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
Publications (1184)
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
Ferreboeuf, M., Mariot, V., Bessieres, B., Vasiljevic, A., Attie-Bitach, T., Collardeau, S., Morere, J., Roche, S., Magdinier, F., Robin-Ducellier, J., Rameau, P., Whalen, S., Desnuelle, C., Sacconi, S., Mouly, V., Butler-Browne, G., Dumonceaux, J. :
DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles Hum Mol Genet, 2014 ; 23 (1) : 171-81
DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles Hum Mol Genet, 2014 ; 23 (1) : 171-81
Mazzone, E., De Sanctis, R., Fanelli, L., Bianco, F., Main, M., van den Hauwe, M., Ash, M., de Vries, R., Fagoaga Mata, J., Schaefer, K., D'Amico, A., Colia, G., Palermo, C., Scoto, M., Mayhew, A., Eagle, M., Servais, L., Vigo, M., Febrer, A., Korinthenberg, R., Jeukens, M., de Viesser, M., Totoescu, A., Voit, T., Bushby, K., Muntoni, F., Goemans, N., Bertini, E., Pane, M., Mercuri, E. :
Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients Neuromuscul Disord, 2014 ; 24 (4) : 347-52
Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients Neuromuscul Disord, 2014 ; 24 (4) : 347-52
Anthony, K., Arechavala-Gomeza, V., Taylor, L. E., Vulin, A., Kaminoh, Y., Torelli, S., Feng, L., Janghra, N., Bonne, G., Beuvin, M., Barresi, R., Henderson, M., Laval, S., Lourbakos, A., Campion, G., Straub, V., Voit, T., Sewry, C. A., Morgan, J. E., Flanigan, K. M., Muntoni, F. :
Dystrophin quantification: Biological and translational research implications Neurology, 2014 ; 83 (22) : 2062-9
Dystrophin quantification: Biological and translational research implications Neurology, 2014 ; 83 (22) : 2062-9
Castiglioni, C., Cassandrini, D., Fattori, F., Bellacchio, E., D'Amico, A., Alvarez, K., Gejman, R., Diaz, J., Santorelli, F. M., Romero, N. B., Bertini, E., Bevilacqua, J. A. :
Muscle MRI and histopathology in ACTA1-related congenital nemaline myopathy Muscle Nerve, 2014 ; 50 (6) : 1011-6
Muscle MRI and histopathology in ACTA1-related congenital nemaline myopathy Muscle Nerve, 2014 ; 50 (6) : 1011-6
Gauthier, M., Marteyn, A., Denis, J. A., Cailleret, M., Giraud-Triboult, K., Aubert, S., Lecuyer, C., Marie, J., Furling, D., Vernet, R., Yanguas, C., Baldeschi, C., Pietu, G., Peschanski, M., Martinat, C. :
A defective Krab-domain zinc-finger transcription factor contributes to altered myogenesis in myotonic dystrophy type 1 Hum Mol Genet, 2014 ; 22 (25) : 5188-98
A defective Krab-domain zinc-finger transcription factor contributes to altered myogenesis in myotonic dystrophy type 1 Hum Mol Genet, 2014 ; 22 (25) : 5188-98
