Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders
Author:
Affiliation:
1. Invitae, San Francisco, California, USA.
2. Department of Neurology, University of California, Los Angeles, Los Angeles, California, USA.
Publisher
Mary Ann Liebert Inc
Subject
Genetics(clinical),General Medicine
Link
https://www.liebertpub.com/doi/pdf/10.1089/gtmb.2019.0282
Reference56 articles.
1. Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene
2. Spinal muscular atrophy: Diagnosis and management in a new therapeutic era
3. The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor
4. Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings
Cited by 14 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. Carrier Screening and Diagnosis for Spinal Muscular Atrophy Using Droplet Digital PCR Versus MLPA: Analytical Validation and Early Test Outcome;Genetic Testing and Molecular Biomarkers;2024-05-01
2. NAIP Gene Deletion and SMN2 Copy Number as Molecular Tools in Predicting the Severity of Spinal Muscular Atrophy;Biochemical Genetics;2024-02-22
3. Spinal muscular atrophy: Molecular mechanism of pathogenesis, diagnosis, therapeutics, and clinical trials in the Indian context;Journal of Biosciences;2024-02-20
4. 270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10–12 March, 2023, Hoofddorp, the Netherlands;Neuromuscular Disorders;2024-01
5. Current Advances in Genetic Testing for Spinal Muscular Atrophy;Current Genomics;2023-09
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