Rethinking Genotype and Phenotype Correlations in Polyglutamine Expansion Disorders
Author:
Publisher
Oxford University Press (OUP)
Subject
Genetics (clinical),Genetics,Molecular Biology,General Medicine
Link
http://academic.oup.com/hmg/article-pdf/6/12/2005/6950478/6-12-2005.pdf
Reference89 articles.
1. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease
2. Maternal anticipation of DRPLA
3. Reduction of CAG expansions in cerebellar cortex and spinal cord of DRPLA
4. Mapping and cloning of the critical region for the spinocerebellar ataxia type 1 gene (SCA1) in a yeast artificial chromosome contig spanning 1.2 Mb
5. Identification and characterization of the gene causing type 1 spinocerebellar ataxia
Cited by 116 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. A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing;Scientific Reports;2023-08-08
2. Ultrasonographic evaluation reveals thinning of cervical nerve roots and peripheral nerves in spinal and bulbar muscular atrophy;Neurological Sciences;2022-03-02
3. Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity;Science Advances;2021-08-20
4. Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndrome;Andrologia;2020-10-27
5. Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach;Journal of Medical Genetics;2020-06-22
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