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

Developmental splicing deregulation in leukodystrophies related to EIF2B mutations

与 EIF2B 突变相关的白质营养不良症中的发育剪接失调

Aurélia Huyghe, Laetitia Horzinski, Alain Hénaut, Marina Gaillard, Enrico Bertini, Raphael Schiffmann, Diana Rodriguez, Yann Dantal, Odile Boespflug-Tanguy, Anne Fogli

Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients

对 CACH/VWM 患者中 eIF2B 突变淋巴细胞和淋巴母细胞的内质网应激反应进行评估

Horzinski, Laetitia; Kantor, Liraz; Huyghe, Aurélia; Schiffmann, Raphael; Elroy-Stein, Orna; Boespflug-Tanguy, Odile; Fogli, Anne