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

A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions

GOLGA8A基因的重复扩增是伴有泛素阳性包涵体的非典型额颞叶变性的主要风险因素。

De Coster, Wouter; Van den Broeck, Marleen; Baker, Matt; Ghayal, Nikhil B; Wynants, Sarah; Batzler, Anthony; Pottier, Cyril; Alidadiani, Sara; Küçükali, Fahri; Jenkins, Gregory D; Policarpo, Rafaela; van Blitterswijk, Marka; DeJesus-Hernandez, Mariely; Soto-Beasley, Alexandra I; Faura, Júlia; Coopman, Elise; Hutten, Saskia; Mol, Merel O; Wallon, David; Sieben, Anne; Finger, Elizabeth C; Murray, Melissa E; Forrest, Shelley L; Tartaglia, Maria C; Troakes, Claire; van Rooij, Jeroen G J; Nguyen, Aivi T; Reichard, R Ross; Woodman, Natalie L; Nana, Alissa L; Weintraub, Sandra; Gefen, Tamar; De Vil, Bart; Bodi, Istvan; Lopez, Oscar L; Boluda, Susana; Belliard, Serge; Lebert, Florence; Marguet, Florent; Mao, Qinwen; Mesulam, Marsel M; Boxer, Adam L; Vandenbulcke, Mathieu; Suh, EunRan; Schaeverbeke, Jolien; Lambert, Jean-Charles; Scholz, Sonja W; Dalgard, Clifton L; Traynor, Bryan J; Gibbs, Raphael J; Schellenberg, Gerard D; Dormann, Dorothee; Joris, Geert; De Pooter, Tim; De Rijk, Peter; D'Hert, Svenn; Van Dongen, Jasper; van der Zee, Julie; Strazisar, Mojca; Gearing, Marla; Kukar, Thomas; Flanagan, Margaret; Engelborghs, Sebastiaan; Ghetti, Bernardino; Newell, Kathy L; King, Andrew; Roeber, Sigrun; Rosen, Howard J; Spina, Salvatore; Cras, Patrick; Ertekin-Taner, Nilüfer; Wszolek, Zbigniew K; Uitti, Ryan J; Cheshire, William P; Singer, Wolfgang; Herms, Jochen; Josephs, Keith A; Whitwell, Jennifer L; Petersen, Ronald C; Pasquier, Florence; Nicolas, Gaël; Castellani, Rudolph; Glass, Jonathan; Miller, Bruce L; Kovacs, Gabor G; Rissman, Robert A; Hiniker, Annie; Deramecourt, Vincent; Ang, Lee-Cyn; Lee-Way, Jin; Van Deerlin, Vivianna M; Dugger, Brittany N; Thal, Dietmar R; Grinberg, Lea T; Cruchaga, Carlos; Arzberger, Thomas; Munoz, David G; Keith, Julia; Zinman, Lorne; Rogaeva, Ekaterina; Lee, Edward B; Haggarty, Stephen J; Ansorge, Olaf; Husain, Masud; Halliday, Glenda M; Al-Sarraj, Safa; Ross, Owen A; Sleegers, Kristel; Vandenberghe, Rik; Boeve, Bradley F; Graff-Radford, Neill R; Kofler, Julia; White, Charles L 3rd; Lashley, Tammaryn; Neumann, Manuela; Biernacka, Joanna M; Seeley, William W; Seelaar, Harro; van Swieten, John C; Rohrer, Jonathan D; Dickson, Dennis W; Mackenzie, Ian R A; Rademakers, Rosa

Genetic analysis of neurodegenerative diseases

神经退行性疾病的基因分析

Grassano, Maurizio; Schindler, Alice B; Traynor, Bryan J; Scholz, Sonja W

Herpesvirus genome integration in whole-genome sequences of dementia and control cohorts

疱疹病毒基因组整合到痴呆症患者和对照组的全基因组序列中

Piotrowski, Stacey L; Allnutt, Mary Alice; Johnson, Kory; Tanaka, Toshiko; Ferrucci, Luigi; Morris, Huw; Hardy, John; Ryten, Mina; Logroscino, Giancarlo; Troncoso, Juan; Beach, Thomas G; Serrano, Geidy E; Cruchaga, Carlos; Dickson, Dennis W; Ross, Owen A; Chiò, Adriano; Houlden, Henry; Dalgard, Clifton L; Ding, Jinhui; Gibbs, J Raphael; Traynor, Bryan J; Scholz, Sonja W; Jacobson, Steven

Association of mitochondrial genetic background with pS65-Ub in Lewy body disease

线粒体遗传背景与路易体病中 pS65-Ub 的关联

Tran, Ngan Le Kim; Hou, Xu; Heckman, Michael G; Fiesel, Fabienne C; Koga, Shunsuke; Watkins, Molly M; Sledge, Hanna J; Gibbs, J Raphael; Traynor, Bryan J; Dalgard, Clifton L; Scholz, Sonja W; Dickson, Dennis W; Springer, Wolfdieter; Ross, Owen A

