Therapeutic approaches for spinal muscular atrophy (SMA)
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Molecular Medicine
Link
https://www.nature.com/articles/gt201745.pdf
Reference42 articles.
1. Sugarman EA, Nagan N, Zhu H, Akmaev VR, Zhou Z, Rohlfs EM et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72400 specimens. Eur J Hum Genet 2012; 20: 27–32.
2. MacDonald WK, Hamilton D, Kuhle S . SMA carrier testing: a meta-analysis of differences in test performance by ethnic group. Prenat Diagn 2014; 34: 1219–1226.
3. Wadman RI, Bosboom WM, van der Pol WL, van den Berg LH, Wokke JH, Iannaccone ST et al. Drug treatment for spinal muscular atrophy type I. Cochrane Database Syst Rev 2012: Cd006281.
4. Wadman RI, Bosboom WM, van der Pol WL, van den Berg LH, Wokke JH, Iannaccone ST et al. Drug treatment for spinal muscular atrophy types II and III. Cochrane Database Syst Rev 2012: Cd006282.
5. Hua Y, Sahashi K, Rigo F, Hung G, Horev G, Bennett CF et al. Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature 2011; 478: 123–126.
Cited by 51 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3;Neurology Clinical Practice;2024-06
2. Newborn Screening Cases: Abnormal Newborn Neuromuscular Screening;Genomics in the Clinic;2024
3. Preimplantation Genetic Testing for Adult-Onset Neurodegenerative Disease;Neurology;2023-11-07
4. Safety and Efficacy of Nusinersen and Risdiplam for Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis of Randomized Controlled Trials;Brain Sciences;2023-10-07
5. Examination of Upper Limb Function and the Relationship with Gross Motor Functional and Structural Parameters in Patients with Spinal Muscular Atrophy;Biomedicines;2023-03-24
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3