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
Publications (1181)
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
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
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
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
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
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
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
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
In Vitro and In Vivo Modulation of Alternative Splicing by the Biguanide Metformin Mol Ther Nucleic Acids, 2015 ; 4 : e262
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
SHOULD patients with asymptomatic pompe disease be treated? A nationwide study in france Muscle Nerve, 2015 ; 51 (6) : 884-889
