未登录 Amyloid-β peptide signature associated with cerebral amyloid angiopathy in familial Alzheimer's disease with APPdup and Down syndrome 伴有APPdup和唐氏综合症的家族性阿尔茨海默氏病中与脑淀粉样血管病相关的淀粉样 β 肽特征 Kasri, Amal; Camporesi, Elena; Gkanatsiou, Eleni; Boluda, Susana; Brinkmalm, Gunnar; Stimmer, Lev; Ge, Junyue; Hanrieder, Jorg; Villain, Nicolas; Duyckaerts, Charles; Vermeiren, Yannick; Pape, Sarah E.; Nicolas, Gael; Laquerriere, Annie; De Deyn, Peter Paul; Wallon, David; Blennow, Kaj; Strydom, Andre; Zetterberg, Henrik; Potier, Marie-Claude 分享 收藏
Phenotype and imaging features associated with APP duplications Grangeon, Lou; Charbonnier, Camille; Zarea, Aline; Rousseau, Stephane; Rovelet-Lecrux, Anne; Bendetowicz, David; Lemaitre, Marion; Malrain, Cecile; Quillard-Muraine, Muriel; Cassinari, Kevin; Maltete, David; Pariente, Jeremie; Moreaud, Olivier; Magnin, Eloi; Cretin, Benjamin; Mackowiak, Marie-Anne; Sillaire, Adeline Rollin; Vercelletto, Martine; Dionet, Elsa; Felician, Olivier; Rod-Olivieri, Pauline; Thomas-Anterion, Catherine; Godeneche, Gaelle; Sauvee, Mathilde; Cartz-Piver, Leslie; Le Ber, Isabelle; Chauvire, Valerie; Jonveaux, Therese; Balageas, Anna-Chloe; Laquerriere, Annie; Duyckaerts, Charles; Vital, Anne; de Paula, Andre Maues; Meyronet, David; Guyant-Marechal, Lucie; Hannequin, Didier; Tournier-Lasserve, Elisabeth; Campion, Dominique; Nicolas, Gael; Wallon, David 分享 收藏
Motor neuron involvement threatens survival in spinocerebellar ataxia type 1 运动神经元参与威胁1型脊髓小脑性共济失调的生存 Coarelli, Giulia; Tchikviladze, Maya; Dodet, Pauline; Arnulf, Isabelle; Charles, Perrine; Tankere, Frederic; Similowski, Thomas; Seilhean, Danielle; Brice, Alexis; Duyckaerts, Charles; Durr, Alexandra 分享 收藏
Somatic copy number variant load in neurons of healthy controls and Alzheimer's disease patients Turan, Zeliha Gozde; Richter, Vincent; Bochmann, Jana; Parvizi, Poorya; Yapar, Etka; Isildak, Ulas; Waterholter, Sarah-Kristin; Leclere-Turbant, Sabrina; Son, Cagdas Devrim; Duyckaerts, Charles; Yet, Idil; Arendt, Thomas; Somel, Mehmet; Ueberham, Uwe 分享 收藏
Rainwater Charitable Foundation criteria for the neuropathologic diagnosis progressive supranuclear palsy Roemer, Shanu F.; Grinberg, Lea T.; Crary, John F.; Seeley, William W.; McKee, Ann C.; Kovacs, Gabor G.; Beach, Thomas G.; Duyckaerts, Charles; Ferrer, Isidro A.; Gelpi, Ellen; Lee, Edward B.; Revesz, Tamas; White, Charles L., III; Yoshida, Mari; Pereira, Felipe L.; Whitney, Kristen; Ghayal, Nikhil B.; Dickson, Dennis W. 分享 收藏
A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics Nicolas, Gael; Sevigny, Myriam; Lecoquierre, Francois; Marguet, Florent; Deschenes, Andreanne; Del Pelaez, Maria Carment; Feuillette, Sebastien; Audebrand, Anais; Lecourtois, Magalie; Rousseau, Stephane; Richard, Anne-Claire; Cassinari, Kevin; Deramecourt, Vincent; Duyckaerts, Charles; Boland, Anne; Deleuze, Jean-Francois; Meyer, Vincent; Clarimon Echavarria, Jordi; Gelpi, Ellen; Akiyama, Haruhiko; Hasegawa, Masato; Kawakami, Ito; Wong, Tsz H.; Van Rooij, Jeroen G. J.; Van Swieten, John C.; Campion, Dominique; Dutchak, Paul A.; Wallon, David; Lavoie-Cardinal, Flavie; Laquerriere, Annie; Rovelet-Lecrux, Anne; Sephton, Chantelle F. 分享 收藏
SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration SLITRK2，C9orf72额颞叶变性发病年龄的X连锁修饰剂 Barbier, Mathieu; Camuzat, Agnes; El Hachimi, Khalid; Guegan, Justine; Rinaldi, Daisy; Lattante, Serena; Houot, Marion; Sanchez-Valle, Raquel; Sabatelli, Mario; Antonell, Anna; Molina-Porcel, Laura; Clot, Fabienne; Couratier, Philippe; van der Ende, Emma; van der Zee, Julie; Manzoni, Claudia; Camu, William; Cazeneuve, Cecile; Sellal, Francois; Didic, Mira; Golfier, Veronique; Pasquier, Florence; Duyckaerts, Charles; Rossi, Giacomina; Bruni, Amalia C.; Alvarez, Victoria; Gomez-Tortosa, Estrella; de Mendonca, Alexandre; Graff, Caroline; Masellis, Mario; Nacmias, Benedetta; Oumoussa, Badreddine Mohand; Jornea, Ludmila; Forlani, Sylvie; Van Deerlin, Viviana; Rohrer, Jonathan D.; Gelpi, Ellen; Rademakers, Rosa; Van Swieten, John; Le Guern, Eric; Van Broeckhoven, Christine; Ferrari, Raffaele; Genin, Emmanuelle; Brice, Alexis; Le Ber, Isabelle 分享 收藏
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (vol 22, pg 1851, 2020) Roux, Thomas; Barbier, Mathieu; Papin, Melanie; Davoine, Claire-Sophie; Sayah, Sabrina; Coarelli, Giulia; Charles, Perrine; Marelli, Cecilia; Parodi, Livia; Tranchant, Christine; Goizet, Cyril; Klebe, Stephan; Lohmann, Ebba; Van Maldergem, Lionel; van Broeckhoven, Christine; Coutelier, Marie; Tesson, Christelle; Stevanin, Giovanni; Duyckaerts, Charles; Brice, Alexis; Durr, Alexandra 分享 收藏
Regulation of PPARα by APP in Alzheimer disease affects the pharmacological modulation of synaptic activity Saez-Orellana, Francisco; Leroy, Thomas; Ribeiro, Floriane; Kreis, Anna; Leroy, Karelle; Lalloyer, Fanny; Bauge, Eric; Staels, Bart; Duyckaerts, Charles; Brion, Jean-Pierre; Gailly, Philippe; Octave, Jean-Noel; Pierrot, Nathalie 分享 收藏
Clinical and neuropathological diversity of tauopathy in MAPT duplication carriers Wallon, David; Boluda, Susana; Rovelet-Lecrux, Anne; Thierry, Manon; Lagarde, Julien; Miguel, Laetitia; Lecourtois, Magalie; Bonnevalle, Antoine; Sarazin, Marie; Bottlaender, Michel; Mula, Mathieu; Marty, Serge; Nakamura, Natsuko; Schramm, Catherine; Sellal, Francois; Jonveaux, Therese; Heitz, Camille; Le Ber, Isabelle; Epelbaum, Stephane; Magnin, Eloi; Zarea, Aline; Rousseau, Stephane; Quenez, Olivier; Hannequin, Didier; Clavaguera, Florence; Campion, Dominique; Duyckaerts, Charles; Nicolas, Gael 分享 收藏
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Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment 小脑共济失调中STUB1变体的临床，神经病理学和遗传特征: 主要认知障碍的常见原因 Roux, Thomas; Barbier, Mathieu; Papin, Melanie; Davoine, Claire-Sophie; Sayah, Sabrina; Coarelli, Giulia; Charles, Perrine; Marelli, Cecilia; Parodi, Livia; Tranchant, Christine; Goizet, Cyril; Klebe, Stephan; Lohmann, Ebba; Van Maldergen, Lionel; van Broeckhoven, Christine; Coutelier, Marie; Tesson, Christelle; Stevanin, Giovanni; Duyckaerts, Charles; Brice, Alexis; Durr, Alexandra 分享 收藏
STochastic Optical Reconstruction Microscopy (STORM) reveals the nanoscale organization of pathological aggregates in human brain Codron, P.; Letournel, F.; Marty, S.; Renaud, L.; Bodin, A.; Duchesne, M.; Verny, C.; Lenaers, G.; Duyckaerts, C.; Julien, J-P; Cassereau, J.; Chevrollier, A. 分享 收藏
