日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

High-Level Alzheimer Disease Neuropathological Change Following Iatrogenic Exposure

医源性暴露后阿尔茨海默病高水平神经病理学改变

Banerjee, Gargi; Mok, Tze How; Hyare, Harpreet; Cousins, Oliver; Jaunmuktane, Zane; Mead, Simon; Collinge, John

Modification of early behavioural, physiological and neuropathological endpoints by syntaxin-6 knockout in a humanised P301S transgenic model of tauopathy

在人源化P301S转基因tau蛋白病模型中,通过敲除突触蛋白-6来改变早期行为、生理和神经病理学终点。

Hill, Elizabeth; Linehan, Jacqueline; Farmer, Michael; Jakubcova, Tatiana; Hamdan, Shyma; Tomlinson, Andrew; Purro, Silvia; Argentina, Fabio; Jones, Emma; Kaye, Nicholas; Fitzhugh, Craig; de Silva, Rohan; Brandner, Sebastian; Collinge, John; Cunningham, Thomas J; Mead, Simon

Correction: Intracellular trafficking SNARE protein, syntaxin-6, modifies prion cellular phenotypes and risk of disease development in vivo

更正:细胞内转运SNARE蛋白syntaxin-6可改变朊病毒的细胞表型并影响体内疾病发生的风险。

Hill, Elizabeth; Patel, Mitali M; Ribes, Juan M; Linehan, Jacqueline; Zhang, Fuquan; Jakubcova, Tatiana; Hamdan, Shyma; Tomlinson, Andrew; Ercolani, Tiziana; Schmidt, Christian; Ahmed, Parvin; Thirlway, George; Argentina, Fabio; Marinho, Aline T; Jones, Emma; Kaye, Nicholas; Fitzhugh, Craig; Jackson, Graham S; Brandner, Sebastian; Klöhn, Peter-Christian; Collinge, John; Cunningham, Thomas J; Mead, Simon

Non-microglial downregulation of PLCG2 impairs synaptic function and elicits Alzheimer disease-related hallmarks.

非小胶质细胞中 PLCG2 的下调会损害突触功能,并引发阿尔茨海默病相关的特征。

Coulon Audrey, Rabiller Florian, Takalo Mari, Roy Avishek, Pelletier Alexandre, Martiskainen Henna, Siedlecki-Wullich Dolores, Lannette-Weimann Nina, Majerníková Nad'a, Grenon Arthur, Gao Vance, Erhardt Anaël, Pernodet Anne, Lemaire Morgane, Limoge Floriane, Walle Pauline, Mendes Tiago, Guyot Karine, Lemeu Célia, Carvalho Lukas-Iohan, de Farias Ana Raquel Melo, Hulsman Marc, Najdek Chloé, Freire-Regatillo Alejandra, Saha Orthis, Amouyel Philippe, Charbonnier Camille, Deleuze Jean-François, Dols-Icardo Orio, Jeskanen Heli, Willman Roosa-Maria, Kuulasmaa Teemu, Kurki Mitja, Hardy John, Heikkinen Sami, Holstege Henne, Mäkinen Petra, Nicolas Gaël, Mead Simon, Wagner Michael, Ramirez Alfredo, Rauramaa Tuomas, Palotie Aarno, Sims Rebecca, Soininen Hilkka, van Swieten John, Williams Julie, Bellenguez Céline, Gelle Carla, Lambert Erwan, Costa Marcos R, Tcw Julia, Glaab Enrico, Ayral Anne-Marie, Demiautte Florie, Grenier-Boley Benjamin, Muntaner Manon, Eberlé Delphine, Deforges Séverine, Haas Joel, Kilinc Devrim, Mulle Christophe, Chapuis Julien, Hiltunen Mikko, Dumont Julie, Lambert Jean-Charles

