Modifier locus of the skeletal muscle involvement in Emery–Dreifuss muscular dystrophy-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Modifier locus of the skeletal muscle involvement in Emery–Dreifuss muscular dystrophy

Published:2010-11-10 Issue:2 Volume:129 Page:149-159
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Granger B.,Gueneau L.,Drouin-Garraud V.,Pedergnana V.,Gagnon F.,Ben Yaou R.,Tezenas du Montcel S.,Bonne G.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-010-0909-1.pdf

Reference49 articles.

1. Allison AC (1956) The sickle-cell and haemoglobin C genes in some African populations. Ann Hum Genet 21:67–89

2. Alonso S, Lopez S, Izagirre N, de la Rua C (2008) Overdominance in the human genome and olfactory receptor activity. Mol Biol Evol 25:997–1001

3. Ayroles JF, Hughes KA, Rowe KC, Reedy MM, Rodriguez-Zas SL, Drnevich JM, Caceres CE, Paige KN (2009) A genomewide assessment of inbreeding depression: gene number, function, and mode of action. Conserv Biol 23:920–930

4. Becane HM, Bonne G, Varnous S, Muchir A, Ortega V, Hammouda EH, Urtizberea JA, Lavergne T, Fardeau M, Eymard B, Weber S, Schwartz K, Duboc D (2000) High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation. Pacing Clin Electrophysiol 23:1661–1666

5. Ben Yaou R, Toutain A, Arimura T, Demay L, Massart C, Peccate C, Muchir A, Llense S, Deburgrave N, Leturcq F, Litim KE, Rahmoun-Chiali N, Richard P, Babuty D, Recan-Budiartha D, Bonne G (2007) Multitissular involvement in a family with LMNA and EMD mutations: role of digenic mechanism? Neurology 68:1883–1894

Cited by 32 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. LMNA‐related muscular dystrophy presenting as an inflammatory myopathy;Annals of the Child Neurology Society;2024-06-17

2. The Influence of a Genetic Variant in CCDC78 on LMNA-Associated Skeletal Muscle Disease;International Journal of Molecular Sciences;2024-04-30

3. 253rd ENMC international workshop: Striated muscle laminopathies - natural history and clinical trial readiness. 24–26 June 2022, Hoofddorp, the Netherlands;Neuromuscular Disorders;2023-06

4. Characterization of cardiac involvement in children with LMNA-related muscular dystrophy;Frontiers in Cell and Developmental Biology;2023-03-10

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