Movement disorders in cerebrotendinous xanthomatosis
Author:
Funder
Radboud University Medical Center
ZonMW
Hersenstichting
Bioblast Pharma
Publisher
Elsevier BV
Subject
Clinical Neurology,Geriatrics and Gerontology,Neurology
Reference50 articles.
1. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis;Cali;J. Biol. Chem.,1991
2. Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis;Verrips;Arch. Neurol.,2000
3. Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis;Verrips;Brain,2000
4. Movement disorders and inborn errors of metabolism in adults: a diagnostic approach;Sedel;J. Inherit. Metab. Dis.,2008
5. Movement disorders in neuro-metabolic diseases;Gouider-Khouja;Eur. J. Paediatr. Neurol.,2010
Cited by 34 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. Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals;Molecular Genetics and Metabolism;2024-06
2. Clinical and Imaging Profile of Patients with Cerebrotendinous Xanthomatosis – a Video Case Series from India;Tremor and Other Hyperkinetic Movements;2024
3. Ataxia;Movement Disorders Phenomenology;2024
4. Cholestanol accelerates α-synuclein aggregation and spreading by activating asparagine endopeptidase;JCI Insight;2023-11-08
5. Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism;Tremor and Other Hyperkinetic Movements;2023-10-06
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