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
Publications (1181)
Seferian, A. M., Malfatti, E., Bosson, C., Pelletier, L., Taytard, J., Forin, V., Gidaro, T., Gargaun, E., Carlier, P., Faure, J., Romero, N. B., Rendu, J., Servais, L. :
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8) Neuromuscul Disord, 2016 ; 26 (10) : 712-716
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8) Neuromuscul Disord, 2016 ; 26 (10) : 712-716
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
Vilmont, V., Cadot, B., Ouanounou, G., Gomes, E. R. :
A system for studying mechanisms of neuromuscular junction development and maintenance Development, 2016 ; 143 (13) : 2464-77
A system for studying mechanisms of neuromuscular junction development and maintenance Development, 2016 ; 143 (13) : 2464-77
Gargaun, E., Seferian, A. M., Cardas, R., Le Moing, A. G., Delanoe, C., Nectoux, J., Nelson, I., Bonne, G., Bihoreau, M. T., Deleuze, J. F., Boland, A., Masson, C., Servais, L., Gidaro, T. :
EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome J Neurol, 2016 ; 263 (7) : 1456-8
EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome J Neurol, 2016 ; 263 (7) : 1456-8
Bradburn, S., McPhee, J. S., Bagley, L., Sipila, S., Stenroth, L., Narici, M. V., Paasuke, M., Gapeyeva, H., Osborne, G., Sassano, L., Meskers, C. G., Maier, A. B., Hogrel, J. Y., Barnouin, Y., Butler-Browne, G., Murgatroyd, C. :
Association between osteocalcin and cognitive performance in healthy older adults Age Ageing, 2016 ; 45 (6) : 844-849
Association between osteocalcin and cognitive performance in healthy older adults Age Ageing, 2016 ; 45 (6) : 844-849
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
