Autosomal dominantly inherited myopathy likely caused by the <i>TNNT1</i> variant p.(Asp65Ala)-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)

Published:2022-05-11 Issue:9 Volume:43 Page:1224-1233
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Holling Tess¹,Lisfeld Jasmin¹,Johannsen Jessika²,Matschke Jakob³,Song Feizhi³,Altmeppen Hermann Clemens³,Kutsche Kerstin¹^ORCID

Affiliation:

1. Institute of Human Genetics University Medical Center Hamburg‐Eppendorf Hamburg Germany

2. Children's Hospital University Medical Center Hamburg‐Eppendorf Hamburg Germany

3. Institute of Neuropathology University Medical Center Hamburg‐Eppendorf Hamburg Germany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24397

Reference48 articles.

1. Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1 )

2. Functional Basis of Three New Recessive Mutations of Slow Skeletal Muscle Troponin T Found in Non-Amish TNNT1 Nemaline Myopathies

3. N-Terminal Hypervariable Region of Muscle Type Isoforms of Troponin T Differentially Modulates the Affinity of Tropomyosin-Binding Site 1

4. Congenital myopathies: an update

5. ‘Amish Nemaline Myopathy’ in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene

Cited by 1 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. Congenital myopathies: pathophysiological mechanisms and promising therapies;Journal of Translational Medicine;2024-09-02

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