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

Variant Prioritization by Pedigree-Based Haplotyping

基于系谱单倍型分析的变异优先级排序

Nafikov, Rafael A; Sohi, Harkirat K; Nato, Alejandro Q Jr; Horimoto, Andrea R; Day, Tyler R C; Bird, Thomas D; DeStefano, Anita L; Blue, Elizabeth E; Wijsman, Ellen M

Neuropathological correlates of vulnerability and resilience in the cerebellum in Alzheimer's disease

阿尔茨海默病小脑脆弱性和韧性的神经病理学相关性

Samstag, Colby L; Chapman, Nicola H; Gibbons, Laura E; Geller, Julianne; Loeb, Nicholas; Dharap, Siddhant; Yagi, Mayumi; Cook, David G; Pagulayan, Kathleen F; Crane, Paul K; Larson, Eric B; Wijsman, Ellen M; Latimer, Caitlin S; Bird, Thomas D; Keene, C Dirk; Carlson, Erik S

Tau filaments with the Alzheimer fold in human MAPT mutants V337M and R406W

人类 MAPT 突变体 V337M 和 R406W 中具有阿尔茨海默病折叠的 Tau 丝

Qi, Chao; Lövestam, Sofia; Murzin, Alexey G; Peak-Chew, Sew; Franco, Catarina; Bogdani, Marika; Latimer, Caitlin; Murrell, Jill R; Cullinane, Patrick W; Jaunmuktane, Zane; Bird, Thomas D; Ghetti, Bernardino; Scheres, Sjors H W; Goedert, Michel

Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies known and novel cross-population and ancestry-specific associations as novel risk loci for Alzheimer's disease

