Marsollier, A. C., Ciszewski, L., Mariot, V., Popplewell, L., Voit, T., Dickson, G., Dumonceaux, J. :
Antisense targeting of 3’end elements involved in DUX4 mRNA processing is an efficient therapeutic strategy for Facioscapulohumeral Dystrophy: a new gene silencing approach
Hum Mol Genet, 2016 ; 25 (8) : 1468-78
Publications (1184)
Fayssoil, A., Lazarus, A., Wahbi, K., Ogna, A., Nardi, O., Lofaso, F., Clair, B., Orlikowski, D., Annane, D. :
Cardiac implantable electronic devices in tracheotomized muscular dystrophy patients: Safety and risks Int J Cardiol, 2016 ; 222 : 975-977
Cardiac implantable electronic devices in tracheotomized muscular dystrophy patients: Safety and risks Int J Cardiol, 2016 ; 222 : 975-977
Cruz, S., Figueroa-Bonaparte, S., Gallardo, E., de Becdelievre, A., Gartioux, C., Allamand, V., Pinol, P., Garcia, M. A., Jimenez-Mallebriera, C., Llauger, J., Gonzalez-Rodriguez, L., Cortes-Vicente, E., Illa, I., Diaz-Manera, J. :
Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum J Neuromuscul Dis, 2016 ; 3 (2) : 267-274
Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum J Neuromuscul Dis, 2016 ; 3 (2) : 267-274
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
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
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
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
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
