Jimenez-Moreno, A. C., Newman, J., Charman, S. J., Catt, M., Trenell, M. I., Gorman, G. S., Hogrel, J. Y., Lochmuller, H. :
Measuring Habitual Physical Activity in Neuromuscular Disorders: A Systematic Review
J Neuromuscul Dis, 2017 ; 4 (1) : 25-52
Publications (1184)
Rothwell, S., Cooper, R. G., Lundberg, I. E., Gregersen, P. K., Hanna, M. G., Machado, P. M., Herbert, M. K., Pruijn, G. J., Lilleker, J. B., Roberts, M., Bowes, J., Seldin, M. F., Vencovsky, J., Danko, K., Limaye, V., Selva-O'Callaghan, A., Platt, H., Molberg, O., Benveniste, O., Radstake, T. R., Doria, A., De Bleecker, J., De Paepe, B., Gieger, C., Meitinger, T., Winkelmann, J., Amos, C. I., Ollier, W. E., Padyukov, L., Lee, A. T., Lamb, J. A., Chinoy, H. :
Immune-array Analysis in Sporadic Inclusion Body Myositis Reveals HLA-DRB1 Amino Acid Heterogeneity across the Myositis Spectrum Arthritis Rheumatol, 2017 ; 69 (5) : 1090-1099
Immune-array Analysis in Sporadic Inclusion Body Myositis Reveals HLA-DRB1 Amino Acid Heterogeneity across the Myositis Spectrum Arthritis Rheumatol, 2017 ; 69 (5) : 1090-1099
Gomez-Andres, D., Dabaj, I., Mompoint, D., Hankiewicz, K., Azzi, V., Ioos, C., Romero, N. B., Ben Yaou, R., Bergounioux, J., Bonne, G., Richard, P., Estournet, B., Yves-Carlier, R., Quijano-Roy, S. :
Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy Muscle Nerve, 2016 ; 54 (2) : 192-202
Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy Muscle Nerve, 2016 ; 54 (2) : 192-202
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) :
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) :
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
