De Antonio, M., Dogan, C., Hamroun, D., Mati, M., Zerrouki, S., Eymard, B., Katsahian, S., Bassez, G., French Myotonic Dystrophy Clinical, Network :
Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification
Rev Neurol (Paris), 2016 ; (sp) :
Publications (1184)
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
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
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
Seferian, A. M., Malfatti, E., Bosson, C., Pelletier, L., Taytard, J., Forin, V., Gidaro, T., Gargaun, E., Carlier, P., Faure, J., Romero, N. B., Rendu, J., Servais, L. :
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8) Neuromuscul Disord, 2016 ; 26 (10) : 712-716
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8) Neuromuscul Disord, 2016 ; 26 (10) : 712-716
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
Lacour, F, Vezin, E, Bentzinger, F, Sincennes, M C, Rudnicki, M A, Mitchell, R D, Patel, K, Chaboissier, M C, Chassot, A A, Le Grand, F :
R-spondin1 regulates muscle progenitor cell fusion through control of antagonist Wnt signaling pathways bioRxiv, 2016 ; : 063669
R-spondin1 regulates muscle progenitor cell fusion through control of antagonist Wnt signaling pathways bioRxiv, 2016 ; : 063669
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
