Publications (1181)

Benveniste, O., Stenzel, W., Hilton-Jones, D., Sandri, M., Boyer, O., van Engelen, B. G. :
Amyloid deposits and inflammatory infiltrates in sporadic inclusion body myositis: the inflammatory egg comes before the degenerative chicken Acta Neuropathol, 2015 ; 129 (5) : 611-624
Nicolas, A., Raguenes-Nicol, C., Ben Yaou, R., Ameziane-Le Hir, S., Cheron, A., Vie, V., Claustres, M., Leturcq, F., Delalande, O., Hubert, J. F., Tuffery-Giraud, S., Giudice, E., Le Rumeur, E., the French Network of Clinical Reference Centres for Neuromuscular, Diseases :
Becker muscular dystrophy severity is linked to the structure of dystrophin Hum Mol Genet, 2015 ; 24 (5) : 1267-1279
Gallais, B., Montreuil, M., Gargiulo, M., Eymard, B., Gagnon, C., Laberge, L. :
Prevalence and correlates of apathy in myotonic dystrophy type 1 BMC Neurol, 2015 ; 15 : 148
Laustriat, D., Gide, J., Barrault, L., Chautard, E., Benoit, C., Auboeuf, D., Boland, A., Battail, C., Artiguenave, F., Deleuze, J. F., Benit, P., Rustin, P., Franc, S., Charpentier, G., Furling, D., Bassez, G., Nissan, X., Martinat, C., Peschanski, M., Baghdoyan, S. :
In Vitro and In Vivo Modulation of Alternative Splicing by the Biguanide Metformin Mol Ther Nucleic Acids, 2015 ; 4 : e262
Donkervoort, S., Hu, Y., Stojkovic, T., Voermans, N., Foley, A. R., Leach, M. E., Dastgir, J., Bolduc, V., Cullup, T., de Becdelievre, A., Yang, L., Su, H., Meilleur, K., Schindler, A. B., Kamsteeg, E. J., Richard, P., Butterfield, R., Winder, T. L., Crawford, T., Weiss, R. B., Muntoni, F., Allamand, V., Bonnemann, C. G. :
Mosaicism for Dominant Collagen VI Mutations as a Cause for Intra-Familial Phenotypic Variability Hum Mutat, 2015 ; 36 (1) : 48-56
Echaniz-Laguna, A., Carlier, R. Y., Laloui, K., Carlier, P., Salort-Campana, E., Pouget, J., Laforet, P. :
SHOULD patients with asymptomatic pompe disease be treated? A nationwide study in france Muscle Nerve, 2015 ; 51 (6) : 884-889
Seferian, A. M., Moraux, A., Canal, A., Decostre, V., Diebate, O., Le Moing, A. G., Gidaro, T., Deconinck, N., Van Parys, F., Vereecke, W., Wittevrongel, S., Annoussamy, M., Mayer, M., Maincent, K., Cuisset, J. M., Tiffreau, V., Denis, S., Jousten, V., Quijano-Roy, S., Voit, T., Hogrel, J. Y., Servais, L. :
Upper limb evaluation and one-year follow up of non-ambulant patients with spinal muscular atrophy: an observational multicenter trial PLoS ONE, 2015 ; 10 (4) : e0121799
Azzabou, N., Hogrel, J. Y., Carlier, P. G. :
NMR based biomarkers to study age-related changes in the human quadriceps Exp Gerontol, 2015 ; 70 : 54-60
Mariot, V, Roche, S, Hourdé, C, Portilho, D, Sacconi, S, Puppo, P, Duguez, S, Rameau, P, Caruso, N, Delezoide, A L, Desnuelle, C, Bessières, B, Collardeau, S, Feasson, L, Maisonobe, T, Magdinier, F, Helmbacher, F, Butler-Browne, G, Mouly, V, Dumonceaux, J :
Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy. Ann Neurol, 2015 ; 78 (3) : 387-400
De Cid, R., Ben Yaou, R., Roudaut, C., Charton, K., Baulande, S., Leturcq, F., Romero, N. B., Malfatti, E., Beuvin, M., Vihola, A., Criqui, A., Nelson, I., Nectoux, J., Ben Aim, L., Caloustian, C., Olaso, R., Udd, B., Bonne, G., Eymard, B., Richard, I. :
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy Neurology, 2015 ; 85 (24) : 2126-35