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

Profiling the TRPV4 ankyrin repeat domain interactome and its disruption by neuromuscular disease-causing mutations

分析TRPV4锚蛋白重复结构域相互作用组及其受神经肌肉疾病致病突变的影响

Loder, Alexis K; Kosmanopoulos, Gage P; Aisenberg, William H; Cox, Eric; Meeker, Alexis R; Blackshaw, Seth; Gaudet, Rachelle; Hellmich, Ute A; McCray, Brett A; Sumner, Charlotte J; Sullivan, Jeremy M

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

Association of the Recurrent ATP1 A1 Variant p.Gly549Arg With Intermediate CMT and Loss of Na,K-ATPase Function

复发性 ATP1 A1 变异体 p.Gly549Arg 与中间型 CMT 和 Na,K-ATPase 功能丧失相关

Spontarelli Fruit, Kerri; Olivera, J Fernando; Colmano, Nicolas; Bird, Shawn J; McCray, Brett A; Yano, Sho T; Scherer, Steven S; Artigas, Pablo

Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice

小鼠内皮细胞中TRPV4的功能获得性突变会导致血脑屏障破坏和运动神经元退化。

Sullivan, Jeremy M; Bagnell, Anna M; Alevy, Jonathan; Avila, Elvia Mena; Mihaljević, Ljubica; Saavedra-Rivera, Pamela C; Kong, Lingling; Huh, Jennifer S; McCray, Brett A; Aisenberg, William H; Zuberi, Aamir R; Bogdanik, Laurent; Lutz, Cathleen M; Qiu, Zhaozhu; Quinlan, Katharina A; Searson, Peter C; Sumner, Charlotte J

Clinical Outcome Assessments and Biomarkers in Charcot-Marie-Tooth Disease

夏科-马里-图斯病的临床结果评估和生物标志物

McCray, Brett A; Fridman, Vera

Clinical Characteristics of Charcot-Marie-Tooth Disease Type 4J

夏科-马里-图斯病4J型的临床特征

Sadjadi, Reza; Picher-Martel, Vincent; Morrow, Jasper M; Thedens, Daniel; DiCamillo, Paul A; McCray, Brett A; Pareyson, Davide; Herrmann, David N; Reilly, Mary M; Li, Jun; Castro, Diana; Shy, Michael E

Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history

由SH3TC2双等位基因变异引起的神经病变:基因型-表型相关性及自然史

Rehbein, Tyler; Wu, Tong Tong; Treidler, Simona; Pareyson, Davide; Lewis, Richard; Yum, Sabrina W; McCray, Brett A; Ramchandren, Sindhu; Burns, Joshua; Li, Jun; Finkel, Richard S; Scherer, Steven S; Zuchner, Stephan; Shy, Michael E; Reilly, Mary M; Herrmann, David N

Structural insights into TRPV4-Rho GTPase signaling complex function and disease

TRPV4-Rho GTP酶信号复合物功能和疾病的结构解析

Kwon, Do Hoon; Zhang, Feng; McCray, Brett A; Kumar, Meha; Sullivan, Jeremy M; Sumner, Charlotte J; Lee, Seok-Yong

TRPV4: A trigger of pathological RhoA activation in neurological disease

TRPV4:神经系统疾病中病理性RhoA激活的触发因素

Bagnell, Anna M; Sumner, Charlotte J; McCray, Brett A