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

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

LZTR1基因的种系功能缺失突变会导致多发性神经鞘瘤的遗传性疾病。

Arkadiusz Piotrowski,Jing Xie,Ying F Liu,Andrzej B Poplawski,Alicia R Gomes,Piotr Madanecki,Chuanhua Fu,Michael R Crowley,David K Crossman,Linlea Armstrong,Dusica Babovic-Vuksanovic,Amanda Bergner,Jaishri O Blakeley,Andrea L Blumenthal,Molly S Daniels,Howard Feit,Kathy Gardner,Stephanie Hurst,Christine Kobelka,Chung Lee,Rebecca Nagy,Katherine A Rauen,John M Slopis,Pim Suwannarat,Judith A Westman,Andrea Zanko,Bruce R Korf,Ludwine M Messiaen

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Matrin 3 基因突变导致家族性肌萎缩侧索硬化症

Janel O Johnson #, Erik P Pioro #, Ashley Boehringer #, Ruth Chia #, Howard Feit, Alan E Renton, Hannah A Pliner, Yevgeniya Abramzon, Giuseppe Marangi, Brett J Winborn, J Raphael Gibbs, Michael A Nalls, Sarah Morgan, Maryam Shoai, John Hardy, Alan Pittman, Richard W Orrell, Andrea Malaspina, Katie C