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

High-dose nusinersen for spinal muscular atrophy: a phase 3 randomized trial

高剂量诺西那生治疗脊髓性肌萎缩症:一项3期随机试验

Finkel, Richard S; Crawford, Thomas O; Mercuri, Eugenio; Sumner, Charlotte J; Garcia Romero, Maria Del Mar; Day, John W; Montes, Jacqueline; Sun, Peng; Tichler, Ben; Paradis, Angela D; Boesch, Emily; Inra, Jennifer; Littauer, Ross; Sohn, Jihee; Monine, Michael; Gambino, Giulia; Foster, Richard; Farewell, Raechel; Fradette, Stephanie

Combinatory Treatment to Alleviate Cellular Stress and Improve Skeletal Muscle Phenotype in Spinal Muscular Atrophy

联合治疗缓解脊髓性肌萎缩症患者的细胞应激并改善其骨骼肌表型

Zeng, Wenshu; Kong, Xiaohui; Caudal, Arianne; Zhao, Shane Rui; Alamana, Christina; Melesio, Juan; Ren, Lu; Guzman, Jessica; Pang, Paul D; Howell, Kelly; Chen, Karen S; Day, John W; Wu, Joseph C

MBNL loss of function in smooth muscle as a model for myotonic dystrophy associated gastrointestinal dysmotility

MBNL 平滑肌功能丧失可作为肌强直性营养不良相关胃肠动力障碍的模型

Peterson, Janel A M; Frias, Jesus A; Miller, Andrew N; Soni, Krishnakant G; Zhang, Yi; Xia, Zheng; Day, John W; Preidis, Geoffrey A; Cooper, Thomas A

High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2

肌营养不良蛋白缺乏型肢带型肌营养不良症R2型临床结局研究中高密度脂蛋白相关胆固醇异常

White, Zoe; Rufibach, Laura; Dressman, Heather Gordish; Hilsden, Heather; Cox, Dan; Spuler, Simone; Day, John W; Jones, Kristi J; Bharucha-Goebel, Diana X; Salort-Campana, Emmanuelle; Pestronk, Alan; Walter, Maggie C; Paradas, Carmen; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Diaz-Manera, Jordi; Pegoraro, Elena; Mendell, Jerry R; Straub, Volker; Bernatchez, Pascal

Spinal Muscular Atrophy Functional Composite Score Revised (SMA-FCR) in Untreated and Nusinersen-Treated Patient Cohorts

脊髓性肌萎缩症功能综合评分修订版(SMA-FCR)在未治疗和接受Nusinersen治疗的患者队列中的比较

Pasternak, Amy; McDermott, Michael P; Montes, Jacqueline; Glanzman, Allan M; Coratti, Giorgia; Dunaway Young, Sally; Duong, Trinh Tina; Martens, William B; Day, John W; Zolkipli-Cunningham, Zarazuela; Sansone, Valeria Ada; D'Amico, Adele; Messina, Sonia; Bruno, Claudio; Mercuri, Eugenio; De Vivo, Darryl C; Darras, Basil T

Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trial

COMET试验中,经过145周的治疗,评估了阿伐葡萄糖苷酶α对晚发型庞贝病患者的疗效和安全性。

Kishnani, Priya S; Díaz-Manera, Jordi; Illarioshkin, Sergey; van der Ploeg, Ans T; Clemens, Paula R; Day, John W; Toscano, Antonio; Kushlaf, Hani; Ladha, Shafeeq; Attarian, Shahram; Carvalho, Gerson; Kostera-Pruszczyk, Anna; Erdem-Özdamar, Sevim; Goker-Alpan, Ozlem; Mozaffar, Tahseen; Straub, Volker; Roberts, Mark; Haack, Kristina An; Huynh-Ba, Olivier; Tammireddy, Swathi; Periquet, Magali; Thibault, Nathan; Zhou, Tianyue; Dimachkie, Mazen M; Schoser, Benedikt

Modeling of Dysferlinopathy (LGMDR2) Progression: A Longitudinal Fat Fraction Analysis

肌营养不良蛋白病(LGMDR2)进展建模:纵向脂肪分数分析

Bolano-Diaz, Carla Florencia; Reyngoudt, Harmen; Wilson, Ian J; James, Meredith K; Smith, Fiona Elizabeth; Caldas de Almeida Araujo, Ericky; Gordish-Dressman, Heather; Hilsden, Heather; Rufibach, Laura E; Wallace, Dorothy; Ward, Louise; Stramare, Roberto; Rampado, Alessandro; Smith, Mark; Boisserie, Jean-Marc; Le Louer, Julien; Foster, Sheryl; Peduto, Anthony; Sato, Noriko; Tamaru, Takeshi; Sawyer, Anne Marie; Day, John W; Jones, Kristi J; Walter, Maggie Christine; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Mendell, Jerry R; Pegoraro, Elena; Straub, Volker; Blamire, Andrew M; Carlier, Pierre; Diaz-Manera, Jordi

Cerebrospinal fluid proteomic profiling reveals potential biomarkers and altered pathways in myotonic dystrophy type 1

脑脊液蛋白质组学分析揭示了1型强直性肌营养不良症的潜在生物标志物和改变的通路

Zafarullah, Marwa; Kamali, Tahereh; Hagerman, Katharine A; Ghiglieri, Lisa; Duong, Tina; Wang, Eric; Sampson, Jacinda B; Day, John W

Cardiopulmonary Recovery After Maximal Exercise in Individuals with Neuromuscular Disease and Limited Mobility

神经肌肉疾病和活动受限患者最大运动后心肺恢复情况

Blumberg, Yair; de Monts, Constance; Montalvo, Samuel; Tang, Whitney J; Dunaway Young, Sally; Hageman, Nathan; Sanchis-Gomar, Fabian; Ashley, Euan A; Amar, David; Myers, Jonathan; Wheeler, Matthew T; Day, John W; Duong, Tina; Christle, Jeffrey W

KIF5A downregulation in spinal muscular atrophy links axonal regeneration defects with ALS.

脊髓性肌萎缩症中 KIF5A 的下调将轴突再生缺陷与 ALS 联系起来

Akiyama Tetsuya, Zeng Yi, Guo Caiwei, Gautier Olivia, Koepke Lauren, Bombosch Juliane, Sianto Odilia, Ross Jay P, Hoang Phuong Thi, Zhao Luke Yuchen, Spencer Cole, Monje Michelle, Day John W, Gitler Aaron D