SCP2mutations and neurodegeneration with brain iron accumulation-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

SCP2mutations and neurodegeneration with brain iron accumulation

Published:2015-10-23 Issue:21 Volume:85 Page:1909-1911
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

Horvath Rita,Lewis-Smith David,Douroudis Konstantinos,Duff Jennifer,Keogh Michael,Pyle Angela,Fletcher Nicholas,Chinnery Patrick F.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Reference6 articles.

1. Mutations in the Gene Encoding Peroxisomal Sterol Carrier Protein X (SCPx) Cause Leukencephalopathy with Dystonia and Motor Neuropathy

2. Mouse models for peroxisome biogenesis defects and β-oxidation enzyme deficiencies

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

4. Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia

5. Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

Cited by 38 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. Disorders of fatty acid homeostasis;Journal of Inherited Metabolic Disease;2024-05

2. Case report: Episodic psychosis caused by a novel SCP2 splicing mutation;Frontiers in Neurology;2023-10-12

3. Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders;neurogenetics;2023-07-15

4. Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature;Molecular Genetics and Metabolism;2023-07

5. The Profiles and Functions of RNA Editing Sites Associated with High-Altitude Adaptation in Goats;International Journal of Molecular Sciences;2023-02-04

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