Tal-Goldberg, T., Lorain, S., Mitrani-Rosenbaum, S. :
Correction of the Middle Eastern M712T Mutation Causing GNE Myopathy by Trans-Splicing
Neuromolecular Med, 2014 ; 16 (2) : 322-3
Publications (1184)
Ameye, H., Ruttens, D., Benveniste, O., Verleden, G. M., Wuyts, W. A. :
Is lung transplantation a valuable therapeutic option for patients with pulmonary polymyositis? Experiences from the leuven transplant cohort Transplant Proc, 2014 ; 46 (9) : 3147-53
Is lung transplantation a valuable therapeutic option for patients with pulmonary polymyositis? Experiences from the leuven transplant cohort Transplant Proc, 2014 ; 46 (9) : 3147-53
Carlier, P. G. :
Global T2 versus water T2 in NMR imaging of fatty infiltrated muscles: Different methodology, different information and different implications Neuromuscul Disord, 2014 ; 24 (5) : 390-2
Global T2 versus water T2 in NMR imaging of fatty infiltrated muscles: Different methodology, different information and different implications Neuromuscul Disord, 2014 ; 24 (5) : 390-2
Gargiulo, M., Herson, A., Angeard, N. :
L’annonce d’une maladie neuromusculaire à l’enfant: un partage de questions, d’information et d’émotions Cahier de Myologie, 2014 ; 11 : 11-13
L’annonce d’une maladie neuromusculaire à l’enfant: un partage de questions, d’information et d’émotions Cahier de Myologie, 2014 ; 11 : 11-13
Palmio, J., Evila, A., Chapon, F., Tasca, G., Xiang, F., Bradvik, B., Eymard, B., Echaniz-Laguna, A., Laporte, J., Karppa, M., Mahjneh, I., Quinlivan, R., Laforet, P., Damian, M., Berardo, A., Taratuto, A. L., Bueri, J. A., Tommiska, J., Raivio, T., Tuerk, M., Golitz, P., Chevessier, F., Sewry, C., Norwood, F., Hedberg, C., Schroder, R., Edstrom, L., Oldfors, A., Hackman, P., Udd, B. :
Hereditary myopathy with early respiratory failure: occurrence in various populations J Neurol Neurosurg Psychiatry, 2014 ; 85 (3) : 345-53
Hereditary myopathy with early respiratory failure: occurrence in various populations J Neurol Neurosurg Psychiatry, 2014 ; 85 (3) : 345-53
Wilding, B. R., McGrath, M. J., Bonne, G., Mitchell, C. A. :
FHL1 mutations that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation J Cell Sci, 2014 ; 127 (Pt 10) : 2269-81
FHL1 mutations that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation J Cell Sci, 2014 ; 127 (Pt 10) : 2269-81
Behrens-Gawlik, V., Mearini, G., Gedicke-Hornung, C., Richard, P., Carrier, L. :
MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction Pflugers Arch, 2014 ; 466 (2) : 215-23
MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction Pflugers Arch, 2014 ; 466 (2) : 215-23
Laforet, P., Laloui, K., Granger, B., Hamroun, D., Taouagh, N., Hogrel, J. Y., Orlikowski, D., Bouhour, F., Lacour, A., Salort-Campana, E., Penisson-Besnier, I., Sacconi, S., Zagnoli, F., Chapon, F., Eymard, B., Desnuelle, C., Pouget, J. :
The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease Rev Neurol (Paris), 2014 ; 169 (8-9) : 595-602
The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease Rev Neurol (Paris), 2014 ; 169 (8-9) : 595-602
Rouillon, J., Zocevic, A., Leger, T., Garcia, C., Camadro, J. M., Udd, B., Wong, B., Servais, L., Voit, T., Svinartchouk, F. :
Proteomics profiling of urine reveals specific titin fragments as biomarkers of Duchenne muscular dystrophy Neuromuscul Disord, 2014 ; 24 (7) : 563-573
Proteomics profiling of urine reveals specific titin fragments as biomarkers of Duchenne muscular dystrophy Neuromuscul Disord, 2014 ; 24 (7) : 563-573
Bijlsma, A. Y., Meskers, C. G., van den Eshof, N., Westendorp, R. G., Sipila, S., Stenroth, L., Sillanpaa, E., McPhee, J. S., Jones, D. A., Narici, M. V., Gapeyeva, H., Paasuke, M., Voit, T., Barnouin, Y., Hogrel, J. Y., Butler-Browne, G., Maier, A. B. :
Diagnostic criteria for sarcopenia and physical performance Age (Dordr), 2014 ; 36(1):275-85 (1) : 275-85
Diagnostic criteria for sarcopenia and physical performance Age (Dordr), 2014 ; 36(1):275-85 (1) : 275-85
