Ataxia with Isolated Vitamin E Deficiency: Heterogeneity of Mutations and Phenotypic Variability in a Large Number of Families
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference34 articles.
1. Familial isolated vitamin E deficiency: study of a multiplex family with a 5 year therapeutic followup;Amiel;J Inherit Metab Dis,1995
2. Human α-tocopherol transfer protein: cDNA cloning, expression and chromosomal localisation;Arita;Biochem J,1995
3. Regulation of mitochondrial iron accumulation by Yfh1, a putative homolog of frataxin;Babcock;Science,1997
4. Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping;Ben Hamida;Nat Genet,1993
5. Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families;Ben Hamida;Neurology,1993
Cited by 273 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. Natural Antioxidants: An Effective Strategy for the Treatment of Alzheimer’s Disease at the Early Stage;Journal of Agricultural and Food Chemistry;2024-05-14
2. Nutritional Value and Consumption Pattern of Indigenous Small Fish;Perspectives and Applications of Indigenous Small Fish in India;2024
3. Ataxia;Movement Disorders Phenomenology;2024
4. Genetic heterogeneity within a consanguineous family involving TTPA and SETX genes;Journal of Neurogenetics;2023-12-18
5. Atypical retinopathy in ataxia with vitamin E deficiency: report of a sibship;neurogenetics;2023-12-18
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