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 (1181)
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
Ziat, E., Mamchaoui, K., Beuvin, M., Nelson, I., Azibani, F., Spuler, S., Bonne, G., Bertrand, A. T. :
FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy J Neuromuscul Dis, 2016 ; 3 (4) : 497-510
FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy J Neuromuscul Dis, 2016 ; 3 (4) : 497-510
Saunier, M., Bonnemann, C. G., Durbeej, M., Allamand, V., C. M. D. Animal Model Consortium :
212th ENMC International Workshop:: Animal models of congenital muscular dystrophies, Naarden, The Netherlands, 29-31 May 2015 Neuromuscul Disord, 2016 ; 26 (3) : 252-9
212th ENMC International Workshop:: Animal models of congenital muscular dystrophies, Naarden, The Netherlands, 29-31 May 2015 Neuromuscul Disord, 2016 ; 26 (3) : 252-9
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
Servian-Morilla, E., Takeuchi, H., Lee, T. V., Clarimon, J., Mavillard, F., Area-Gomez, E., Rivas, E., Nieto-Gonzalez, J. L., Rivero, M. C., Cabrera-Serrano, M., Gomez-Sanchez, L., Martinez-Lopez, J. A., Estrada, B., Marquez, C., Morgado, Y., Suarez-Calvet, X., Pita, G., Bigot, A., Gallardo, E., Fernandez-Chacon, R., Hirano, M., Haltiwanger, R. S., Jafar-Nejad, H., Paradas, C. :
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss EMBO Mol Med, 2016 ; 8 (11) : 1289-1309
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss EMBO Mol Med, 2016 ; 8 (11) : 1289-1309
Possidonio, A. C., Soares, C. P., Fontenelle, M., Morris, E. R., Mouly, V., Costa, M. L., Mermelstein, C. :
Knockdown of Lmo7 inhibits chick myogenesis FEBS Lett, 2016 ; 590 (3) : 317-29
Knockdown of Lmo7 inhibits chick myogenesis FEBS Lett, 2016 ; 590 (3) : 317-29
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