Fayssoil, A., Ogna, A., Chaffaut, C., Chevret, S., Guimaraes-Costa, R., Leturcq, F., Wahbi, K., Prigent, H., Lofaso, F., Nardi, O., Clair, B., Behin, A., Stojkovic, T., Laforet, P., Orlikowski, D., Annane, D. :
Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D
PLoS ONE, 2016 ; 11 (4) : e0153095
Publications (1184)
Oestergaard, S. T., Stojkovic, T., Dahlqvist, J. R., Bouchet-Seraphin, C., Nectoux, J., Leturcq, F., Cossee, M., Sole, G., Thomsen, C., Krag, T. O., Vissing, J. :
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T) Neurol Genet, 2016 ; 2 (6) : e112
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T) Neurol Genet, 2016 ; 2 (6) : e112
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
Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation J Neuromuscul Dis, 2016 ; 3 (1) : 111-114
Kaplan, J C, Hamroun, D, Rivier, F, Bonne, G :
The 2017 version of the gene table of monogenic neuromuscular disorders (nuclear genome) Neuromuscul Disord, 2016 ; 26 (16) : 895-929
The 2017 version of the gene table of monogenic neuromuscular disorders (nuclear genome) Neuromuscul Disord, 2016 ; 26 (16) : 895-929
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
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
