Recurrent null mutation in SPG20 leads to Troyer syndrome-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Recurrent null mutation in SPG20 leads to Troyer syndrome

Published:2015-10 Issue:5 Volume:29 Page:315-318
ISSN:0890-8508
Container-title:Molecular and Cellular Probes
language:en
Short-container-title:Molecular and Cellular Probes

Author:

Tawamie Hasan,Wohlleber Eva,Uebe Steffen,Schmäl Christine,Nöthen Markus M.,Abou Jamra Rami

Funder

Deutscher Akademischer Austauschdienst

Deutsche Forschungsgemeinschaft

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology

Reference22 articles.

1. Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity;Abou Jamra;Eur. J. Hum. Genet.,2011

2. Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism?;Bakowska;Arch Neurol.,2008

3. The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting;Cross;Arch Neurol.,1967

4. A role for ubiquitin ligases and Spartin/SPG20 in lipid droplet turnover;Eastman;J. Cell. Biol.,2009

5. Troyer Syndrome: report of the first “non-Amish” sibship and review;Farag;Am. J. Med. Genet.,1994

Cited by 14 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. Developmental and epileptic encephalopathy produced by the ATP1A2 mutation;S.S. Korsakov Journal of Neurology and Psychiatry;2024

2. Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q;Open Biology;2023-07

3. The perinatal phenotype of Troyer syndrome: Case report and literature review;American Journal of Medical Genetics Part A;2022-09-22

4. Methylation Heterogeneity and Gene Expression of SPG20 in Solid Tumors;Genes;2022-05-12

5. KLF4, DAPK1 and SPG20 promoter methylation is not affected by DNMT1 silencing and hypomethylating drugs in lymphoma cells;Oncology Reports;2021-11-08

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