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

Kctd7 deficiency induces myoclonic seizures associated with Purkinje cell death and microvascular defects

Kctd7 缺陷可诱发肌阵挛性癫痫发作,并伴有浦肯野细胞死亡和微血管缺陷。

Liang, Justine H; Alevy, Jonathan; Akhanov, Viktor; Seo, Ryan; Massey, Cory A; Jiang, Danye; Zhou, Joy; Sillitoe, Roy V; Noebels, Jeffrey L; Samuel, Melanie A

Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein.

早期补充葡萄糖转运蛋白-1 可预防脑微血管缺陷和 Glut1 缺乏症

Tang Maoxue, Gao Guangping, Rueda Carlos B, Yu Hang, Thibodeaux David N, Awano Tomoyuki, Engelstad Kristin M, Sanchez-Quintero Maria-Jose, Yang Hong, Li Fanghua, Li Huapeng, Su Qin, Shetler Kara E, Jones Lynne, Seo Ryan, McConathy Jonathan, Hillman Elizabeth M, Noebels Jeffrey L, De Vivo Darryl C, Monani Umrao R