Mariot, V, Roche, S, Hourdé, C, Portilho, D, Sacconi, S, Puppo, P, Duguez, S, Rameau, P, Caruso, N, Delezoide, A L, Desnuelle, C, Bessières, B, Collardeau, S, Feasson, L, Maisonobe, T, Magdinier, F, Helmbacher, F, Butler-Browne, G, Mouly, V, Dumonceaux, J :
Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy.
Ann Neurol, 2015 ; 78 (3) : 387-400
Publications (1184)
Todd, E. J., Yau, K. S., Ong, R., Slee, J., McGillivray, G., Barnett, C. P., Haliloglu, G., Talim, B., Akcoren, Z., Kariminejad, A., Cairns, A., Clarke, N. F., Freckmann, M. L., Romero, N. B., Williams, D., Sewry, C. A., Colley, A., Ryan, M. M., Kiraly-Borri, C., Sivadorai, P., Allcock, R. J., Beeson, D., Maxwell, S., Davis, M. R., Laing, N. G., Ravenscroft, G. :
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth Orphanet J Rare Dis, 2015 ; 10 (1) : 148
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth Orphanet J Rare Dis, 2015 ; 10 (1) : 148
Junge, N., Mingozzi, F., Ott, M., Baumann, U. :
Adeno-associated Virus Vector Based Gene Therapy for Monogenetic Metabolic Diseases of the Liver J Pediatr Gastroenterol Nutr, 2015 ; 60 (4) : 433-440
Adeno-associated Virus Vector Based Gene Therapy for Monogenetic Metabolic Diseases of the Liver J Pediatr Gastroenterol Nutr, 2015 ; 60 (4) : 433-440
Zocevic, A., Rouillon, J., Wong, B., Servais, L., Voit, T., Svinartchouk, F. :
Evaluation of the serum matrix metalloproteinase-9 as a biomarker for monitoring disease progression in Duchenne muscular dystrophy Neuromuscul Disord, 2015 ; 25 (5) : 444-446
Evaluation of the serum matrix metalloproteinase-9 as a biomarker for monitoring disease progression in Duchenne muscular dystrophy Neuromuscul Disord, 2015 ; 25 (5) : 444-446
Carpentier, M., Lorain, S., Chappert, P., Lalfer, M., Hardet, R., Urbain, D., Peccate, C., Adriouch, S., Garcia, L., Davoust, J., Gross, D. A. :
Intrinsic transgene immunogenicity gears CD8(+) T-cell priming after rAAV-mediated muscle gene transfer Mol Ther, 2015 ; 23 (4) : 697-706
Intrinsic transgene immunogenicity gears CD8(+) T-cell priming after rAAV-mediated muscle gene transfer Mol Ther, 2015 ; 23 (4) : 697-706
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 MRI fingerprint and comparison with SEPN1-myopathy Muscle Nerve, 2015 ; :
Pediatric laminopathies: Whole-body MRI fingerprint and comparison with SEPN1-myopathy Muscle Nerve, 2015 ; :
Svahn, J., Streichenberger, N., Benveniste, O., Menassa, R., Michel, L., Fayolle, H., Petiot, P. :
Significant response to immune therapies in a case of subacute necrotizing myopathy and FKRP mutations Neuromuscul Disord, 2015 ; 25 (11) : 865-8
Significant response to immune therapies in a case of subacute necrotizing myopathy and FKRP mutations Neuromuscul Disord, 2015 ; 25 (11) : 865-8
Decorte, N., Lamalle, L., Carlier, P. G., Giacomini, E., Guinot, M., Levy, P., Verges, S., Wuyam, B. :
Impact of salbutamol on muscle metabolism assessed by PNMR spectroscopy Scand J Med Sci Sports, 2015 ; 25 (3) : e267-73
Impact of salbutamol on muscle metabolism assessed by PNMR spectroscopy Scand J Med Sci Sports, 2015 ; 25 (3) : e267-73
Berger, A., Lorain, S., Josephine, C., Desrosiers, M., Peccate, C., Voit, T., Garcia, L., Sahel, J. A., Bemelmans, A. P. :
Repair of rhodopsin mRNA by spliceosome-mediated RNA trans-splicing: a new approach for autosomal dominant retinitis pigmentosa Mol Ther, 2015 ; 23 (5) : 918-930
Repair of rhodopsin mRNA by spliceosome-mediated RNA trans-splicing: a new approach for autosomal dominant retinitis pigmentosa Mol Ther, 2015 ; 23 (5) : 918-930
Nunes, J. C., Rinnenthal, J. L., Allenbach, Y., Lenze, D., Hummel, M., Johrens, K., Walz, R., Goebel, H. H., Heppner, F. L., Stenzel, W. :
Proximal weakness in a patient with MALT lymphoma: a case report and discussion of possible pathogenesis Neuropathol Appl Neurobiol, 2015 ; 41 (5) : 686-689
Proximal weakness in a patient with MALT lymphoma: a case report and discussion of possible pathogenesis Neuropathol Appl Neurobiol, 2015 ; 41 (5) : 686-689
