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

Neuronal defects in a human cellular model of 22q11.2 deletion syndrome

22q11.2 缺失综合征人类细胞模型中的神经元缺陷

Themasap A Khan #, Omer Revah #, Aaron Gordon #, Se-Jin Yoon, Anna K Krawisz, Carleton Goold, Yishan Sun, Chul Hoon Kim, Yuan Tian, Min-Yin Li, Julia M Schaepe, Kazuya Ikeda, Neal D Amin, Noriaki Sakai, Masayuki Yazawa, Leila Kushan, Seiji Nishino, Matthew H Porteus, Judith L Rapoport, Jonathan A Be

A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients

有害的 Nav1.1 突变会选择性地损害 Dravet 综合征患者的端脑抑制神经元

Yishan Sun, Sergiu P Paşca, Thomas Portmann, Carleton Goold, Kathleen A Worringer, Wendy Guan, Karen C Chan, Hui Gai, Daniel Vogt, Ying-Jiun J Chen, Rong Mao, Karrie Chan, John Lr Rubenstein, Daniel V Madison, Joachim Hallmayer, Wendy M Froehlich-Santino, Jonathan A Bernstein, Ricardo E Dolmetsch