Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins

Published:2006-04-03 Issue:5 Volume:129 Page:1260-1268
ISSN:1460-2156
Container-title:Brain
language:en
Short-container-title:

Author:

Muntoni F.,Bonne G.,Goldfarb L. G.,Mercuri E.,Piercy R. J.,Burke M.,Yaou R. Ben,Richard P.,Récan D.,Shatunov A.,Sewry C. A.,Brown S. C.

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/129/5/1260/933863/awl062.pdf

Reference48 articles.

1. Becane HM, Bonne G, Varnous S, Muchir A, Ortega V, Hammouda EH, et al. High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation. Pacing Clin Electrophysiol2000; 23: 1661–6.

2. Bialer MG, McDaniel NL, Kelly TE. Progression of cardiac disease in Emery-Dreifuss muscular dystrophy. Clin Cardiol1991; 14: 411–6.

3. Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet1994; 8: 323–7.

4. Bonne G, Levy N (2003) LMNA mutations in atypical Werner's syndrome. Lancet362: 1585–6; author reply 1586.

5. Bonne G, Di Barletta MR, Varnous S, Becane HM, Hammouda EH, Merlini L, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet1999; 21: 285–8.

Cited by 104 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. Unveiling New Insights: Reinterpreting DES Mutation, p.Arg383His, through a Study of an Iranian Family with Isolated Hypertrophic Cardiomyopathy, Implication for Phenotype‒Genotype Correlation Analysis;2024-01-08

2. 253rd ENMC international workshop: Striated muscle laminopathies - natural history and clinical trial readiness. 24–26 June 2022, Hoofddorp, the Netherlands;Neuromuscular Disorders;2023-06

3. LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation;Frontiers in Genetics;2023-03-24

4. Emerging Hallmarks of Mitochondrial Biochemistry in Cardiac Trabecular Morphogenesis and Left Ventricular Noncompaction (LVNC);New Insights on Cardiomyopathy [Working Title];2022-12-20

5. Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary;Cells;2022-12-15

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