PNKP deficiency mimicking a benign hereditary chorea: The misleading presentation of a neurodegenerative disorder
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Geriatrics and Gerontology,Neurology
Reference7 articles.
1. Phosphorylation of PNKP by ATM prevents its proteasomal degradation and enhances resistance to oxidative stress;Parsons;Nucleic Acids Res.,2012
2. Rare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia-oculomotor apraxia 4 and pilocytic astrocytoma;Sholz;Clin. Genet.,2018
3. PNKP mutations identified by whole-exome sequencing in a Norwegian patient with sporadic ataxia and edema;Tzoulis;Cerebellum,2017
4. Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations;Poulton;Neurogenetics,2013
5. The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25;Leal;Neurogenetics,2018
Cited by 8 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. Differential diagnosis of chorea (guidelines of the German Neurological Society);Neurological Research and Practice;2023-11-23
2. Characteristics of epilepsy secondary to mutations of PNKP gene;NEUROLOGIA;2021
3. Características de la epilepsia secundaria a alteraciones en el gen PNKP;Neurología;2021-11
4. Characteristics of epilepsy secondary to mutations in the PNKP gene;Neurología (English Edition);2021-11
5. Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain;European Journal of Human Genetics;2021-10-25
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