Identification of Umbre Orthobunyavirus as a Novel Zoonotic Virus Responsible for Lethal Encephalitis in 2 French Patients with Hypogammaglobulinemia Perot, Philippe; Bielle, Franck; Bigot, Thomas; Foulongne, Vincent; Bollore, Karine; Chretien, Delphine; Gil, Patricia; Gutierrez, Serafin; L'Ambert, Gregory; Mokhtari, Karima; Hellert, Jan; Flamand, Marie; Tamietti, Carole; Coulpier, Muriel; de Verneuil, Anne Huard; Temmam, Sarah; Couderc, Therese; Cunha, Edouard De Sousa; Boluda, Susana; Plu, Isabelle; Delisle, Marie Bernadette; Bonneville, Fabrice; Brassat, David; Fieschi, Claire; Malphettes, Marion; Duyckaerts, Charles; Mathon, Bertrand; Demeret, Sophie; Seilhean, Danielle; Eloit, Marc 分享 收藏
Impairment of Glycolysis-Derived L-Serine Production in Astrocytes Contributes to Cognitive Deficits in Alzheimer's Disease Le Douce, Juliette; Maugard, Marianne; Veran, Julien; Matos, Marco; Jego, Pierrick; Vigneron, Pierre-Antoine; Faivre, Emilie; Toussay, Xavier; Vandenberghe, Michel; Balbastre, Yael; Piquet, Juliette; Guiot, Elvire; Tran, Nguyet Thuy; Taverna, Myriam; Marinesco, Stephane; Koyanagi, Ayumi; Furuya, Shigeki; Gaudin-Guerif, Mylene; Goutal, Sebastien; Ghettas, Aurelie; Pruvost, Alain; Bemelmans, Alexis-Pierre; Gaillard, Marie-Claude; Cambon, Karine; Stimmer, Lev; Sazdovitch, Veronique; Duyckaerts, Charles; Knott, Graham; Herard, Anne-Sophie; Delzescaux, Thierry; Hantraye, Philippe; Brouillet, Emmanuel; Cauli, Bruno; Oliet, Stephane H. R.; Panatier, Aude; Bonvento, Gilles 分享 收藏
Picalm reduction exacerbates tau pathology in a murine tauopathy model Picalm减少加剧了鼠tau病模型中的tau病理 Ando, Kunie; De Decker, Robert; Vergara, Cristina; Yilmaz, Zehra; Mansour, Salwa; Suain, Valerie; Sleegers, Kristel; de Fisenne, Marie-Ange; Houben, Sarah; Potier, Marie-Claude; Duyckaerts, Charles; Watanabe, Toshio; Buee, Luc; Leroy, Karelle; Brion, Jean-Pierre 分享 收藏
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms Huin, Vincent; Barbier, Mathieu; Bottani, Armand; Lobrinus, Johannes Alexander; Clot, Fabienne; Lamari, Foudil; Chat, Laureen; Rucheton, Benoit; Fluchere, Frederique; Auvin, Stephane; Myers, Peter; Gelot, Antoinette; Camuzat, Agnes; Caillaud, Catherine; Jornea, Ludmila; Forlani, Sylvie; Saracino, Dario; Duyckaerts, Charles; Brice, Alexis; Durr, Alexandra; Le Ber, Isabelle 分享 收藏
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Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7 Coarelli, Giulia; Schule, Rebecca; van de Warrenburg, Bart P. C.; De Jonghe, Peter; Ewenczyk, Claire; Martinuzzi, Andrea; Synofzik, Matthis; Hamer, Elisa G.; Baets, Jonathan; Anheim, Mathieu; Schoels, Ludger; Deconinck, Tine; Masrori, Pegah; Fontaine, Bertrand; Klockgether, Thomas; D'Angelo, Maria Grazia; Monin, Marie-Lorraine; De Bleecker, Jan; Migeotte, Isabelle; Charles, Perrine; Bassi, Maria Teresa; Klopstock, Thomas; Mochel, Fanny; Ollagnon-Roman, Elisabeth; D'Hooghe, Marc; Kamm, Christoph; Kurzwelly, Delia; Papin, Melanie; Davoine, Claire-Sophie; Banneau, Guillaume; du Montcel, Sophie Tezenas; Seilhean, Danielle; Brice, Alexis; Duyckaerts, Charles; Stevanin, Giovanni; Durr, Alexandra 分享 收藏
Increased prevalence of granulovacuolar degeneration in C9orf72 mutation Riku, Yuichi; Duyckaerts, Charles; Boluda, Susana; Plu, Isabelle; Le Ber, Isabelle; Millecamps, Stephanie; Salachas, Francois; Yoshida, Mari; Ando, Takashi; Katsuno, Masahisa; Sobue, Gen; Seilhean, Danielle; Letournel, F.; Martin-Negrier, M-L; Chapon, F.; Godfraind, C.; Maurage, C-A; Deramecourt, V; Meyronet, D.; Streichenberger, N.; de Paula, Maues A.; Rigau, V; Vandenbos-Burel, F.; Milin, S.; Chiforeanu, D. C.; Laquerriere, A.; Lannes, B. 分享 收藏
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