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

Functional and molecular characterization of Aspergillus fumigatus phosphoglucomutase (Pgm): a potential target for antifungal therapy

烟曲霉磷酸葡萄糖变位酶 (Pgm) 的功能和分子特征:抗真菌治疗的潜在靶点

Achilonu, Conrad C; Kottom, Theodore J; Limper, Andrew H

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

The modern pattern of insect herbivory predates the advent of angiosperms by 60 My

现代昆虫取食植物的模式比被子植物的出现早了6000万年。

Xiao, Lifang; Chen, Liang; Labandeira, Conrad C; Azevedo-Schmidt, Lauren; Wang, Yongjie; Ren, Dong

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

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

Prospective observational study of FKRP-related limb-girdle muscular dystrophy R9: A GRASP consortium study

一项关于FKRP相关肢带型肌营养不良症R9的前瞻性观察研究:GRASP联盟研究

Alfano, Lindsay N; James, Meredith K; Grosfjeld Petersen, Kristine; Rudolf, Karen; Vissing, John; Augsburger, Renee; Mozaffar, Tahseen; Jones, Aileen; Butler, Amanda; Laubscher, Katie M; Mockler, Shelley R H; Mathews, Katherine D; Iammarino, Megan A; Reash, Natalie F; Pietruszewski, Lindsay; Lowes, Linda P; Strahler, Talia; Wicklund, Matthew; Hunn, Stephanie; Weihl, Conrad C; Sasidharan, Sandhya; Currence, Melissa; Statland, Jeffrey M; Stinson, Nikia; Holzer, Megan; Leung, Doris G; Lott, Donovan J; Kang, Peter B; Holsten, Scott; Desai, Urvi; Johnson, Nicholas E

Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study

肢带型肌营养不良症R1(LGMDR1)临床试验准备情况:GRASP联盟研究

Hunn, Stephanie M; Alfano, Lindsay N; Jones, Aileen; Butler, Amanda; Lowes, Linda P; Iammarino, Megan A; Reash, Natalie F; Pietruszewski, Lindsay; Sasidharan, Sandhya; Currence, Melissa; Statland, Jeffrey M; Strahler, Talia; Will, Robert; Wicklund, Matthew; Dixon, Stacy; Augsburger, Renee; Mozaffar, Tahseen; Laubscher, Katie M; Mockler, Shelley R H; Mathews, Katherine D; Stinson, Nikia; Leung, Doris G; Stark, Molly M; Horton, Rebecca A; Kang, Peter B; James, Meredith K; Clause, Amanda; Weihl, Conrad C; Johnson, Nicholas E