Publications (1181)

Klein, A. F., Dastidar, S., Furling, D., Chuah, M. K. :
Therapeutic Approaches for Dominant Muscle Diseases: Highlight on Myotonic Dystrophy Curr Gene Ther, 2015 ; 15 (4) : 329-37
Ferry, A., Benchaouir, R., Joanne, P., Peat, R. A., Mougenot, N., Agbulut, O., Butler-Browne, G. :
Effect of voluntary physical activity initiated at age 7 months on skeletal hindlimb and cardiac muscle function in mdx mice of both sexes Muscle Nerve, 2015 ; 52 (5) : 788-94
Todd, E. J., Yau, K. S., Ong, R., Slee, J., McGillivray, G., Barnett, C. P., Haliloglu, G., Talim, B., Akcoren, Z., Kariminejad, A., Cairns, A., Clarke, N. F., Freckmann, M. L., Romero, N. B., Williams, D., Sewry, C. A., Colley, A., Ryan, M. M., Kiraly-Borri, C., Sivadorai, P., Allcock, R. J., Beeson, D., Maxwell, S., Davis, M. R., Laing, N. G., Ravenscroft, G. :
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth Orphanet J Rare Dis, 2015 ; 10 (1) : 148
Huerta, E., Jacquette, A., Cohen, D., Gargiulo, M., Servais, L, Eymard, B, Angeard, N. :
Forme infantile de la dystrophie myotonique de type 1 (DM1) et troubles du spectre autistique (TSA): existe-t-il une comorbidité ? Neuropsychiatrie de l'Enfance et de l'Adolescence, 2015 ; 63 (2) : 91-98
Zimon, M., Battaloglu, E., Parman, Y., Erdem, S., Baets, J., De Vriendt, E., Atkinson, D., Almeida-Souza, L., Deconinck, T., Ozes, B., Goossens, D., Cirak, S., Van Damme, P., Shboul, M., Voit, T., Van Maldergem, L., Dan, B., El-Khateeb, M. S., Guergueltcheva, V., Lopez-Laso, E., Goemans, N., Masri, A., Zuchner, S., Timmerman, V., Topaloglu, H., De Jonghe, P., Jordanova, A. :
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach Neurogenetics, 2015 ; 16 (1) : 33-42
Marty, B., Vignaud, A., Greiser, A., Robert, B., de Sousa, P. L., Carlier, P. G. :
BLOCH equations-based reconstruction of myocardium t1 maps from modified look-locker inversion recovery sequence PLoS ONE, 2015 ; 10 (5) : e0126766
Svahn, J., Streichenberger, N., Benveniste, O., Menassa, R., Michel, L., Fayolle, H., Petiot, P. :
Significant response to immune therapies in a case of subacute necrotizing myopathy and FKRP mutations Neuromuscul Disord, 2015 ; 25 (11) : 865-8
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