一项包含56241名个体的多族裔全基因组荟萃分析,发现了已知的和新的跨人群及族裔特异性关联,这些关联被认为是阿尔茨海默病的新风险位点。

Rajabli, Farid; Benchek, Penelope; Tosto, Giuseppe; Kushch, Nicholas; Sha, Jin; Bazemore, Katrina; Zhu, Congcong; Lee, Wan-Ping; Haut, Jacob; Hamilton-Nelson, Kara L; Wheeler, Nicholas R; Zhao, Yi; Farrell, John J; Grunin, Michelle A; Leung, Yuk Yee; Kuksa, Pavel P; Li, Donghe; da Fonseca, Eder Lucio; Mez, Jesse B; Palmer, Ellen L; Pillai, Jagan; Sherva, Richard M; Song, Yeunjoo E; Zhang, Xiaoling; Ikeuchi, Takeshi; Iqbal, Taha; Pathak, Omkar; Valladares, Otto; Reyes-Dumeyer, Dolly; Kuzma, Amanda B; Abner, Erin; Adams, Larry D; Adams, Perrie M; Aguirre, Alyssa; Albert, Marilyn S; Albin, Roger L; Allen, Mariet; Alvarez, Lisa; Apostolova, Liana G; Arnold, Steven E; Asthana, Sanjay; Atwood, Craig S; Auerbach, Sanford; Ayres, Gayle; Baldwin, Clinton T; Barber, Robert C; Barnes, Lisa L; Barral, Sandra; Beach, Thomas G; Becker, James T; Beecham, Gary W; Beekly, Duane; Benitez, Bruno A; Bennett, David; Bertelson, John; Bird, Thomas D; Blacker, Deborah; Boeve, Bradley F; Bowen, James D; Boxer, Adam; Brewer, James; Burke, James R; Burns, Jeffrey M; Buxbaum, Joseph D; Cairns, Nigel J; Cantwell, Laura B; Cao, Chuanhai; Carlson, Christopher S; Carlsson, Cynthia M; Carney, Regina M; Carrasquillo, Minerva M; Chasse, Scott; Chesselet, Marie-Francoise; Chin, Nathaniel A; Chui, Helena C; Chung, Jaeyoon; Craft, Suzanne; Crane, Paul K; Cribbs, David H; Crocco, Elizabeth A; Cruchaga, Carlos; Cuccaro, Michael L; Cullum, Munro; Darby, Eveleen; Davis, Barbara; De Jager, Philip L; DeCarli, Charles; DeToledo, John; Dick, Malcolm; Dickson, Dennis W; Dombroski, Beth A; Doody, Rachelle S; Duara, Ranjan; Ertekin-Taner, NIlüfer; Evans, Denis A; Faber, Kelley M; Fairchild, Thomas J; Fallon, Kenneth B; Fardo, David W; Farlow, Martin R; Fernandez-Hernandez, Victoria; Ferris, Steven; Friedland, Robert P; Foroud, Tatiana M; Frosch, Matthew P; Fulton-Howard, Brian; Galasko, Douglas R; Gamboa, Adriana; Gearing, Marla; Geschwind, Daniel H; Ghetti, Bernardino; Gilbert, John R; Go, Rodney C P; Goate, Alison M; Grabowski, Thomas J; Graff-Radford, Neill R; Green, Robert C; Growdon, John H; Hakonarson, Hakon; Hall, James; Hamilton, Ronald L; Harari, Oscar; Hardy, John; Harrell, Lindy E; Head, Elizabeth; Henderson, Victor W; Hernandez, Michelle; Hohman, Timothy; Honig, Lawrence S; Huebinger, Ryan M; Huentelman, Matthew J; Hulette, Christine M; Hyman, Bradley T; Hynan, Linda S; Ibanez, Laura; Jarvik, Gail P; Jayadev, Suman; Jin, Lee-Way; Johnson, Kim; Johnson, Leigh; Kamboh, M Ilyas; Karydas, Anna M; Katz, Mindy J; Kauwe, John S; Kaye, Jeffrey A; Keene, C Dirk; Khaleeq, Aisha; Kikuchi, Masataka; Kim, Ronald; Knebl, Janice; Kowall, Neil W; Kramer, Joel H; Kukull, Walter A; LaFerla, Frank M; Lah, James J; Larson, Eric B; Lerner, Alan; Leverenz, James B; Levey, Allan I; Lieberman, Andrew P; Lipton, Richard B; Logue, Mark; Lopez, Oscar L; Lunetta, Kathryn L; Lyketsos, Constantine G; Mains, Douglas; Margaret, Flanagan E; Marson, Daniel C; Martin, Eden Rr; Martiniuk, Frank; Mash, Deborah C; Masliah, Eliezer; Massman, Paul; Masurkar, Arjun; McCormick, Wayne C; McCurry, Susan M; McDavid, Andrew N; McDonough, Stefan; McKee, Ann C; Mesulam, Marsel; Miller, Bruce L; Miller, Carol A; Miller, Joshua W; Montine, Thomas J; Monuki, Edwin S; Morris, John C; Mukherjee, Shubhabrata; Myers, Amanda J; Nguyen, Trung; Obisesan, Thomas; O'Bryant, Sid; Olichney, John M; Ory, Marcia; Palmer, Raymond; Parisi, Joseph E; Paulson, Henry L; Pavlik, Valory; Paydarfar, David; Perez, Victoria; Peskind, Elaine; Petersen, Ronald C; Petrovitch, Helen; Pierce, Aimee; Polk, Marsha; Poon, Wayne W; Potter, Huntington; Qu, Liming; Quiceno, Mary; Quinn, Joseph F; Raj, Ashok; Raskind, Murray; Reiman, Eric M; Reisberg, Barry; Reisch, Joan S; Ringman, John M; Roberson, Erik D; Rodriguear, Monica; Rogaeva, Ekaterina; Rosen, Howard J; Rosenberg, Roger N; Royall, Donald R; Sabbagh, Marwan; Sadovnick, A Dessa; Sager, Mark A; Sano, Mary; Saykin, Andrew J; Schneider, Julie A; Schneider, Lon S; Seeley, William W; Slifer, Susan H; Small, Scott; Smith, Amanda G; Smith, Janet P; Sonnen, Joshua A; Spina, Salvatore; George-Hyslop, Peter St; Starks, Takiyah D; Stern, Robert A; Stevens, Alan B; Strittmatter, Stephen M; Sultzer, David; Swerdlow, Russell H; Tanzi, Rudolph E; Tilson, Jeffrey L; Trojanowski, John Q; Troncoso, Juan C; Tsolaki, Magda; Tsuang, Debby W; Van Deerlin, Vivianna M; van Eldik, Linda J; Vance, Jeffery M; Vardarajan, Badri N; Vassar, Robert; Vinters, Harry V; Vonsattel, Jean-Paul; Weintraub, Sandra; Welsh-Bohmer, Kathleen A; Whitehead, Patrice L; Wijsman, Ellen M; Wilhelmsen, Kirk C; Williams, Benjamin; Williamson, Jennifer; Wilms, Henrik; Wingo, Thomas S; Wisniewski, Thomas; Woltjer, Randall L; Woon, Martin; Wright, Clinton B; Wu, Chuang-Kuo; Younkin, Steven G; Yu, Chang-En; Yu, Lei; Zhu, Xiongwei; Kunkle, Brian W; Bush, William S; Miyashita, Akinori; Byrd, Goldie S; Wang, Li-San; Farrer, Lindsay A; Haines, Jonathan L; Mayeux, Richard; Pericak-Vance, Margaret A; Schellenberg, Gerard D; Jun, Gyungah R; Reitz, Christiane; Naj, Adam C

