Reducing body myopathy – A new pathogenic FHL1 variant and literature review-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Reducing body myopathy – A new pathogenic FHL1 variant and literature review

Published:2021-09 Issue:9 Volume:31 Page:847-853
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Mota Isabella Araujo,Correia Carolina da Cunha,Fontana Pedro Nogueira,Carvalho Alzira Alves de Siqueira

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference24 articles.

1. A case of adult-onset reducing body myopathy presenting a novel clinical feature, asymmetrical involvement of the sternocleidomastoid and trapezius muscles;Fujii;J Neurol Sci,2014

2. Novel FHL1 mutation in a family with reducing body myopathy;Schreckenbach;Muscle Nerve,2013

3. Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy;Schessl;J Clin Invest,2008

4. Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1;Schessl;Brain,2009

5. Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders;Malfatti;J Neuropathol Exp Neurol,2013

Cited by 4 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 role of FHL1 in tumors;Gene;2024-06

2. VE-822 upregulates the deubiquitinase OTUD1 to stabilize FHL1 to inhibit the progression of lung adenocarcinoma;Cellular Oncology;2023-03-16

3. Identification of novel FHL1 mutations associated with X-linked scapuloperoneal myopathy in unrelated Chinese patients;Journal of Human Genetics;2023-03-03

4. VE-822 upregulates the deubiquitinase OTUD1 to stabilize FHL1 to inhibit the progression of lung adenocarcinoma;2023-01-03

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