Publications (1184)

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
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
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
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
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
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
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
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
PĂ©riĂ©, S, Trollet, C, Mouly, V, Vanneaux, V, Mamchaoui, K, Bouazza, B, Marolleau, J P, LaforĂȘt, P, Chapon, F, Eymard, B, Butler-Browne, G, Larghero, J, Lacau St Guily, J. :
Autologous myoblast transplantation for oculopharyngeal muscular dystrophy: a Phase I/IIa clinical study. Mol Ther, 2014 ; 22 (1) : 219-25
Willis, T. A., Hollingsworth, K. G., Coombs, A., Sveen, M. L., Andersen, S., Stojkovic, T., Eagle, M., Mayhew, A., de Sousa, P. L., Dewar, L., Morrow, J. M., Sinclair, C. D., Thornton, J. S., Bushby, K., Lochmuller, H., Hanna, M. G., Hogrel, J. Y., Carlier, P. G., Vissing, J., Straub, V. :
Quantitative Magnetic Resonance Imaging in Limb-Girdle Muscular Dystrophy 2I: A Multinational Cross-Sectional Study PLoS ONE, 2014 ; 9 (2) : e90377