A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy

Published:2024-01 Issue: Volume:34 Page:32-40
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Lehtokari Vilma-Lotta^ORCID,Sagath Lydia,Davis Mark,Ho Desiree,Kiiski Kirsi,Kettunen Kaisa,Demczko Matthew,Stein Riki,Vatta Matteo,Winder Thomas L.,Shohet Adi,Orenstein Naama,Krcho Peter,Bohuš Peter,Huovinen Sanna,Udd Bjarne,Pelin Katarina,Laing Nigel G.,Wallgren-Pettersson Carina

Funder

Helsingin ja Uudenmaan Sairaanhoitopiiri

Muscular Dystrophy UK

Medicinska Understödsföreningen Liv och Hälsa

Academy of Finland

Jane ja Aatos Erkon Säätiö

Sigrid Juséliuksen Säätiö

University of Helsinki

Stiftelsen Dorothea Olivia Karl Walter och Jarl Walter Perkléns minne

Finska Läkaresällskapet

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference31 articles.

1. Ricoy J.R., et al. Nemaline myopathy caused by absence of alpha-skeletal muscle actin;Nowak;Ann Neurol,2007

2. Donner K., et al. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy;Nowak;Nat Genet,1999

3. Kobayashi Y., et al. Actin mutations are one cause of congenital fibre type disproportion;Laing;Ann Neurol,2004

4. Romero N., et al. Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1);Sparrow;Neuromuscul Disord,2003

5. Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1);Sewry C.A.Holton;Neuromuscul Disord,2015

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. Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards;Journal of Neurology, Neurosurgery & Psychiatry;2024-05-14

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