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

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

肌萎缩侧索硬化症的外显子组测序表明,一种编码热休克蛋白的新基因 DNAJC7 存在

Sali M K Farhan, Daniel P Howrigan, Liam E Abbott, Joseph R Klim, Simon D Topp, Andrea E Byrnes, Claire Churchhouse, Hemali Phatnani, Bradley N Smith, Evadnie Rampersaud, Gang Wu, Joanne Wuu, Aleksey Shatunov, Alfredo Iacoangeli, Ahmad Al Khleifat, Daniel A Mordes, Sulagna Ghosh; ALSGENS Consortium;

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

ALS 相关的错义和无义 TBK1 突变均可导致激酶功能丧失

Martina de Majo, Simon D Topp, Bradley N Smith, Agnes L Nishimura, Han-Jou Chen, Athina Soragia Gkazi, Jack Miller, Chun Hao Wong, Caroline Vance, Frank Baas, Anneloor L M A Ten Asbroek, Kevin P Kenna, Nicola Ticozzi, Alberto Garcia Redondo, Jesús Esteban-Pérez, Cinzia Tiloca, Federico Verde, Stefan

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

囊泡运输蛋白膜联蛋白 A11 的突变与肌萎缩侧索硬化症有关

Bradley N Smith, Simon D Topp, Claudia Fallini, Hideki Shibata, Han-Jou Chen, Claire Troakes, Andrew King, Nicola Ticozzi, Kevin P Kenna, Athina Soragia-Gkazi, Jack W Miller, Akane Sato, Diana Marques Dias, Maryangel Jeon, Caroline Vance, Chun Hao Wong, Martina de Majo, Wejdan Kattuah, Jacqueline C