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

AAV mini-dystrophin gene therapy for Duchenne muscular dystrophy: a phase 1b trial

用于治疗杜氏肌营养不良症的AAV微型肌营养不良蛋白基因疗法:一项1b期试验

Butterfield, Russell J; Shieh, Perry B; Li, Huihua; Binks, Michael; McDonnell, Tara G; Ryan, Kelly A; Delnomdedieu, Marielle; Belluscio, Beth A; Neelakantan, Srividya; Levy, Daniel I; Schwartz, Pamela F; Smith, Edward C

Cardiac safety of fordadistrogene movaparvovec gene therapy in Duchenne muscular dystrophy: Initial observations from a phase 1b trial

杜氏肌营养不良症患者接受 fordadistrogene movaparvovec 基因治疗的心脏安全性:一项 1b 期试验的初步观察结果

Sherlock, Sarah P; Levy, Daniel I; McIntosh, Avery; Shieh, Perry B; Smith, Edward C; McDonnell, Tara G; Ryan, Kelly A; Delnomdedieu, Marielle; Binks, Michael; Lal, Ashwin K; Butterfield, Russell J

Complement activation in a phase Ib study of fordadistrogene movaparvovec for Duchenne muscular dystrophy

在针对杜氏肌营养不良症的 fordadistrogene movaparvovec 的 Ib 期研究中,补体激活

Byrne, Barry J; Butterfield, Russell J; Shieh, Perry B; Smith, Edward C; Licht, Christoph; Binks, Michael; Casinghino, Sandra; Delnomdedieu, Marielle; Ravindra, Kodihalli C; McDonnell, Tara; Ryan, Kelly; Schulz, Martin; Shen, Qi; Shi, Heliang; Sirivelu, Madhu P; Vaidya, Vishal S; Whiteley, Laurence; Levy, Daniel I

BCS1L-Associated Disease: 5'-UTR Variant Shifts the Phenotype Towards Axonal Neuropathy.

BCS1L 相关疾病:5'-UTR 变异使表型向轴突神经病变转变。

Orbach Rotem, Maio Nunziata, Butterfield Russell J, Foley A Reghan, Silverstein Sarah, Li Yan, Chao Katherine, Lehky Tanya J, Potticary Abigail, Rouault Tracey A, Donkervoort Sandra, Bönnemann Carsten G

Respiratory function and evaluation in individuals with facioscapulohumeral muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking and Research Network

肌营养不良症监测、追踪和研究网络中面肩肱型肌营养不良症患者的呼吸功能和评估

Mathews, Katherine D; Suhl, Jonathan; Conway, Kristin M; Moore, Amy; Alese, Joyce T; Butterfield, Russell J; Romitti, Paul A

Strength and functional correlates of reachable workspace in facioscapulohumeral muscular dystrophy

面肩肱型肌营养不良症患者可达工作空间的力量和功能相关性

Wang, Leo H; Hatch, Maya N; McDermott, Michael P; Martens, William B; Eichinger, Katy; Lewis, Leann; Walker, Michaela; Leung, Doris G; Wagner, Kathryn R; Sacconi, Sabrina; Mul, Karlien; Shieh, Perry B; Elsheikh, Bakri; Butterfield, Russell J; Johnson, Nicholas E; Sansone, Valeria; Han, Jay J; Tawil, Rabi; Statland, Jeffrey M

RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases

RNA测序为以往无法确诊的罕见病病例提供了功能性见解和诊断依据。

Lewis, Robert G; O'Shea, John M; Pizzo, Lucilla; Wen, Ting; Fulmer, Makenzie L; Zhao, Jian; Verheijen, Jan; Zhang, Chaofan; Velinder, Matt; Nicholas, Thomas J; Boyden, Steven E; Ward, Alistair; Baldwin, Erin E; Andrews, Ashley; Ruiz, Joselin Hernandez; Marchetti, Marco; Viskochil, David; Carey, John C; Bleyl, Steven B; Butterfield, Russell J; Taliercio, Vanina; Botto, Lorenzo D; Mao, Rong; Bayrak-Toydemir, Pinar

Neurobehavioral Phenotype of Children With Congenital Myotonic Dystrophy

先天性肌强直营养不良患儿的神经行为表型

Patel, Namita; Berggren, Kiera N; Hung, Man; Bates, Kameron; Dixon, Melissa M; Bax, Karen; Adams, Heather; Butterfield, Russell J; Campbell, Craig; Johnson, Nicholas E

Subacute liver injury in two young infants following gene replacement therapy for spinal muscular atrophy

两名接受脊髓性肌萎缩症基因替代疗法的幼婴出现亚急性肝损伤

Ables, Cassie; Jaramillo, Catalina; Wood, E Lynne; Stern, Sara; Alashari, Mouied; Book, Linda; Butterfield, Russell J

A Five-Year Review of Newborn Screening for Spinal Muscular Atrophy in the State of Utah: Lessons Learned

犹他州新生儿脊髓性肌萎缩症筛查五年回顾:经验教训

Wong, Kristen N; McIntyre, Melissa; Cook, Sabina; Hart, Kim; Wilson, Amelia; Moldt, Sarah; Rohrwasser, Andreas; Butterfield, Russell J