Proteomic characterization of aggregate components in an intrafamilial variable FHL1-associated myopathy-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Proteomic characterization of aggregate components in an intrafamilial variable FHL1-associated myopathy

Published:2013-05 Issue:5 Volume:23 Page:418-426
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Feldkirchner Sarah,Walter Maggie C.,Müller Stefan,Kubny Christiana,Krause Sabine,Kress Wolfram,Hanisch Franz-Georg,Schoser Benedikt,Schessl Joachim

Publisher

Elsevier BV

Subject

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

Reference26 articles.

1. Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features;Cowling;Neuromuscul Disord,2011

2. Mutations of the FHL1 gene cause Emery–Dreifuss muscular dystrophy;Gueneau;Am J Hum Genet,2009

3. Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation;Knoblauch;Ann Neurol,2010

4. X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1;Quinzii;Am J Hum Genet,2008

5. Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1;Schessl;Neuropediatrics,2010

Cited by 26 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. A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy;Annals of Clinical and Translational Neurology;2023-07-22

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

3. Reducing body myopathy – A new pathogenic FHL1 variant and literature review;Neuromuscular Disorders;2021-09

4. Candidate gene expression and coding sequence variants in Warmblood horses with myofibrillar myopathy;Equine Veterinary Journal;2020-06-25

5. FHL1-related myopathy may not be classified by reducing bodies in muscle biopsy;Neuromuscular Disorders;2020-02

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