The autosomal recessively inherited progressive myoclonus epilepsies and their genes
Author:
Publisher
Wiley
Subject
Clinical Neurology,Neurology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1528-1167.2009.02117.x/fullpdf
Reference91 articles.
1. Palmitoyl protein thioesterase 1 (PPT1) deficiency causes endocytic defects connected to abnormal saposin processing;Ahtiainen;Exp Cell Res,2006
2. Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations;Alakurtti;Eur J Hum Genet,2005
3. Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder;Badhwar;Brain,2004
4. A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome;Balreira;Hum Mol Genet,2008
5. A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping;Berkovic;Brain,2005
Cited by 92 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. Normal and abnormal glycogen structure – A review;Carbohydrate Polymers;2024-08
2. Impaired malin expression and interaction with partner proteins in Lafora disease;Journal of Biological Chemistry;2024-05
3. Metabolic causes of pediatric developmental & epileptic encephalopathies (DEE)- genetic variant analysis in a south Indian cohort;Seizure: European Journal of Epilepsy;2024-02
4. The involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis;Neurobiology of Disease;2023-09
5. Cortico-muscular coherence and brain networks in familial adult myoclonic epilepsy and progressive myoclonic epilepsy;Clinical Neurophysiology;2023-07
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