未登录 Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins Alves, Sandro; Marais, Thibaut; Biferi, Maria-Grazia; Furling, Denis; Marinello, Martina; El Hachimi, Khalid; Cartier, Nathalie; Ruberg, Merle; Stevanin, Giovanni; Brice, Alexis; Barkats, Martine; Sittler, Annie 分享 收藏
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders Nava, Caroline; Rupp, Johanna; Boissel, Jean-Paul; Mignot, Cyril; Rastetter, Agnes; Amiet, Claire; Jacquette, Aurelia; Dupuits, Celine; Bouteiller, Delphine; Keren, Boris; Ruberg, Merle; Faudet, Anne; Doummar, Diane; Philippe, Anne; Perisse, Didier; Laurent, Claudine; Lebrun, Nicolas; Guillemot, Vincent; Chelly, Jamel; Cohen, David; Heron, Delphine; Brice, Alexis; Closs, Ellen I.; Depienne, Christel 分享 收藏
The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice Alves, Sandro; Cormier-Dequaire, Florence; Marinello, Martina; Marais, Thibaut; Muriel, Marie-Paule; Beaumatin, Florian; Charbonnier-Beaupel, Fanny; Tahiri, Khadija; Seilhean, Danielle; El Hachimi, Khalid; Ruberg, Merle; Stevanin, Giovanni; Barkats, Martine; den Dunnen, Wilfred; Priault, Muriel; Brice, Alexis; Durr, Alexandra; Corvol, Jean-Christophe; Sittler, Annie 分享 收藏
C9ORF72 Repeat Expansions in the Frontotemporal Dementias Spectrum of Diseases: A Flow-chart for Genetic Testing 额颞叶痴呆疾病谱中的C9ORF72重复扩增: 基因检测流程图 Le Ber, Isabelle; Camuzat, Agnes; Guillot-Noel, Lena; Hannequin, Didier; Lacomblez, Lucette; Golfier, Veronique; Puel, Michele; Martinaud, Olivier; Deramecourt, Vincent; Rivaud-Pechoux, Sophie; Millecamps, Stephanie; Vercelletto, Martine; Couratier, Philippe; Sellal, Francois; Pasquier, Florence; Salachas, Francois; Thomas-Anterion, Catherine; Didic, Mira; Pariente, Jeremie; Seilhean, Danielle; Ruberg, Merle; Wargon, Isabelle; Blanc, Frederic; Camu, William; Michel, Bernard-Francis; Berger, Eric; Sauvee, Mathilde; Thauvin-Robinet, Christel; Mondon, Karl; Tournier-Lasserve, Elisabeth; Goizet, Cyril; Fleury, Marie; Viennet, Gabriel; Verpillat, Patrice; Meininger, Vincent; Duyckaerts, Charles; Dubois, Bruno; Brice, Alexis 分享 收藏
Interferon beta induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in mice Chort, Alice; Alves, Sandro; Marinello, Martina; Dufresnois, Beatrice; Dornbierer, Jean-Gabriel; Tesson, Christelle; Latouche, Morwena; Baker, Darren P.; Barkats, Martine; El Hachimi, Khalid H.; Ruberg, Merle; Janer, Alexandre; Stevanin, Giovanni; Brice, Alexis; Sittler, Annie 分享 收藏
Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females Depienne, Christel; Bouteiller, Delphine; Keren, Boris; Cheuret, Emmanuel; Poirier, Karine; Trouillard, Oriane; Benyahia, Baya; Quelin, Chloe; Carpentier, Wassila; Julia, Sophie; Afenjar, Alexandra; Gautier, Agnes; Rivier, Francois; Meyer, Sophie; Berquin, Patrick; Helias, Marie; Py, Isabelle; Rivera, Serge; Bahi-Buisson, Nadia; Gourfinkel-An, Isabelle; Cazeneuve, Cecile; Ruberg, Merle; Brice, Alexis; Nabbout, Rima; LeGuern, Eric 分享 收藏
In vivo evidence for cerebral depletion in high-energy phosphates in progressive supranuclear palsy Stamelou, Maria; Pilatus, Ulrich; Reuss, Alexander; Magerkurth, Joerg; Eggert, Karla M.; Knake, Susanne; Ruberg, Merle; Schade-Brittinger, Carmen; Oertel, Wolfgang H.; Hoeglinger, Guenter U. 分享 收藏
