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

Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants

由SLC12A6变异引起的显性夏科-马里-图斯病谱

Record, Christopher J; Grider, Tiffany; Rebelo, Adriana P; Laurini, Christian; Skorupinska, Mariola; Danzi, Matt C; Poh, Roy; Tomaselli, Pedro J; Frezatti, Rodrigo S; Dominik, Natalia; Grosz, Bianca; Ellis, Melina; Kumar, Kishore R; Harms, Matthew B; Weihl, Conrad C; Marques Júnior, Wilson; Claeys, Kristl G; Blake, Julian C; Holt, James Kl; Weber, Astrid; Jacobson, Ryan; Dineen, Richard T; Falzone, Yuri M; Previtali, Stefano C; Menezes, Manoj P; Vucic, Steve; Laura, Matilde; Kennerson, Marina L; Shy, Michael E; Zuchner, Stephan; Reilly, Mary M

Translation of expanded CGG repeats in LRP12 associated oculopharyngodistal myopathy

LRP12相关眼咽远端肌病中CGG重复序列扩增的翻译

Li, Chengcheng; Daw, Jil A; Pittman, Sara K; Maltby, Connor J; Sakurai, Hidetoshi; Todd, Peter K; Weihl, Conrad C

Mutations in Hsp40 co-chaperone change the canonical interdomain interactions stimulating LGMDD1 myopathy.

Hsp40 辅助伴侣蛋白的突变改变了经典的域间相互作用,从而刺激 LGMDD1 肌病。

Bhadra Ankan K, Aggarwal Geetika, Jaysingh Anshuman, Chen Daniel, Daw Jil, Weihl Conrad C, True Heather L

Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R9

定量测定糖基化α-肌营养不良蛋白聚糖作为肢带型肌营养不良症2I/R9型疾病严重程度的生物标志物

Vissing, John; Mozaffar, Tahseen; Johnson, Nicholas E; Mathews, Katherine D; Wicklund, Matthew P; Weihl, Conrad; Leung, Doris G; Statland, Jeffrey M; Kang, Peter B; Zingariello, Carla D; Lowes, Linda Pax; Desai, Urvi; Bates, Kameron; Alfano, Lindsay N; Xie, Han; St Romain, Jessica; Blankenbiller, Tricia; McLendon, George; Rajasingham, Thulashitha; Heitzer, Marjet; Wu-Zhang, Alyssa X; Tripp, Kenneth; Rodriguez, Hector M; Sproule, Douglas

Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy

抑制DNAJ-HSP70相互作用可改善肌营养不良症患者的力量

Bengoechea, Rocio; Findlay, Andrew R; Bhadra, Ankan K; Shao, Hao; Stein, Kevin C; Pittman, Sara K; Daw, Jil Aw; Gestwicki, Jason E; True, Heather L; Weihl, Conrad C

Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular Dystrophy

专家就肢带型肌营养不良症患者的基因诊断方法达成共识

Straub, Volker; Clause, Amanda R; Donkervoort, Sandra; Kang, Peter B; Laverty, Chamindra G; Niu, Zhiyv; Wicklund, Matthew P; Bönnemann, Carsten G; Cooper, Sandra T; Díaz-Manera, Jordi; Johnson, Nicholas E; Narayanaswami, Pushpa; Vissing, John; Walter, Maggie C; Craige, Caryne; Weihl, Conrad C

An ethanol-induced loss of the lipid droplet-associated segregase VCP/p97 leads to hepatic steatosis.

乙醇引起的脂滴相关分离酶 VCP/p97 的丢失会导致肝脂肪变性

Sen Sandhya, Weller Shaun, Schulze Ryan J, Ding Donglin, Casey Carol A, Weihl Conrad, McNiven Mark A

2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy

2024年VCP国际会议:探索从含缬氨酸蛋白(一种AAA+ ATPase蛋白)的基础科学到VCP相关多系统蛋白病治疗进展的多学科方法

Peck, A; Dadi, A; Yavarow, Z; Alfano, L N; Anderson, D; Arkin, M R; Chou, T F; D'Ambrosio, E S; Diaz-Manera, J; Dudley, J P; Elder, A G; Ghoshal, N; Hart, C E; Hart, M M; Huryn, D M; Johnson, A E; Jones, K B; Kimonis, V; Kiskinis, E; Lee, E B; Lloyd, T E; Mapstone, M; Martin, A; Meyer, H; Mozaffar, T; Onyike, C U; Pfeffer, G; Pindon, A; Raman, M; Richard, I; Rubinsztein, D C; Schiava, M; Schütz, A K; Shen, P S; Southworth, D R; Staffaroni, A M; Taralio-Gravovac, M; Weihl, C C; Yao, Q; Ye, Y; Peck, N

ALS-related p97 R155H mutation disrupts lysophagy in iPSC-derived motor neurons

ALS相关的p97 R155H突变会破坏iPSC衍生运动神经元中的溶菌吞噬作用

Klickstein, Jacob A; Johnson, Michelle A; Antonoudiou, Pantelis; Maguire, Jamie; Paulo, Joao A; Gygi, Steve P; Weihl, Chris; Raman, Malavika

Myofibrillar myopathy: towards a mechanism-based definition as a Z-disk-opathy

肌原纤维肌病:迈向基于机制的Z盘病定义

Inoue, Michio; Weihl, Conrad C