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

De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor

与神经系统疾病相关的 M3 螺旋中的新生 GRIN 变体控制 NMDA 受体的通道门控

Yuchen Xu, Rui Song, Riley E Perszyk, Wenjuan Chen, Sukhan Kim, Kristen L Park, James P Allen, Kelsey A Nocilla, Jing Zhang, Wenshu XiangWei, Anel Tankovic, Ellington D McDaniels, Rehan Sheikh, Ruth K Mizu, Manish M Karamchandani, Chun Hu, Hirofumi Kusumoto, Joseph Pecha, Gerarda Cappuccio, John Gai

Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy

对患有严重全面发育迟缓和难治性癫痫的患者发现的 GRIN2A 新发突变进行功能评估

Wenjuan Chen, Anel Tankovic, Pieter B Burger, Hirofumi Kusumoto, Stephen F Traynelis, Hongjie Yuan

A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia

与儿童期局灶性癫痫和获得性癫痫性失语症相关的 GRIN2A 新发功能丧失突变

Kai Gao, Anel Tankovic, Yujia Zhang, Hirofumi Kusumoto, Jin Zhang, Wenjuan Chen, Wenshu XiangWei, Gil H Shaulsky, Chun Hu, Stephen F Traynelis, Hongjie Yuan, Yuwu Jiang

GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function

与智力障碍相关的 GRIN1 突变会改变 NMDA 受体的运输和功能

Wenjuan Chen, Christine Shieh, Sharon A Swanger, Anel Tankovic, Margaret Au, Marianne McGuire, Michele Tagliati, John M Graham, Suneeta Madan-Khetarpal, Stephen F Traynelis, Hongjie Yuan, Tyler Mark Pierson

Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology

NMDA 受体前 M1 螺旋疾病相关突变的分子机制及潜在的救援药理学

Kevin K Ogden, Wenjuan Chen, Sharon A Swanger, Miranda J McDaniel, Linlin Z Fan, Chun Hu, Anel Tankovic, Hirofumi Kusumoto, Gabrielle J Kosobucki, Anthony J Schulien, Zhuocheng Su, Joseph Pecha, Subhrajit Bhattacharya, Slavé Petrovski, Adam E Cohen, Elias Aizenman, Stephen F Traynelis, Hongjie Yuan