A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive and dopa responsive dystonia.-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive and dopa responsive dystonia.

Published:1997-04-01 Issue:4 Volume:62 Page:420-421
ISSN:0022-3050
Container-title:Journal of Neurology, Neurosurgery & Psychiatry
language:en
Short-container-title:Journal of Neurology, Neurosurgery & Psychiatry

Author:

Beyer K,Lao-Villadoniga J I,Vecino-Bilbao B,Cacabelos R,De la Fuente-Fernandez R

Publisher

BMJ

Subject

Psychiatry and Mental health,Neurology (clinical),Surgery

Reference2 articles.

1. Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity;Bandmann 0, Nygaard TG, Surtees R;Human Mol Genet,1996

2. Dopa-responsive dystonia: clinical characteristics and definition;Nygaard, T.G.; Snow, B.J.; Fahn, S.; Calne, D.B.,1993

Cited by 19 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. Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease;Journal of Neurology;2011-05-10

2. Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Córdoba (southern Spain);Journal of Neurology;2009-06-16

3. Dopa-responsive infantile hypokinetic rigid syndrome due to dominant guanosine triphosphate cyclohydrolase 1 deficiency;Journal of the Neurological Sciences;2007-05

4. The long-term response to levodopa in dopa-responsive dystonia;Parkinsonism & Related Disorders;2001-09

5. New nonsense mutation in the GTP-cyclohydrolase I gene in L-DOPA responsive dystonia-parkinsonism;Movement Disorders;2001-03

同舟云学术

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