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

Regenerative Index reveals declining muscle regeneration in paediatric patients with Duchenne muscular dystrophy

再生指数显示杜氏肌营养不良症患儿肌肉再生能力下降

Smid, Johnathan K; McPherson, Charis A; Monast, Jacob G; Rayagiri, Shanti S S; Moore, Steven A; Rudnicki, Michael A

Dilated Cardiomyopathy and Later Onset Limb-Girdle Muscular Dystrophy Associated With Fukutin and LaminA/C Mutations

与福库汀和层粘蛋白A/C突变相关的扩张型心肌病和晚发型肢带型肌营养不良症

Cardona Perez, Alejandra; Moenning, Renee; Bodkin, Cynthia; Gutmann, Laurie; Helm, Benjamin M; Wells, Layne; Moore, Steven A; Ilonze, Onyedika J

A genetic variant in SMAD7 acts as a modifier of LMNA-associated muscular dystrophy, implicating SMAD signaling as a therapeutic target.

SMAD7 基因变异可作为 LMNA 相关肌营养不良症的修饰因子,表明 SMAD 信号传导可作为治疗靶点

Mohar Nathaniel P, Langland Christopher J, Darr Zachary, Viles Jill, Moore Steven A, Darbro Benjamin W, Wallrath Lori L

A pineal region mass in a 55-year-old female

一名55岁女性的松果体区出现肿块

McConeghey, Aaron; Abdullaev, Zied; Aldape, Kenneth; Moore, Steven A; Lopes Abath Neto, Osorio

UDP-glucose dehydrogenase variants cause dystroglycanopathy.

UDP-葡萄糖脱氢酶变异体可导致肌营养不良蛋白病

Reelfs Anna M, Stephan Carrie M, Czech Theresa M, Cox Mary O, Joseph Soumya, Darbro Benjamin W, Moore Steven A, Campbell Kevin P, Mathews Katherine D

Establishment of normal myofiber size distribution in children and young adults

建立儿童和青少年正常肌纤维大小分布

Lawlor, Michael W; Margeta, Marta; Jones, Karra A; Schoser, Benedikt; Cotter, Jennifer A; Rajaram, Veena; Moore, Steven A; Prom, Mariah J; Beatka, Margaret; Ott, Emily; Slick, Rebecca A; Collins, Michael P; Esselman, Ann; Shahnoor, Nazima; Danielson, Susan; Meng, Hui; Varfaj, Fatbardha; Prasad, Suyash; Rico, Salvador; Lee, Jun; Kumar, Suresh N; Dressman, Heather Gordish

Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1

对携带SPTLC1致病变异的早发性肌萎缩侧索硬化症患者进行30年随访

Ajjarapu, Aparna; Feely, Shawna M E; Shy, Michael E; Trout, Christina; Zuchner, Stephan; Moore, Steven A; Mathews, Katherine D

Development and Validation of a Western Blot Method to Quantify Mini-Dystrophin in Human Skeletal Muscle Biopsies

开发和验证一种用于定量检测人骨骼肌活检组织中微型肌营养不良蛋白的蛋白质印迹法

Soderstrom, Catherine I; Larsen, Jennifer; Owen, Carolina; Gifondorwa, David; Beidler, David; Yong, Florence H; Conrad, Patricia; Neubert, Hendrik; Moore, Steven A; Hassanein, Mohamed

Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy

杜氏肌营养不良症和贝克尔肌营养不良症中的内含子突变和早期转录终止

Waldrop, Megan A; Moore, Steven A; Mathews, Katherine D; Darbro, Benjamin W; Medne, Livja; Finkel, Richard; Connolly, Anne M; Crawford, Thomas O; Drachman, Daniel; Wein, Nicolas; Habib, Ali A; Krzesniak-Swinarska, Monika A; Zaidman, Craig M; Collins, James J; Jokela, Manu; Udd, Bjarne; Day, John W; Ortiz-Guerrero, Gloria; Statland, Jeff; Butterfield, Russell J; Dunn, Diane M; Weiss, Robert B; Flanigan, Kevin M

Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in FKRP Gene

由FKRP基因中一种新型复杂插入/重复变异引起的肢带型肌营养不良症R9

Willis, Erin; Moore, Steven A; Cox, Mary O; Stefans, Vikki; Aravindhan, Akilandeswari; Gokden, Murat; Veerapandiyan, Aravindhan