Down syndrome and a presenilin 2 variant: dual genetic risk of Alzheimer's disease

唐氏综合征和早老素2变异体:阿尔茨海默病的双重遗传风险

Ogg, Jordan; Postupna, Nadia; Gibbons, Laura E; Ariza, Jeanelle; Xiao, Ming; Fonseca, Luciana M; Jayadev, Suman; Keene, C Dirk; Bird, Thomas D; Latimer, Caitlin S

Improving the Clinical Diagnostic Criteria for Genetically Confirmed Adult-Onset Huntington Disease: Considering Nonmotor Presentations

改进基因确诊成人发病型亨廷顿病的临床诊断标准:考虑非运动症状

Considine, Ciaran M; Eddy, Clare M; Frank, Samuel A; Kostyk, Sandra K; Oosterloo, Mayke; Killoran, Annie; Furr Stimming, Erin; Dose, Matthias; Cruickshank, Travis; Bird, Thomas D; Vetter, Louise; Arnesen, Astri; Valvano, James; Lange, Herwig W; Claassen, Daniel O

Asymmetric brain atrophy in Huntington's disease: A postmortem MRI study

亨廷顿病患者的脑萎缩不对称:一项尸检MRI研究

Lila, Eardi; Hunt, David; Child, Daniel D; Latimer, Caitlin; Le, Bianca; Davis, Marie; Jayadev, Suman; Bird, Thomas D; Shojaie, Ali; Mac Donald, Christine L

Presence of Alzheimer's disease variants in circular RNA of PSEN1 and PSEN2

PSEN1 和 PSEN2 环状 RNA 中存在阿尔茨海默病变异体

Johnson, Ian P; Peterson, Tia M; Gudsnuk, Kathryn; Keene, C Dirk; Bird, Thomas D; Jayadev, Suman; Valdmanis, Paul N; Course, Meredith M

Hereditary spastic paraplegia with thin corpus callosum and SPG11 mutation: A neuropathological evaluation.

胼胝体变薄伴 SPG11 基因突变的遗传性痉挛性截瘫:神经病理学评估

Scherpelz Kathryn P, Yoda Rebecca A, Jayadev Suman, Davis Marie Y, Hincks Joshua C, Liachko Nicole F, Bragg Robert M, Cochoit Alexa, MacDonald Christine L, Keene C Dirk, Bird Thomas D, Latimer Caitlin S

Comparison of tau spread in people with Down syndrome versus autosomal-dominant Alzheimer's disease: a cross-sectional study

唐氏综合征患者与常染色体显性遗传性阿尔茨海默病患者tau蛋白扩散情况的比较:一项横断面研究

Wisch, Julie K; McKay, Nicole S; Boerwinkle, Anna H; Kennedy, James; Flores, Shaney; Handen, Benjamin L; Christian, Bradley T; Head, Elizabeth; Mapstone, Mark; Rafii, Michael S; O'Bryant, Sid E; Price, Julie C; Laymon, Charles M; Krinsky-McHale, Sharon J; Lai, Florence; Rosas, H Diana; Hartley, Sigan L; Zaman, Shahid; Lott, Ira T; Tudorascu, Dana; Zammit, Matthew; Brickman, Adam M; Lee, Joseph H; Bird, Thomas D; Cohen, Annie; Chrem, Patricio; Daniels, Alisha; Chhatwal, Jasmeer P; Cruchaga, Carlos; Ibanez, Laura; Jucker, Mathias; Karch, Celeste M; Day, Gregory S; Lee, Jae-Hong; Levin, Johannes; Llibre-Guerra, Jorge; Li, Yan; Lopera, Francisco; Roh, Jee Hoon; Ringman, John M; Supnet-Bell, Charlene; van Dyck, Christopher H; Xiong, Chengjie; Wang, Guoqiao; Morris, John C; McDade, Eric; Bateman, Randall J; Benzinger, Tammie L S; Gordon, Brian A; Ances, Beau M