A novel tyrosine hydroxylase variant in a group of Chinese patients with dopa-responsive dystonia
Author:
Affiliation:
1. Department of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, PR China
2. Department of Surgery, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, PR China
Funder
National Natural Science Foundation of China
Natural Science Foundation of Zhejiang Province
New Doctorate Teacher Fund from Ministry of Education
National Basic Research Development Program of China
Publisher
Informa UK Limited
Subject
General Medicine,General Neuroscience
Link
https://www.tandfonline.com/doi/pdf/10.1080/00207454.2016.1236381
Reference34 articles.
1. Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency
2. Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families
3. Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia
4. Dopa-responsive dystonia: Mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa
Cited by 4 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. Dopa-Responsive Dystonia and Related Disorders;Movement Disorder Emergencies;2021-10-03
2. A Compound Heterozygote for GCH1 Mutation Represents a Case of Atypical Dopa-Responsive Dystonia;Journal of Molecular Neuroscience;2019-03-25
3. The quaternary structure of human tyrosine hydroxylase: effects of dystonia‐associated missense variants on oligomeric state and enzyme activity;Journal of Neurochemistry;2018-12-09
4. Study of GCH1 and TH genes in Chinese patients with Parkinson's disease;Neurobiology of Aging;2018-08
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