Spinocerebellar ataxia type 27 (SCA27) is an uncommon cause of dominant ataxia among Chinese Han population
Author:
Publisher
Elsevier BV
Subject
General Neuroscience
Reference14 articles.
1. Evaluation of denaturing high performance liquid chromatography for the mutational analysis of the MEN1 gene;Crepin;Journal of Molecular Endocrinology,2006
2. Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias;Dalski;European Journal of Human Genetics,2005
3. The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the ‘the Drew family of Walworth’;Harding;Brain,1982
4. Clinical features and classification of inherited ataxias;Harding;Advances in Neurology,1993
5. DHPLC in clinical molecular diagnostic services;Kosaki;Molecular Genetics and Metabolism,2005
Cited by 9 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. Genome-Wide Association Study Points New Direction for Downbeat Nystagmus Research;The Cerebellum;2020-04-06
2. Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27;Journal of Internal Medicine;2020-03-19
3. Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype;TREMOR OTHER HYPERK;2018
4. Familial episodic ataxia in lambs is potentially associated with a mutation in the fibroblast growth factor 14 (FGF14) gene;PLOS ONE;2017-12-18
5. Parallel fiber to Purkinje cell synaptic impairment in a mouse model of spinocerebellar ataxia type 27;Frontiers in Cellular Neuroscience;2015-06-04
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