Lauritzen, I., Pardossi-Piquard, R., Bourgeois, A., Pagnotta, S., Biferi, M. G., Barkats, M., Lacor, P., Klein, W., Bauer, C., Checler, F. :
Intraneuronal aggregation of the beta-CTF fragment of APP (C99) induces Abeta-independent lysosomal-autophagic pathology
Acta Neuropathol, 2016 ; 132 (2) : 257-76
Publications (1184)
Masat, E., Laforet, P., De Antonio, M., Corre, G., Perniconi, B., Taouagh, N., Mariampillai, K., Amelin, D., Mauhin, W., Hogrel, J. Y., Caillaud, C., Ronzitti, G., Puzzo, F., Kuranda, K., Colella, P., Mallone, R., Benveniste, O., Mingozzi, F. :
Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients Sci Rep, 2016 ; 6 : 36182
Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients Sci Rep, 2016 ; 6 : 36182
Bohm, M., Wachtel, M., Marques, J. G., Streiff, N., Laubscher, D., Nanni, P., Mamchaoui, K., Santoro, R., Schafer, B. W. :
Helicase CHD4 is an epigenetic coregulator of PAX3-FOXO1 in alveolar rhabdomyosarcoma J Clin Invest, 2016 ; 126 (11) : 4237-4249
Helicase CHD4 is an epigenetic coregulator of PAX3-FOXO1 in alveolar rhabdomyosarcoma J Clin Invest, 2016 ; 126 (11) : 4237-4249
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
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
