Richard, I., Laurent, J. P., Cirak, S., Vissing, J., Brown, S, Campbell, K, Cirak, S, Gicquel, E, Hogrel, J Y, Honnet, G, Koelma, N, Laurent, J P, Mathews, K, Muntoni, F, Quijano-Roy, S, Richard, I, Robertson, A, Stevenson, H, Stojkovic, T, Straub, V, Topaloglu, H, Vajsar, J, Vissing, J, Walter, M :
216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15-17, 2016 Naarden, The Netherlands
Neuromuscul Disord, 2016 ; 26 (10) : 717-724
Publications (1184)
Richard, I., Hogrel, J. Y., Stockholm, D., Payan, C. A., Fougerousse, F., Eymard, B., Mignard, C., Lopez de Munain, A., Fardeau, M., Urtizberea, J. A. :
Natural history of LGMD2A for delineating outcome measures in clinical trials Ann Clin Transl Neurol, 2016 ; 3 (4) : 248-65
Natural history of LGMD2A for delineating outcome measures in clinical trials Ann Clin Transl Neurol, 2016 ; 3 (4) : 248-65
Maggio, I., Stefanucci, L., Janssen, J. M., Liu, J., Chen, X., Mouly, V., Goncalves, M. A. :
Selection-free gene repair after adenoviral vector transduction of designer nucleases: rescue of dystrophin synthesis in DMD muscle cell populations Nucleic Acids Res, 2016 ; 44 (3) : 1449-70
Selection-free gene repair after adenoviral vector transduction of designer nucleases: rescue of dystrophin synthesis in DMD muscle cell populations Nucleic Acids Res, 2016 ; 44 (3) : 1449-70
Harris, E., Bladen, C. L., Mayhew, A., James, M., Bettinson, K., Moore, U., Smith, F. E., Rufibach, L., Cnaan, A., Bharucha-Goebel, D. X., Blamire, A. M., Bravver, E., Carlier, P. G., Day, J. W., Diaz-Manera, J., Eagle, M., Grieben, U., Harms, M., Jones, K. J., Lochmuller, H., Mendell, J. R., Mori-Yoshimura, M., Paradas, C., Pegoraro, E., Pestronk, A., Salort-Campana, E., Schreiber-Katz, O., Semplicini, C., Spuler, S., Stojkovic, T., Straub, V., Takeda, S., Rocha, C. T., Walter, M. C., Bushby, K., Jain, C. O. S. Consortium :
The Clinical Outcome Study for dysferlinopathy: An international multicenter study Neurol Genet, 2016 ; 2 (4) : e89
The Clinical Outcome Study for dysferlinopathy: An international multicenter study Neurol Genet, 2016 ; 2 (4) : e89
Holt, I., Duong, N. T., Zhang, Q., Lam le, T., Sewry, C. A., Mamchaoui, K., Shanahan, C. M., Morris, G. E. :
Specific localization of nesprin-1-alpha2, the short isoform of nesprin-1 with a KASH domain, in developing, fetal and regenerating muscle, using a new monoclonal antibody BMC Cell Biol, 2016 ; 17 (1) : 26
Specific localization of nesprin-1-alpha2, the short isoform of nesprin-1 with a KASH domain, in developing, fetal and regenerating muscle, using a new monoclonal antibody BMC Cell Biol, 2016 ; 17 (1) : 26
Preusse, C., Allenbach, Y., Hoffmann, O., Goebel, H. H., Pehl, D., Radke, J., Doeser, A., Schneider, U., Alten, R. H., Kallinich, T., Benveniste, O., von Moers, A., Schoser, B., Schara, U., Stenzel, W. :
Differential roles of hypoxia and innate immunity in juvenile and adult dermatomyositis Acta Neuropathol Commun, 2016 ; 4 (1) : 45
Differential roles of hypoxia and innate immunity in juvenile and adult dermatomyositis Acta Neuropathol Commun, 2016 ; 4 (1) : 45
Eymard, B., Camdessanche, J. P. :
Foreword Rev Neurol (Paris), 2016 ; 172 (10) : 537-538
Foreword Rev Neurol (Paris), 2016 ; 172 (10) : 537-538
Fardeau, M., Rouche, A., Vassilopoulos, S., Romero, N. B., Brochier, G., Bui, M. T., Labasse, C., Madelaine, A. :
Sur la technique des biopsies musculaires (III) – L’apport de la microscopie electronique, hier, et a l’heure de la genetique moleculaire : un survol historique. Med Sci (Paris), 2016 ; 32 Hors Serie : 6-9
Sur la technique des biopsies musculaires (III) – L’apport de la microscopie electronique, hier, et a l’heure de la genetique moleculaire : un survol historique. Med Sci (Paris), 2016 ; 32 Hors Serie : 6-9
Allenbach, Y, Leroux, G, Preusse, C, Suarez Calvet, X, Gallardo, E, Hervier, B, Rigolet, A, Hie, M, Limal, N, Hufnagl, P, Zerbe, N, Meyer, A, Maisonobe, T, Aouizerate, J, Uzunhan, Y, Goebel, H H, Benveniste, O, Stenzel, W :
Dermatomyositis with or without anti-MDA5 antibodies: common Interferon signature but distinct NOS2 expression Acta Neuropathol Commun, 2015 ; (SP) :
Dermatomyositis with or without anti-MDA5 antibodies: common Interferon signature but distinct NOS2 expression Acta Neuropathol Commun, 2015 ; (SP) :
Michon, C. C., Gargiulo, M., Hahn-Barma, V., Petit, F., Nadaj-Pakleza, A., Herson, A., Eymard, B., Labrune, P., Laforet, P. :
Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases J Inherit Metab Dis, 2015 ; 38 (3) : 573-580
Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases J Inherit Metab Dis, 2015 ; 38 (3) : 573-580
