Expanding the Phenotype of Dystonia‐Deafness Syndrome Caused by ACTB Gene Mutation-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Expanding the Phenotype of Dystonia‐Deafness Syndrome Caused by ACTB Gene Mutation

Published:2019-11-14 Issue:1 Volume:7 Page:86-87
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Mov Disord Clin Pract

Author:

Freitas Julian Letícia¹,Vale Thiago Cardoso²^ORCID,Barsottini Orlando G.P.¹,Pedroso José Luiz¹

Affiliation:

1. Division of General Neurology and Ataxia Unit, Department of Neurology Universidade Federal de São Paulo São Paulo Brazil

2. Movement Disorders Unit, Service of Neurology University Hospital, Universidade Federal de Juiz de Fora Juiz de Fora Brazil

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mdc3.12854

Reference5 articles.

1. The syndrome of deafness-dystonia: Clinical and genetic heterogeneity

2. Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome.

3. Molecular mechanisms of disease-related human β-actin mutations p.R183W and p.E364K

4. A Mutation of β-Actin That Alters Depolymerization Dynamics Is Associated with Autosomal Dominant Developmental Malformations, Deafness, and Dystonia

5. Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation

Cited by 13 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. Classification of human actin pathological variants usingC. elegansCRISPR-generated models;2024-07-22

2. Subacute Onset of “Chorea” with Cervical Dystonia;Movement Disorders Clinical Practice;2024-06-11

3. Expansion of the prenatal phenotype of Baraitser–Winter syndrome: Presentation of two cases of multiple congenital anomaly syndrome;American Journal of Medical Genetics Part A;2024-05-24

4. Hearing Loss in Baraitser–Winter Syndrome: Case Reports and Review of the Literature;Journal of Clinical Medicine;2024-03-05

5. β-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination;The Journal of Immunology;2024-02-05

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