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

Two lysosomal genes ATP13A2 and GBA1 interact to drive neurodegeneration.

溶酶体基因 ATP13A2 和 GBA1 相互作用,导致神经退行性变。

Gu Mingxue, Zhao Jinghan, Deng Mingxi, Lin Guang, Pan Xueyang, Lin Wenwen, Ma Mengqi, Kim Jinyong, Byeon Seul Kee, Pandey Akhilesh, Lange Lara M, Shaw Chad A, Kim Jonggeol, Trinh Joanne, Klein Christine, Kanca Oguz, Shulman Joshua M, Bellen Hugo J

Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease

罕见但重要?评估帕金森病中与肌张力障碍相关的基因变异

Lange, Lara M; Fang, Zih-Hua; Screven, Laurel; Tan, Ai Huey; Alcalay, Roy N; Amouri, Rim; Bovenzi, Roberta; Fenn, Matilda; Frost, Joshua L I; Jankovic, Joseph; Jasaityte, Simona; Jaunmuktane, Zane; Jeon, Beomseok; Sarmiento, Ignacio Juan Keller; Krüger, Rejko; Kuhlenbäumer, Gregor; Lin, Chin-Hsien; Pavelka, Lukas; Periñan, Maria Teresa; Sassi, Samia Ben; Schirinzi, Tommaso; Shin, Jung Hwan; Shulman, Joshua M; Tay, Yi Wen; Uitti, Ryan; Warner, Tom; Wszolek, Zbigniew K; Wu, Lesley; Wu, Ruey-Meei; Zeuner, Kirsten E; Blauwendraat, Cornelis; Singleton, Andrew; Mencacci, Niccolò E; Morris, Huw R; Lim, Shen-Yang; Lohmann, Katja; Klein, Christine

The words community dwelling, Spanish-preferring Mexican/Mexican American adults use to talk about Alzheimer's disease and genetic testing: Implications for education and outreach

居住在社区、偏好西班牙语的墨西哥裔/墨西哥裔美国成年人在谈论阿尔茨海默病和基因检测时所使用的词语:对教育和宣传的启示

Fong, Jamie C; Chavez, Fatima I; Silos, Karla; Arroyo-Miranda, Mirna L; Castro, Gabriela Castro; Kunik, Mark E; Shulman, Joshua M; Medina, Luis D

Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder

RAPGEF2基因中罕见的杂合新生变异与神经发育障碍相关。

Bereshneh, Ali H; Wilson, Kirkland A; Pan, Xueyang; Hannan, Shabab B; Cooper, Megan A; Diaz, Jullianne; Leon, Eyby; Moses, Tiana M; Azamian, Mahshid S; Scott, Daryl A; Billie Au, Ping Yee; Appendino, Juan Pablo; Scheffer, Ingrid E; Kaspi, Antony; Bahlo, Melanie; Hildebrand, Michael S; Morgan, Angela T; Ekure, Ekanem; Shulman, Joshua M; Hildebrandt, Friedhelm; Posey, Jennifer E; Kruszka, Paul; Vilain, Eric; Yamamoto, Shinya; Kanca, Oguz; Berger, Seth; Bellen, Hugo J

Massive-scale single-nucleus multi-omics identifies novel rare noncoding drivers of Parkinson's disease

大规模单核多组学研究发现帕金森病的新型罕见非编码驱动基因

Menon, Shreya; Turner, Adam W; Chang, Serena H; Johnson, Alia W; Chang, Heather H; Shah, Aayushi J; Zeng, Youjie; Strohlein, Colleen E; Kampman, Lucas; Colston, Courtney; Kozlenkov, Alexey; Dracheva, Stella; Avenali, Micol; Palermo, Giovanni; Ceravolo, Roberto; Valente, Enza Maria; Gabbert, Carolin; Trinh, Joanne; Serrano, Geidy E; Beach, Thomas G; Shulman, Joshua M; Blauwendraat, Cornelis; Montine, Thomas J; Fang, Zih-Hua; Belloy, Michael E; Corces, M Ryan

Investigating the Effect of Increased TMEM106B in a Tauopathy Model

研究TMEM106B增加对tau蛋白病模型的影响

Patel, Haritosh; Huang, Yu Xuan; Dengiz, Duygu; Pravdivtseva, Mariya; Jansen, Olav; Quandt, Eckhard; Aizenberg, Joanna; de Haro, Maria; Fadel, Omar El; Stephens, Morgan Catherine; Lee, Kwanghyuk Danny; Lichtarge, Olivier; Al‐Ramahi, Ismael; Botas, Juan; Li‐Kroeger, David; Al‐Ramahi, Ismael; Smith, Nathaniel; Marella, Aditi; Amoh, Bismark K; Saladi, Saathwik; Marfathia, Ruhee; Botas, Juan; Seyfried, Nicholas T; Levey, Allan I; Shulman, Joshua M; Amador, Adulfo Anaya; Aguirre‐Lamus, Isabella; Timperman, Dylan Lawrence; Kim, Peter; Jankowsky, Joanna L; Al‐Ramahi, Ismael

Longitudinal multi-omics in alpha-synuclein Drosophila model discriminates disease- from age-associated pathologies in Parkinson's disease.

α-突触核蛋白果蝇模型中的纵向多组学可区分帕金森病中的疾病相关病理和年龄相关病理

Moore Justin, Wu Timothy, Dhindsa Justin, El Fadel Omar, Le Anh, Perez Alma, Amoh Bismark, Tarkunde Akash, Zhu Katy F, Avalos Matthew, Dammer Eric B, Duong Duc M, Seyfried Nicholas T, Shulman Joshua M, Al-Ramahi Ismael, Botas Juan

The SMOC1 proteomics network controls signaling modalities, brain homeostasis and toxicity in fly Alzheimer's disease models

SMOC1蛋白质组学网络调控果蝇阿尔茨海默病模型中的信号传导模式、脑稳态和毒性

Byeon, Yen Ji Julia; Islamaj, Rezarta; Yeganova, Lana; Wilbur, W John; Lu, Zhiyong; Brody, Lawrence C; Bonham, Vence L; Li‐Kroeger, David; Al‐Ramahi, Ismael; Smith, Nathaniel; Marella, Aditi; Amoh, Bismark K; Saladi, Saathwik; Marfathia, Ruhee; Botas, Juan; Seyfried, Nicholas T; Levey, Allan I; Shulman, Joshua M

Revealing the nervous system requirements of Alzheimer disease risk genes in Drosophila

揭示果蝇中阿尔茨海默病风险基因的神经系统需求

Deger, Jennifer M; Hannan, Shabab B; Gu, Mingxue; Strohlein, Colleen E; Goodman, Lindsey D; Pasupuleti, Sasidhar; Shaik, Zahid; Ma, Liwen; Li, Yarong; Li, Jiayang; Stephens, Morgan C; Tyrlík, Michal; Liu, Zhandong; Al-Ramahi, Ismael; Botas, Juan; Shaw, Chad A; Kanca, Oguz; Bellen, Hugo J; Shulman, Joshua M

The Causal Pivot: A structural approach to genetic heterogeneity and variant discovery in complex diseases

因果枢纽:复杂疾病中遗传异质性和变异发现的结构方法

Shaw, Chad A; Williams, C J; Tan, Taotao; Illera, Daniel; Di, Nicholas; Shulman, Joshua M; Belmont, John W