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Composite cerebellar functional severity score:: validation of a quantitative score of cerebellar impairment Du Montcel, Sophie Tezenas; Charles, Perrine; Ribai, Pascale; Goizet, Cyril; Le Bayon, Alice; Labauge, Pierre; Guyant-Marechal, Lucie; Forlani, Sylvie; Jauffret, Celine; Vandenberghe, Nadia; N'Guyen, Karine; Le Ber, Isabelle; Devos, David; Vincitorio, Carlo-Maria; Manto, Mario-Ubaldo; Tison, Francois; Hannequin, Didier; Ruberg, Merle; Brice, Alexis; Durr, Alexandra 分享 收藏
REM sleep behavior disorder in patients with guadeloupean parkinsonism, a tauopathy De Cock, Valerie Cochen; Lannuzel, Annie; Verhaeghe, Stephane; Roze, Emmanuel; Ruberg, Merle; Derenne, Jean Philippe; Willer, Jean Claude; Vidailhet, Marie; Arnulf, Isabelle 分享 收藏
Stimulation of subterritories of the subthalamic nucleus reveals its role in the integration of the emotional and motor aspects of behavior Mallet, Luc; Schuepbach, Michael; N'Diaye, Karim; Remy, Philippe; Bardinet, Eric; Czernecki, Virginie; Welter, Marie-Laure; Pelissolo, Antoine; Ruberg, Merle; Agid, Yves; Yelnik, Jerome 分享 收藏
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Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia Depienne, Christel; Fedirko, Estelle; Forlani, Sylvie; Cazeneuve, Cecile; Ribai, Pascale; Feki, Imed; Tallaksen, Chantal; Nguyen, Karine; Stankoff, Bruno; Ruberg, Merle; Stevanin, Giovanni; Durr, Alexandra; Brice, Alexis 分享 收藏
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum Stevanin, Giovanni; Santorelli, Filippo M.; Azzedine, Hamid; Coutinho, Paula; Chomilier, Jacques; Denora, Paola S.; Martin, Elodie; Ouvrard-Hernandez, Anne-Marie; Tessa, Alessandra; Bouslam, Naima; Lossos, Alexander; Charles, Perrine; Loureiro, Jose L.; Elleuch, Nizar; Confavreux, Christian; Cruz, Vitor T.; Ruberg, Merle; Leguern, Eric; Grid, Djamel; Tazir, Meriem; Fontaine, Bertrand; Filla, Alessandro; Bertini, Enrico; Durr, Alexandra; Brice, Alexis 分享 收藏
Atypical parkinsonism in Guadeloupe:: a common risk factor for two closely related phenotypes? Lannuzel, Annie; Hoglinger, G. U.; Verhaeghe, S.; Gire, L.; Belson, S.; Escobar-Khondiker, M.; Poullain, P.; Oertel, W. H.; Hirsch, E. C.; Dubois, B.; Ruberg, M. 分享 收藏
Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families Bouhouche, Ahmed; Birouk, Nazha; Azzedine, Hamid; Benomar, Ali; Durosier, Garry; Ente, Dorothee; Muriel, Marie-Paule; Ruberg, Merle; Slassi, Ilham; Yahyaoui, Mohamed; Dubourg, Odile; Ouazzani, Reda; LeGuern, Eric 分享 收藏
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Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations Azzedine, H.; Ravise, N.; Verny, C.; Gabreels-Festen, A.; Lammens, M.; Grid, D.; Vallat, J. M.; Durosier, G.; Senderek, J.; Nouioua, S.; Hamadouche, T.; Bouhouche, A.; Guilbot, A.; Stendel, C.; Ruberg, M.; Brice, A.; Birouk, N.; Dubourg, O.; Tazir, M.; LeGuern, E. 分享 收藏
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