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

TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations

TRPV4神经肌肉疾病登记研究重点关注延髓、骨骼和近端肢体表现

Kosmanopoulos, Gage P; Donohue, Jack K; Hoke, Maya; Thomas, Simone; Peyton, Margo A; Vo, Linh; Crawford, Thomas O; Sadjadi, Reza; Herrmann, David N; Yum, Sabrina W; Reilly, Mary M; Scherer, Steven S; Finkel, Richard S; Lewis, Richard A; Pareyson, Davide; Pisciotta, Chiara; Walk, David; Shy, Michael E; Sumner, Charlotte J; McCray, Brett A

Combined clinical, structural and cellular studies discriminate pathogenic and benign TRPV4 variants.

结合临床、结构和细胞研究,可以区分致病性和良性 TRPV4 变异体

Berth Sarah H, Vo Linh, Kwon Do Hoon, Grider Tiffany, Damayanti Yasmine S, Kosmanopoulos Gage, Fox Andrew, Lau Alexander R, Carr Patrice, Donohue Jack K, Hoke Maya, Thomas Simone, Karam Chafic, Fay Alex J, Meltzer Ethan, Crawford Thomas O, Gaudet Rachelle, Shy Michael E, Hellmich Ute A, Lee Seok-Yong, Sumner Charlotte J, McCray Brett A