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
Publications (1184)
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
Reijnierse, E. M., Trappenburg, M. C., Leter, M. J., Sipila, S., Stenroth, L., Narici, M. V., Hogrel, J. Y., Butler-Browne, G., McPhee, J. S., Paasuke, M., Gapeyeva, H., Meskers, C. G., Maier, A. B. :
Serum albumin and muscle measures in a cohort of healthy young and old participants Age (Dordr), 2015 ; 37 (5) : 88
Serum albumin and muscle measures in a cohort of healthy young and old participants Age (Dordr), 2015 ; 37 (5) : 88