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease

疾病突变的结构域定位揭示了阿尔茨海默病中的致病性SORL1变异

Andersen, Olav M; de Waal, Matthijs W J; Monti, Giulia; Tesi, Niccolo; Jensen, Anne Mette G; de Geus, Christa; van Spaendonk, Rosalina; Vogel, Maartje; Ahmad, Shahzad; Amin, Najaf; Amouyel, Philippe; Beecham, Gary W; Bellenguez, Céline; Berr, Claudine; Bis, Joshua C; Boland, Anne; Bossù, Paola; Bouwman, Femke; Bras, Jose; Charbonnier, Camille; Clarimon, Jordi; Cruchaga, Carlos; Daniele, Antonio; Dartigues, Jean-François; Debette, Stéphanie; Deleuze, Jean-François; Denning, Nicola; DeStefano, Anita L; Dols-Icardo, Oriol; van Duijn, Cornelia M; Farrer, Lindsay A; Fernández, Maria Victoria; van der Flier, Wiesje M; Fox, Nick C; Galimberti, Daniela; Genin, Emmanuelle; Gille, Johan J P; Grenier-Boley, Benjamin; Grozeva, Detelina; Guen, Yann Le; Guerreiro, Rita; Haines, Jonathan L; Holmes, Clive; Hummerich, Holger; Arfan Ikram, M; Kamran Ikram, M; Kawalia, Amit; Kraaij, Robert; Lambert, Jean-Charles; Lathrop, Marc; Lemstra, Afina W; Lleó, Alberto; Myers, Richard M; Mannens, Marcel M A M; Marshall, Rachel; Martin, Eden R; Masullo, Carlo; Mayeux, Richard; Mead, Simon; Mecocci, Patrizia; Meggy, Alun; Mol, Merel O; Nacmias, Benedetta; Naj, Adam C; Napolioni, Valerio; Nicholas Cochran, J; Nicolas, Gaël; Pasquier, Florence; Pastor, Pau; Pericak-Vance, Margaret A; Pijnenburg, Yolande A L; Piras, Fabrizio; Quenez, Olivier; Ramirez, Alfredo; Raybould, Rachel; Redon, Richard; Reinders, Marcel J T; Richard, Anne-Claire; Riedel-Heller, Steffi G; Rivadeneira, Fernando; van Rooij, Jeroen G J; Rousseau, Stéphane; Ryan, Natalie S; Sanchez-Juan, Pascual; Schellenberg, Gerard D; Scheltens, Philip; Schott, Jonathan M; Seshadri, Sudha; Sie, Daoud; Sims, Rebecca; Sistermans, Erik A; Sorbi, Sandro; van Swieten, John C; Tijms, Betty; Uitterlinden, André G; Visser, Pieter Jelle; Wagner, Michael; Wallon, David; Wang, Li-San; Williams, Julie; Yokoyama, Jennifer S; Zarea, Aline; van der Lee, Sven J; Olsen, Johan G; Hulsman, Marc; Holstege, Henne

Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing

通过全基因组测序解析FTLD-TDP病理亚型的不同遗传风险因素

Pottier, Cyril; Küçükali, Fahri; Baker, Matt; Batzler, Anthony; Jenkins, Gregory D; van Blitterswijk, Marka; Vicente, Cristina T; De Coster, Wouter; Wynants, Sarah; Van de Walle, Pieter; Ross, Owen A; Murray, Melissa E; Faura, Júlia; Haggarty, Stephen J; van Rooij, Jeroen Gj; Mol, Merel O; Hsiung, Ging-Yuek R; Graff, Caroline; Öijerstedt, Linn; Neumann, Manuela; Asmann, Yan; McDonnell, Shannon K; Baheti, Saurabh; Josephs, Keith A; Whitwell, Jennifer L; Bieniek, Kevin F; Forsberg, Leah; Heuer, Hilary; Lago, Argentina Lario; Geier, Ethan G; Yokoyama, Jennifer S; Oddi, Alexis P; Flanagan, Margaret; Mao, Qinwen; Hodges, John R; Kwok, John B; Domoto-Reilly, Kimiko; Synofzik, Matthis; Wilke, Carlo; Onyike, Chiadi; Dickerson, Bradford C; Evers, Bret M; Dugger, Brittany N; Munoz, David G; Keith, Julia; Zinman, Lorne; Rogaeva, Ekaterina; Suh, EunRan; Gefen, Tamar; Geula, Changiz; Weintraub, Sandra; Diehl-Schmid, Janine; Farlow, Martin R; Edbauer, Dieter; Woodruff, Bryan K; Caselli, Richard J; Donker Kaat, Laura L; Huey, Edward D; Reiman, Eric M; Mead, Simon; King, Andrew; Roeber, Sigrun; Nana, Alissa L; Ertekin-Taner, Nilufer; Knopman, David S; Petersen, Ronald C; Petrucelli, Leonard; Uitti, Ryan J; Wszolek, Zbigniew K; Ramos, Eliana Marisa; Grinberg, Lea T; Tempini, Maria Luisa Gorno; Rosen, Howard J; Spina, Salvatore; Piguet, Olivier; Grossman, Murray; Trojanowski, John Q; Keene, C Dirk; Jin, Lee-Way; Prudlo, Johannes; Geschwind, Daniel H; Rissman, Robert A; Cruchaga, Carlos; Ghetti, Bernardino; Halliday, Glenda M; Beach, Thomas G; Serrano, Geidy E; Arzberger, Thomas; Herms, Jochen; Boxer, Adam L; Honig, Lawrence S; Vonsattel, Jean P; Lopez, Oscar L; Kofler, Julia; White, Charles L 3rd; Gearing, Marla; Glass, Jonathan; Rohrer, Jonathan D; Irwin, David J; Lee, Edward B; Van Deerlin, Vivianna; Castellani, Rudolph; Mesulam, Marsel M; Tartaglia, Maria C; Finger, Elizabeth C; Troakes, Claire; Al-Sarraj, Safa; Dalgard, Clifton L; Miller, Bruce L; Seelaar, Harro; Graff-Radford, Neill R; Boeve, Bradley F; Mackenzie, Ian Ra; van Swieten, John C; Seeley, William W; Sleegers, Kristel; Dickson, Dennis W; Biernacka, Joanna M; Rademakers, Rosa

