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

A Common PD-Risk GBA1 Variant Disrupts LIMP2 Interaction, Impairs Glucocerebrosidase Function, and Drives Lysosomal and Mitochondrial Dysfunction.

常见的帕金森病风险 GBA1 变异会破坏 LIMP2 相互作用,损害葡萄糖脑苷脂酶功能,并导致溶酶体和线粒体功能障碍

Davis Oliver B, Kung Jennifer E, Davis Sonnet S, Ghosh Rajarshi, Andrews Shan V, Gould Neal S, Kluss Jillian H, Thomsen Elliot, Agam Maayan, Coan John P, Maloney Michael T, Nguyen Ann H, Nguyen Hoang N, Propson Nicholas E, Lozano Edwin I, Yuan Tianao, Xa Kaitlin, Sperberg R Andres Parra, Jain Shourya, Lawrence Roger, Ullman Julie C, Balasundar Srijana, Benton H Paul, Petkovic Maja, Qerqez Ahlam N, Wang Xiang, Zhu Sha, Di Paolo Gilbert, Kariolis Mihalis S, Mahon Cathal S, Arguello Annie, Vocadlo David J, Cookson Mark R, Suh Jung H, Rougé Lionel, Henry Anastasia G

Characterization of Fluid Biomarkers Reveals Lysosome Dysfunction and Neurodegeneration in Neuronopathic MPS II Patients

体液生物标志物特征分析揭示神经病变型MPS II患者的溶酶体功能障碍和神经退行性变

Bhalla, Akhil; Ravi, Ritesh; Fang, Meng; Arguello, Annie; Davis, Sonnet S; Chiu, Chi-Lu; Blumenfeld, Jessica R; Nguyen, Hoang N; Earr, Timothy K; Wang, Junhua; Astarita, Giuseppe; Zhu, Yuda; Fiore, Damian; Scearce-Levie, Kimberly; Diaz, Dolores; Cahan, Heather; Troyer, Matthew D; Harris, Jeffrey M; Escolar, Maria L

Population-based birth defects data in the United States, 2010-2014: A focus on gastrointestinal defects

2010-2014年美国基于人口的出生缺陷数据:重点关注胃肠道缺陷

Lupo, Philip J; Isenburg, Jennifer L; Salemi, Jason L; Mai, Cara T; Liberman, Rebecca F; Canfield, Mark A; Copeland, Glenn; Haight, Sarah; Harpavat, Sanjiv; Hoyt, Adrienne T; Moore, Cynthia A; Nembhard, Wendy N; Nguyen, Hoang N; Rutkowski, Rachel E; Steele, Amy; Alverson, C J; Stallings, Erin B; Kirby, Russell S