Garibaldi, M., Bohm, J., Fattori, F., Koch, C., Surace, C., Ottaviani, P., Laschena, F., Laporte, J., Bertini, E., Antonini, G., Romero, N. B. :
Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation
J Neuromuscul Dis, 2016 ; 3 (1) : 111-114
Publications (1184)
Bouchereau, J., Barrot, S. V., Dupre, T., Moore, S. E., Cardas, R., Capri, Y., Gaignard, P., Slama, A., Delanoe, C., de Baulny, H. O., Seta, N., Schiff, M., Servais, L. :
Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants JIMD Rep, 2016 ; :
Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants JIMD Rep, 2016 ; :
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
216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15-17, 2016 Naarden, The Netherlands Neuromuscul Disord, 2016 ; 26 (10) : 717-724
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
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
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
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
