Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing
Author:
Funder
University of Sydney
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,Neurology
Link
http://link.springer.com/content/pdf/10.1007/s12311-019-01038-0.pdf
Reference51 articles.
1. Synofzik M, Schule R. Overcoming the divide between ataxias and spastic paraplegias: shared phenotypes, genes, and pathways. Mov Disord. 2017;32:332–45.
2. Mundwiler A, Shakkottai VG. Autosomal-dominant cerebellar ataxias. Handb Clin Neurol. 2018;147:173–85.
3. Fogel BL. Autosomal-recessive cerebellar ataxias. Handb Clin Neurol. 2018;147:187–209.
4. Klebe S, Stevanin G, Depienne C. Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting. Rev Neurol (Paris). 2015;171:505–30.
5. Didonna A, Opal P. Advances in sequencing Technologies for Understanding Hereditary Ataxias: a review. JAMA Neurol. 2016;73:1485–90.
Cited by 28 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. Genetic Testing of Movements Disorders: A Review of Clinical Utility;Tremor and Other Hyperkinetic Movements;2024
2. Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases;Journal of Medical Genetics;2023-09-21
3. Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice;neurogenetics;2023-05-03
4. Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia;Annals of Clinical and Translational Neurology;2023-01-06
5. Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis;Neurological Sciences;2022-11-28
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