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
Publications (1184)
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
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) :
Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification Rev Neurol (Paris), 2016 ; (sp) :
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
