MYORG Mutations: a Major Cause of Recessive Primary Familial Brain Calcification-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

MYORG Mutations: a Major Cause of Recessive Primary Familial Brain Calcification

Published:2019-08-23 Issue:10 Volume:19 Page:
ISSN:1528-4042
Container-title:Current Neurology and Neuroscience Reports
language:en
Short-container-title:Curr Neurol Neurosci Rep

Author:

Bauer Max,Rahat Dolev,Zisman Elad,Tabach Yuval,Lossos Alexander,Meiner Vardiella,Arkadir David

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,General Neuroscience

Link

http://link.springer.com/content/pdf/10.1007/s11910-019-0986-z.pdf

Reference31 articles.

1. Manyam BV. What is and what is not ‘Fahr’s disease. Parkinsonism Relat Disord. 2005;11(2):73–80.

2. Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, et al. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet. 2012;44(3):254–6.

3. Nicolas G, Pottier C, Maltete D, Coutant S, Rovelet-Lecrux A, Legallic S, et al. Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology. 2013;80(2):181–7.

4. Keller A, Westenberger A, Sobrido MJ, García-Murias M, Domingo A, Sears RL, et al. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet. 2013;45(9):1077–82.

5. Legati A, Giovannini D, Nicolas G, López-Sánchez U, Quintáns B, Oliveira JRM, et al. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. Nat Genet. 2015;47(6):579–81.

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. The Association between Intracranial Calcifications and Symptoms in Patients with Primary Familial Brain Calcification;Journal of Clinical Medicine;2024-01-31

2. Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review;Molecular Genetics & Genomic Medicine;2023-09-07

3. Knockdown of myorg leads to brain calcification in zebrafish;Molecular Brain;2022-07-23

4. Defect in cytosolic Neu2 sialidase abrogates lipid metabolism and impairs muscle function in vivo;Scientific Reports;2022-02-25

5. Parkinsonism and ataxia;Journal of the Neurological Sciences;2022-02

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