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
Publications (1181)
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
Habbout, K., Poulin, H., Rivier, F., Giuliano, S., Sternberg, D., Fontaine, B., Eymard, B., Morales, R. J., Echenne, B., King, L., Hanna, M. G., Mannikko, R., Chahine, M., Nicole, S., Bendahhou, S. :
A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis Neurology, 2016 ; 86 (2) : 161-9
A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis Neurology, 2016 ; 86 (2) : 161-9
Wahbi, K., Sebag, F. A., Lellouche, N., Lazarus, A., Becane, H. M., Bassez, G., Stojkovic, T., Fayssoil, A., Laforet, P., Behin, A., Meune, C., Eymard, B., Duboc, D. :
Atrial flutter in myotonic dystrophy type 1: Patient characteristics and clinical outcome Neuromuscul Disord, 2016 ; 26 (3) : 227-33
Atrial flutter in myotonic dystrophy type 1: Patient characteristics and clinical outcome Neuromuscul Disord, 2016 ; 26 (3) : 227-33
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
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
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