Author Correction: The genetic architecture of Parkinson's disease on the Island of Crete

作者更正:克里特岛帕金森病的遗传结构

Boura, Iro; Sait, Shaimaa; Marinakis, Nikolaos M; Arvind, Kumar; Chia, Ruth; Ray, Anindita; Vatsellas, Giannis; Loupis, Theodoros; Pavlaki, Vasiliki; Makrythanasis, Periklis; Mitsias, Panayiotis; Xiromerisiou, Georgia; Scholz, Sonja W; Spanaki, Cleanthe

Scalable and comprehensive mosaic variant calling using DRAGEN

使用 DRAGEN 进行可扩展且全面的嵌合变异检测

Behera, Sairam; Rossi, Massimiliano; Wang, Yina; Izydorczyk, Michal B; Tran, Duke; Dalgard, Clifton L; Kalef-Ezra, Ester; Kottapalli, Kavya; Mehta, Heer; Parnaby, Gavin; Risse-Adams, Oona Shigeno; Scholz, Sonja W; Shen, Helen; Nelson, Theodore M; Visvanath, Arun; Zheng, Xinchang; Doddapaneni, Harsha; Garcia, Thomas; Mason, Christopher E; Proukakis, Christos; Han, James; Mehio, Rami; Catreux, Severine; Sedlazeck, Fritz J

Pathology and genetics in a global cohort of Parkinsonian Disorders

全球帕金森病患者队列的病理学和遗传学研究

Wu, Lesley Y; du Toit, Tessa; Georgiades, Tatiana; Stafford, Eleanor J; Levine, Kristin; Fang, Zih-Hua; Jasaityte, Simona; Martinez, Ana-Luisa Gil; Cullinane, Patrick; De Pablo Fernandez, Eduardo; Blauwendraat, Cornelis; Singleton, Andrew B; Scholz, Sonja W; Traynor, Bryan J; Wood, Nicholas; Hardy, John; Chinnery, Patrick; Houlden, Henry; Cain, Richard; Troakes, Claire; Chelban, Viorica; Serrano, Geidy E; Gveric, Djordje; McLean, Catriona; Love, Seth; King, Andrew; Robinson, Andrew C; Roncaroli, Federico; Shepherd, Claire; Halliday, Glenda; Parkkinen, Laura; Morris, Christopher M; Smith, Colin; Beach, Thomas G; Gentleman, Steve; Warner, Thomas T; Lashley, Tammaryn; Jaunmuktane, Zane; Real, Raquel; Morris, Huw R

A plasma proteomics-based candidate biomarker panel predictive of amyotrophic lateral sclerosis

基于血浆蛋白质组学的肌萎缩侧索硬化症预测候选生物标志物组合

Chia, Ruth; Moaddel, Ruin; Kwan, Justin Y; Rasheed, Memoona; Ruffo, Paola; Landeck, Natalie; Reho, Paolo; Vasta, Rosario; Calvo, Andrea; Moglia, Cristina; Canosa, Antonio; Manera, Umberto; Snyder, Allison; Saez-Atienzar, Sara; Grassano, Maurizio; Brunetti, Maura; Casale, Federico; Ray, Anindita; Arvind, Kumar; Comertpay, Betul; Zhu, Min; Gibbs, J Raphael; Alba, Camille; Dawson, Ted M; Rosenthal, Liana S; Hall, Anna J; Pantelyat, Alexander Y; Narendra, Derek P; Ehrlich, Debra J; Walker, Keenan A; Kosa, Peter; Bielekova, Bibiana; Egan, Josephine M; Candia, Julián; Tanaka, Toshiko; Ferrucci, Luigi; Dalgard, Clifton L; Scholz, Sonja W; Chiò, Adriano; Traynor, Bryan J

CREB3 gain of function variants protect against ALS.

CREB3 功能获得性变异可预防 ALS

Megat Salim, Marques Christine, Hernán-Godoy Marina, Sellier Chantal, Stuart-Lopez Geoffrey, Dirrig-Grosch Sylvie, Gorin Charlotte, Brunet Aurore, Fischer Mathieu, Keime Céline, Kessler Pascal, Mendoza-Parra Marco Antonio, Zwamborn Ramona A J, Veldink Jan H, Scholz Sonja W, Ferrucci Luigi, Ludolph Albert, Traynor Bryan, Chio Adriano, Dupuis Luc, Rouaux Caroline

Leveraging multiomic approaches to elucidate mechanisms of heterogeneity in Alzheimer's disease: Neuropsychiatric symptoms, co-pathologies, and sex differences

利用多组学方法阐明阿尔茨海默病异质性机制:神经精神症状、共病及性别差异

Shwab, E Keats; Pathak, Gita A; Harvey, Joshua; Belloy, Michael E; Fischer, Corinne E; Lutz, Michael W; Scholz, Sonja W; Cook, Noah; Reid, Danielle M; Chen, Jingchun; Guan, Dylan X; Oliveira, Fabricio; Sinclair, Lindsey I; Imo, Uzochukwu; Creese, Byron; Chiba-Falek, Ornit