Identification of Abnormal 51 CTA/CTG Expansion as Probably the Shortest Pathogenic Allele for Spinocerebellar Ataxia-8 in China
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine,Physiology,General Neuroscience
Link
http://link.springer.com/article/10.1007/s12264-018-0247-1/fulltext.html
Reference11 articles.
1. Muso Z, Sedlacek Z, Mazanec R, Klempir J, Roth J, Plevova P, et al. Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro–pallidoluysian atrophy in Czech ataxic patients. Cerebellum 2013, 12:155–161.
2. Ikeda Y, Dalton JC, Moseley ML, Gardner KL, Bird TD, Ashizawa T, et al. Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. Am J Hum Genet 2004, 75: 3–16.
3. Mariotti C, Di Donato S. Cerebellar/spinocerebellar syndromes. Neurol Sci 2001, 22 Suppl 2: S88–S92.
4. Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, et al. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 1999, 21: 379–384.
5. Silveira I, Alonso I, Guimaraes L, Mendonca P, Santos C, Maciel P, et al. High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles. Am J Hum Genet 2000, 66: 830–840.
Cited by 7 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. The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes;The Cerebellum;2023-10-31
2. Spastic paraplegia is the main manifestation of a spinocerebellar ataxia type 8 lineage in China: a case report and review of literature;Frontiers in Human Neuroscience;2023-07-17
3. Spinocerebellar ataxia type 8 presents as progressive supranuclear palsy;Neurosciences;2023-07
4. The Frequency of Intermediate Alleles in Patients With Cerebellar Phenotypes;2023-05-30
5. Chinese abnormal compound heterozygote spinocerebellar ataxia type 8: a case report;Neurological Sciences;2022-01-07
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