Publications (1184)

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
Périé, S, Trollet, C, Mouly, V, Vanneaux, V, Mamchaoui, K, Bouazza, B, Marolleau, J P, Laforêt, 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
Ben-Ami, E., Miller, A., Berrih-Aknin, S. :
T cells from autoimmune patients display reduced sensitivity to immunoregulation by mesenchymal stem cells: Role of IL-2 Autoimmun Rev, 2014 ; 13 (2) : 187-96
Degos, B., Laforet, P., Jardel, C., Sedel, F., Jossay-Winter, M., Romero, N. B., Lyon-Caen, O., Tourbah, A. :
POLG mutations associated with remitting/relapsing neurological events J Clin Neurosci, 2014 ; 21 (1) : 186-8
Langhans, C., Weber-Carstens, S., Schmidt, F., Hamati, J., Kny, M., Zhu, X., Wollersheim, T., Koch, S., Krebs, M., Schulz, H., Lodka, D., Saar, K., Labeit, S., Spies, C., Hubner, N., Spranger, J., Spuler, S., Boschmann, M., Dittmar, G., Butler-Browne, G., Mouly, V., Fielitz, J. :
Inflammation-induced acute phase response in skeletal muscle and critical illness myopathy PLoS ONE, 2014 ; 9 (3) : e92048