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

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

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

100 Mitigation of oxidative stress to improve range cow grazing distribution

100 减轻氧化应激以改善牧场母牛的放牧分布

Bhadra, Ankan K; Aggarwal, Geetika; Jaysingh, Anshuman; Chen, Daniel; Daw, Jil; Weihl, Conrad C; True, Heather L; Sullivan, Landon T; Jensen, Scott S; England, James; Gimenez-Lirola, Luis; Radke, Scott; Hall, John B; Glaze, Benton B; Willmore, Carmen M; Brennan, Jameson R; Rezamand, Pedram; Collier, Robert; Murdoch, Brenda M; Sprinkle, Jim E

Seeding-competent TDP-43 persists in human patient and mouse muscle.

具有播种能力的TDP-43存在于人类患者和小鼠肌肉中

Lynch Eileen M, Pittman Sara, Daw Jil, Ikenaga Chiseko, Chen Sheng, Dhavale Dhruva D, Jackrel Meredith E, Ayala Yuna M, Kotzbauer Paul, Ly Cindy V, Pestronk Alan, Lloyd Thomas E, Weihl Conrad C