Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,Neurology
Link
http://link.springer.com/content/pdf/10.1007/s12311-015-0749-6.pdf
Reference9 articles.
1. Samuel M, Torun N, Tuite PJ, Sharpe JA, Lang AE. Progressive ataxia and palatal tremor (PAPT): clinical and MRI assessment with review of palatal tremors. Brain. 2004;127(6):1252–68.
2. Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain. 2006;129(7):1674–84.
3. Kinghorn KJ, Kaliakatsos M, Blakely EL, Taylor RW, Rich P, et al. Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations. J Neurol. 2013;260(1):3–9.
4. Arkadir D, Meiner V, Karni A, Lossos A. Teaching NeuroImages: hypertrophic olivary degeneration in a young man with POLG gene mutation. Neurology. 2015;84(8), e59.
5. Synofzik M, Srulijes K, Godau J, Berg D, Schöls L. Characterizing POLG ataxia: clinics, electrophysiology and imaging. Cerebellum. 2012;11(4):1002–11.
Cited by 15 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. Four New Cases of Progressive Ataxia and Palatal Tremor (PAPT) and a Literature Review;Clinical and Translational Neuroscience;2023-10-13
2. A Review of Brain and Pituitary Gland MRI Findings in Patients with Ataxia and Hypogonadism;The Cerebellum;2023-05-08
3. Complex neurological and multisystem presentations in mitochondrial disease;Mitochondrial Diseases;2023
4. Objective tinnitus secondary to palatal tremor: Two case reports and brief literature review;Journal of Otology;2021-11
5. POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings;Brain Sciences;2020-10-23
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