Estimating future variant Creutzfeldt-Jakob disease cases in the UK: a cohort-based probabilistic model

预测英国未来变异型克雅氏病病例数:基于队列的概率模型

Roberts, Barnaby; Riley, James; Evans, Thomas J; Knight, Richard; Manson, Jean; Medley, Graham; Upadhyay, Manisha; Sinka, Katy; Mead, Simon

Multiomic analyses direct hypotheses for Creutzfeldt-Jakob disease risk genes

多组学分析为克雅氏病风险基因的假设提供直接依据

Küçükali, Fahri; Hill, Elizabeth; Watzeels, Tijs; Hummerich, Holger; Campbell, Tracy; Darwent, Lee; Collins, Steven; Stehmann, Christiane; Kovacs, Gabor G; Geschwind, Michael D; Frontzek, Karl; Budka, Herbert; Gelpi, Ellen; Aguzzi, Adriano; van der Lee, Sven J; van Duijn, Cornelia M; Liberski, Pawel P; Calero, Miguel; Sanchez-Juan, Pascual; Bouaziz-Amar, Elodie; Laplanche, Jean-Louis; Haïk, Stéphane; Brandel, Jean-Phillipe; Mammana, Angela; Capellari, Sabina; Poleggi, Anna; Ladogana, Anna; Tiple, Dorina; Zafar, Saima; Booth, Stephanie; Jansen, Gerard H; Areškevičiūtė, Aušrinė; Lund, Eva Løbner; Glisic, Katie; Parchi, Piero; Hermann, Peter; Zerr, Inga; Safar, Jiri; Gambetti, Pierluigi; Appleby, Brian S; Collinge, John; Sleegers, Kristel; Mead, Simon

Intracellular trafficking SNARE protein, syntaxin-6, modifies prion cellular phenotypes and risk of disease development in vivo

细胞内转运SNARE蛋白syntaxin-6可改变朊病毒的细胞表型,并影响体内疾病发生的风险。

Hill, Elizabeth; Patel, Mitali M; Ribes, Juan M; Linehan, Jacqueline; Zhang, Fuquan; Jakubcova, Tatiana; Hamdan, Shyma; Tomlinson, Andrew; Ercolani, Tiziana; Schmidt, Christian; Ahmed, Parvin; Thirlway, George; Argentina, Fabio; Marinho, Aline T; Jones, Emma; Kaye, Nicholas; Fitzhugh, Craig; Jackson, Graham S; Brandner, Sebastian; Klöhn, Peter-Christian; Collinge, John; Cunningham, Thomas J; Mead, Simon

Huntington's disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration

亨廷顿病表型模拟综合征再探:临床比较与新一代测序探索

Koriath, Carolin Anna Maria; Guntoro, Fernando; Norsworthy, Penelope; Dolzhenko, Egor; Eberle, Michael; Hensman Moss, Davina J; Flower, Michael; Hummerich, Holger; Rosser, Anne Elizabeth; Tabrizi, Sarah J; Mead, Simon; Wild, Edward J