Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations

Author:

Savarese Marco12,Palmio Johanna3,Poza Juan José4,Weinberg Jan5,Olive Montse6,Cobo Ana Maria7,Vihola Anna12,Jonson Per Harald12ORCID,Sarparanta Jaakko12,García‐Bragado Federico4,Urtizberea Jon Andoni7,Hackman Peter12,Udd Bjarne1238

Affiliation:

1. Folkhälsan Research Center Helsinki Finland

2. MedicumUniversity of Helsinki Helsinki Finland

3. Neuromuscular Research CenterTampere University Hospital and Tampere University Tampere Finland

4. Department of NeurologyDonostia University Hospital San Sebastián Spain

5. Department of NeurologyKarolinska University Hospital Stockholm Sweden

6. Department of Pathology, Neuropathology and Neuromuscular UnitBiomedical Research Institute of Bellvitge, Bellvitge University Hospital Hospitalet de Llobregat Spain

7. Neuromuscular Diseases Center of CompetenceMarin Hospital, Public Hospital Network of Paris Hendaye France

8. Department of NeurologyVaasa Central Hospital Vaasa Finland

Funder

Finska Läkaresällskapet

Jane ja Aatos Erkon Säätiö

Magnus Ehrnroothin Säätiö

Academy of Finland

Instituto de Salud Carlos III

Suomen Lääketieteen Säätiö

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Reference23 articles.

Cited by 19 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. Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy;Annals of Clinical and Translational Neurology;2024-02-04

2. RareACTN2Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation;2024-01-17

3. Dynamic chromatin architectures provide insights into the genetics of cattle myogenesis;Journal of Animal Science and Biotechnology;2023-04-14

4. Distal myopathy;Motor System Disorders, Part I: Normal Physiology and Function and Neuromuscular Disorders;2023

5. Mutation update for the ACTN2 gene;Human Mutation;2022-09-27

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