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
Publications (1181)
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
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
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
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
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
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
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy Neurology, 2015 ; 85 (24) : 2126-35
Pinto-Mariz, F., Rodrigues Carvalho, L., Prufer De Queiroz Campos Araujo, A., De Mello, W., Goncalves Ribeiro, M., Cunha Mdo, C., Cabello, P. H., Riederer, I., Negroni, E., Desguerre, I., Veras, M., Yada, E., Allenbach, Y., Benveniste, O., Voit, T., Mouly, V., Silva-Barbosa, S. D., Butler-Browne, G., Savino, W. :
CD49d is a disease progression biomarker and a potential target for immunotherapy in Duchenne muscular dystrophy Skelet Muscle, 2015 ; 5 : 45
CD49d is a disease progression biomarker and a potential target for immunotherapy in Duchenne muscular dystrophy Skelet Muscle, 2015 ; 5 : 45
