Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy

Published:2016-10-29 Issue:9 Volume:54 Page:7212-7223
ISSN:0893-7648
Container-title:Molecular Neurobiology
language:en
Short-container-title:Mol Neurobiol

Author:

Evilä Anni,Palmio Johanna,Vihola Anna,Savarese Marco,Tasca Giorgio,Penttilä Sini,Lehtinen Sara,Jonson Per Harald,De Bleecker Jan,Rainer Peter,Auer-Grumbach Michaela,Pouget Jean,Salort-Campana Emmanuelle,Vilchez Juan J.,Muelas Nuria,Olive Montse,Hackman Peter,Udd Bjarne

Funder

Folkhälsan Research Foundation

Jane ja Aatos Erkon Säätiö

Association Française contre les Myopathies (FR)

Suomen Akatemia

Sigrid Jusélius Foundation

Liv och Hälsa Foundation

The Finnish Cultural Foundation

Austrian Science Fund

Tampere University Hospital Research Funds

Fondo de Investigaciones Sanitarias—Instituto de Salud Carlos III

European Regional Development Fund

Publisher

Springer Science and Business Media LLC

Subject

Neuroscience (miscellaneous),Cellular and Molecular Neuroscience,Neurology

Link

http://link.springer.com/article/10.1007/s12035-016-0242-3/fulltext.html

Reference24 articles.

1. Udd B, Kääriäinen H, Somer H (1991) Muscular dystrophy with separate clinical phenotypes in a large family. Muscle Nerve 14:1050–1058

2. Udd B, Partanen J, Halonen P, Falck B, Hakamies L, Heikkilä H, Ingo S, Kalimo H et al (1993) Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients. Arch Neurol 50:604–608

3. Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, Labeit S, Witt C et al (2002) Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet 71:492–500

4. Udd B (1992) Limb-girdle type muscular dystrophy in a large family with distal myopathy: homozygous manifestation of a dominant gene? J Med Genet 29:383–389

5. Udd B, Rapola J, Nokelainen P, Arikawa E, Somer H (1992) Nonvacuolar myopathy in a large family with both late adult onset distal myopathy and severe proximal muscular dystrophy. J Neurol Sci 113:214–221

Cited by 38 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. Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies;Neurology;2024-08-27

2. Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies;Scientific Reports;2024-03-04

3. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy;Nature Genetics;2024-03

4. Truncated titin is structurally integrated into the human dilated cardiomyopathic sarcomere;Journal of Clinical Investigation;2024-01-16

5. Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin;WIREs Mechanisms of Disease;2023-12-29

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