Novel compound heterozygous PANK2 gene mutations in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Novel compound heterozygous PANK2 gene mutations in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration

Published:2018-08-15 Issue:12 Volume:128 Page:1109-1113
ISSN:0020-7454
Container-title:International Journal of Neuroscience
language:en
Short-container-title:International Journal of Neuroscience

Author:

Cheng Yuan¹²,Liu Yu-tao¹,Yang Zhi-hua¹²,Yang Jing¹,Shi Chang-he¹,Xu Yu-ming¹

Affiliation:

1. Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, PR China;

2. Institute of Clinical Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, PR China

Funder

National Natural Science Foundation of China

Medical Science and Technique Foundation of Henan Province

Key Scientific Research Projects of Universities in Henan Province

Publisher

Informa UK Limited

Subject

General Medicine,General Neuroscience

Link

https://www.tandfonline.com/doi/pdf/10.1080/00207454.2018.1483364

Reference18 articles.

1. Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories

2. Clinical and genetic delineation of neurodegeneration with brain iron accumulation

3. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome

4. Genetic, Clinical, and Radiographic Delineation of Hallervorden–Spatz Syndrome

5. Young-Onset Parkinsonism in a Hong Kong Chinese Man With Adult-Onset Hallervorden–Spatz Syndrome

Cited by 16 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. Case report: Novel compound heterozygous variants in the PANK2 gene in a Chinese patient diagnosed with ASD and ADHD;Frontiers in Neurology;2023-04-17

2. Psychiatric symptoms in an adolescent reveal a novel compound heterozygous mutation of the PANK2 gene in the atypical PKAN syndrome;Psychiatric Genetics;2021-04-12

3. PANK2 p.A170fs：a novel pathogenetic mutation, compound with PANK2 p.R440P, causing pantothenate kinase Associated neurodegeneration in a Chinese family;International Journal of Neuroscience;2020-10-14

4. Atypical pantothenate kinase-associated neurodegeneration with PANK2 mutations : clinical description and a review of the literature;Neurocase;2020-04-20

5. Bee+: A 95-mg Four-Winged Insect-Scale Flying Robot Driven by Twinned Unimorph Actuators;IEEE Robotics and Automation Letters;2019-10

同舟云学术

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