Complex single gene disorders and epilepsy
Author:
Publisher
Wiley
Subject
Clinical Neurology,Neurology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1528-1167.2012.03617.x/fullpdf
Reference113 articles.
1. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl- CpG-binding protein 2;Amir;Nat Genet,1999
2. Puppet children: a report of three cases;Angelman;Dev Med Child Neurol,1965
3. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients;Archer;J Med Genet,2006
4. FOXG1 is responsible for the congenital variant of Rett syndrome;Ariani;Am J Hum Genet,2008
5. Cell cycle-regulated phosphorylation of hamartin, the product of the tuberous sclerosis complex 1 gene, by cyclin-dependent kinase 1/cyclin B;Astrinidis;J Biol Chem,2003
Cited by 24 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. Identifying co-morbidities and risk in people with epilepsy: The Maltese experience;Epilepsy & Behavior;2024-06
2. Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex;Orphanet Journal of Rare Diseases;2024-02-26
3. Genetic abnormality of cytochrome-P2C9*3 allele predisposes to epilepsy and phenytoin-induced adverse drug reactions: genotyping findings of cytochrome-alleles in the North Indian population;Future Journal of Pharmaceutical Sciences;2022-10-27
4. Cadherins and the pathogenesis of epilepsy;Cell Biochemistry and Function;2022-04-08
5. Classifying epilepsy pragmatically: Past, present, and future;Journal of the Neurological Sciences;2021-08
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