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) :
de Winter, J. M., Joureau, B., Lee, E. J., Kiss, B., Yuen, M., Gupta, V. A., Pappas, C. T., Gregorio, C. C., Stienen, G. J., Edvardson, S., Wallgren-Pettersson, C., Lehtokari, V. L., Pelin, K., Malfatti, E., Romero, N. B., Engelen, B. G., Voermans, N. C., Donkervoort, S., Bonnemann, C. G., Clarke, N. F., Beggs, A. H., Granzier, H., Ottenheijm, C. A. :
Mutation-specific effects on thin filament length in thin filament myopathy Ann Neurol, 2016 ; 79 (6) : 959-69
Mutation-specific effects on thin filament length in thin filament myopathy Ann Neurol, 2016 ; 79 (6) : 959-69
Preskey, D., Allison, T. F., Jones, M., Mamchaoui, K., Unger, C. :
Synthetically modified mRNA for efficient and fast human iPS cell generation and direct transdifferentiation to myoblasts Biochem Biophys Res Commun, 2016 ; 473 (3) : 743-51
Synthetically modified mRNA for efficient and fast human iPS cell generation and direct transdifferentiation to myoblasts Biochem Biophys Res Commun, 2016 ; 473 (3) : 743-51
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
Hamel, Y., Mamoune, A., Mauvais, F. X., Habarou, F., Lallement, L., Romero, N. B., Ottolenghi, C., de Lonlay, P. :
Acute rhabdomyolysis and inflammation J Inherit Metab Dis, 2015 ; 38 (4) : 621-628
Acute rhabdomyolysis and inflammation J Inherit Metab Dis, 2015 ; 38 (4) : 621-628
Tuzun, E., Berrih-Aknin, S., Brenner, T., Kusner, L. L., Le Panse, R., Yang, H., Tzartos, S., Christadoss, P. :
Guidelines for standard preclinical experiments in the mouse model of myasthenia gravis induced by acetylcholine receptor immunization Exp Neurol, 2015 ; 270 : 11-17
Guidelines for standard preclinical experiments in the mouse model of myasthenia gravis induced by acetylcholine receptor immunization Exp Neurol, 2015 ; 270 : 11-17
