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 (1184)
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
Wojtal, D., Kemaladewi, D. U., Malam, Z., Abdullah, S., Wong, T. W., Hyatt, E., Baghestani, Z., Pereira, S., Stavropoulos, J., Mouly, V., Mamchaoui, K., Muntoni, F., Voit, T., Gonorazky, H. D., Dowling, J. J., Wilson, M. D., Mendoza-Londono, R., Ivakine, E. A., Cohn, R. D. :
Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders Am J Hum Genet, 2016 ; 98 (1) : 90-101
Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders Am J Hum Genet, 2016 ; 98 (1) : 90-101
Davignon, L., Chauveau, C., Julien, C., Dill, C., Duband-Goulet, I., Cabet, E., Buendia, B., Lilienbaum, A., Rendu, J., Minot, M. C., Guichet, A., Allamand, V., Vadrot, N., Faure, J., Odent, S., Lazaro, L., Leroy, J. P., Marcorelles, P., Dubourg, O., Ferreiro, A. :
The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease Hum Mol Genet, 2016 ; 25 (8) : 1559-73
The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease Hum Mol Genet, 2016 ; 25 (8) : 1559-73
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
Bauche, S., O'Regan, S., Azuma, Y., Laffargue, F., McMacken, G., Sternberg, D., Brochier, G., Buon, C., Bouzidi, N., Topf, A., Lacene, E., Remerand, G., Beaufrere, A. M., Pebrel-Richard, C., Thevenon, J., El Chehadeh-Djebbar, S., Faivre, L., Duffourd, Y., Ricci, F., Mongini, T., Fiorillo, C., Astrea, G., Burloiu, C. M., Butoianu, N., Sandu, C., Servais, L., Bonne, G., Nelson, I., Desguerre, I., Nougues, M. C., Boeuf, B., Romero, N., Laporte, J., Boland, A., Lechner, D., Deleuze, J. F., Fontaine, B., Strochlic, L., Lochmuller, H., Eymard, B., Mayer, M., Nicole, S. :
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea Am J Hum Genet, 2016 ; 99 (3) : 753-61
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea Am J Hum Genet, 2016 ; 99 (3) : 753-61
Marty, B., Baudin, P. Y., Reyngoudt, H., Azzabou, N., Araujo, E. C., Carlier, P. G., de Sousa, P. L. :
Simultaneous muscle water T and fat fraction mapping using transverse relaxometry with stimulated echo compensation NMR Biomed, 2016 ; 29 (4) : 431-43
Simultaneous muscle water T and fat fraction mapping using transverse relaxometry with stimulated echo compensation NMR Biomed, 2016 ; 29 (4) : 431-43
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
