van der Ploeg, A., Carlier, P. G., Carlier, R. Y., Kissel, J. T., Schoser, B., Wenninger, S., Pestronk, A., Barohn, R. J., Dimachkie, M. M., Goker-Alpan, O., Mozaffar, T., Pena, L. D., Simmons, Z., Straub, V., Guglieri, M., Young, P., Boentert, M., Baudin, P. Y., Wens, S., Shafi, R., Bjartmar, C., Thurberg, B. L. :
Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study
Mol Genet Metab, 2016 ; (SP) :
Publications (1181)
Holt, I., Duong, N. T., Zhang, Q., Lam le, T., Sewry, C. A., Mamchaoui, K., Shanahan, C. M., Morris, G. E. :
Specific localization of nesprin-1-alpha2, the short isoform of nesprin-1 with a KASH domain, in developing, fetal and regenerating muscle, using a new monoclonal antibody BMC Cell Biol, 2016 ; 17 (1) : 26
Specific localization of nesprin-1-alpha2, the short isoform of nesprin-1 with a KASH domain, in developing, fetal and regenerating muscle, using a new monoclonal antibody BMC Cell Biol, 2016 ; 17 (1) : 26
Polesskaya, A., Pinna, G., Sassi, Y., Vandamme, M., Bigot, A., Mouly, V., Morozova, N., Harel-Bellan, A., Degerny, C. :
Post-transcriptional modulation of interleukin 8 by CNOT6L regulates skeletal muscle differentiation Biochim Biophys Acta, 2016 ; 1863 (2) : 263-70
Post-transcriptional modulation of interleukin 8 by CNOT6L regulates skeletal muscle differentiation Biochim Biophys Acta, 2016 ; 1863 (2) : 263-70
Dragin, N., Bismuth, J., Cizeron-Clairac, G., Biferi, M. G., Berthault, C., Serraf, A., Nottin, R., Klatzmann, D., Cumano, A., Barkats, M., Le Panse, R., Berrih-Aknin, S. :
Estrogen-mediated downregulation of AIRE influences sexual dimorphism in autoimmune diseases J Clin Invest, 2016 ; 126 (4) : 1525-37
Estrogen-mediated downregulation of AIRE influences sexual dimorphism in autoimmune diseases J Clin Invest, 2016 ; 126 (4) : 1525-37
Le Moing, A. G., Seferian, A. M., Moraux, A., Annoussamy, M., Dorveaux, E., Gasnier, E., Hogrel, J. Y., Voit, T., Vissiere, D., Servais, L. :
A Movement Monitor Based on Magneto-Inertial Sensors for Non-Ambulant Patients with Duchenne Muscular Dystrophy: A Pilot Study in Controlled Environment PLoS ONE, 2016 ; 11 (6) : e0156696
A Movement Monitor Based on Magneto-Inertial Sensors for Non-Ambulant Patients with Duchenne Muscular Dystrophy: A Pilot Study in Controlled Environment PLoS ONE, 2016 ; 11 (6) : e0156696
Armbruster, N., Lattanzi, A., Jeavons, M., Van Wittenberghe, L., Gjata, B., Marais, T., Martin, S., Vignaud, A., Voit, T., Mavilio, F., Barkats, M., Buj-Bello, A. :
Efficacy and biodistribution analysis of intracerebroventricular administration of an optimized scAAV9-SMN1 vector in a mouse model of spinal muscular atrophy Mol Ther Methods Clin Dev, 2016 ; 3 (SP) : 16060
Efficacy and biodistribution analysis of intracerebroventricular administration of an optimized scAAV9-SMN1 vector in a mouse model of spinal muscular atrophy Mol Ther Methods Clin Dev, 2016 ; 3 (SP) : 16060
Fischer, M., Rikeit, P., Knaus, P., Coirault, C. :
YAP-Mediated Mechanotransduction in Skeletal Muscle Front Physiol, 2016 ; 7 : 41
YAP-Mediated Mechanotransduction in Skeletal Muscle Front Physiol, 2016 ; 7 : 41
Allenbach, Y., Leroux, G., Suarez-Calvet, X., Preusse, C., Gallardo, E., Hervier, B., Rigolet, A., Hie, M., Pehl, D., Limal, N., Hufnagl, P., Zerbe, N., Meyer, A., Aouizerate, J., Uzunhan, Y., Maisonobe, T., Goebel, H. H., Benveniste, O., Stenzel, W., French Myositis, Network :
Dermatomyositis With or Without Anti-Melanoma Differentiation-Associated Gene 5 Antibodies: Common Interferon Signature but Distinct NOS2 Expression Am J Pathol, 2016 ; 186 (3) : 691-700
Dermatomyositis With or Without Anti-Melanoma Differentiation-Associated Gene 5 Antibodies: Common Interferon Signature but Distinct NOS2 Expression Am J Pathol, 2016 ; 186 (3) : 691-700
Alves, S., Marais, T., Biferi, M. G., Furling, D., Marinello, M., El Hachimi, K., Cartier, N., Ruberg, M., Stevanin, G., Brice, A., Barkats, M., Sittler, A. :
Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins Mol Neurodegener, 2016 ; 11 (1) : 1-20
Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins Mol Neurodegener, 2016 ; 11 (1) : 1-20
Carlier, P. G., Marty, B., Scheidegger, O., Loureiro de Sousa, P., Baudin, P. Y., Snezhko, E., Vlodavets, D. :
Skeletal Muscle Quantitative Nuclear Magnetic Resonance Imaging and Spectroscopy as an Outcome Measure for Clinical Trials J Neuromuscul Dis, 2016 ; 3 (1) : 1-28
Skeletal Muscle Quantitative Nuclear Magnetic Resonance Imaging and Spectroscopy as an Outcome Measure for Clinical Trials J Neuromuscul Dis, 2016 ; 3 (1) : 1-28
