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

SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrum

SOD1 p.D12Y 变异与肌萎缩侧索硬化症/远端肌病谱相关

G Tasca, S Lattante, G Marangi, A Conte, D Bernardo, G Bisogni, P Mandich, M Zollino, E Ragozzino, B Udd, M Sabatelli

Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect

KARS 的新突变导致肥厚性心肌病和线粒体呼吸链缺陷

D Verrigni, D Diodato, M Di Nottia, A Torraco, E Bellacchio, T Rizza, G Tozzi, M Verardo, F Piemonte, G Tasca, A D'Amico, E Bertini, R Carrozzo