aguilar, J. L., Brochier, G., Mandjee, N., Tanguy, M. L., Hussain, G., Behin, A., Khiami, F., Sariali, E., Hell-Remy, C., Salachas, F., Pradat, P. F., Lacomblez, L., Nicole, S., Fontaine, B., Fardeau, M., Loeffler, J. P., Meininger, V., Fournier, E., Koenig, J., Hantai, D. :
Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients Ann Clin Transl Neurol, 2015 ; 2 (4) : 362-372
Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients Ann Clin Transl Neurol, 2015 ; 2 (4) : 362-372
Pekkala, S., Wiklund, P., Hulmi, J. J., Pollanen, E., Marjomaki, V., Munukka, E., Pierre, P., Mouly, V., Mero, A., Alen, M., Cheng, S. :
Cannabinoid receptor 1 and acute resistance exercise – In vivo and in vitro studies in human skeletal muscle Peptides, 2015 ; 67 : 55-63
Cannabinoid receptor 1 and acute resistance exercise – In vivo and in vitro studies in human skeletal muscle Peptides, 2015 ; 67 : 55-63
Rouillon, J., Poupiot, J., Zocevic, A., Amor, F., Leger, T., Garcia, C., Camadro, J. M., Wong, B., Pinilla, R., Cosette, J., Coenen-Stass, A. M., McClorey, G., Roberts, T. C., Wood, M. J., Servais, L., Udd, B., Voit, T., Richard, I., Svinartchouk, F. :
Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies Hum Mol Genet, 2015 ; 24 (17) : 4916-4932
Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies Hum Mol Genet, 2015 ; 24 (17) : 4916-4932
