• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

ADCY5-Related Dyskinesia: A Genetic Cause of Early-Onset Chorea-Report of Two Cases and a Novel Mutation.

作者信息

Padmanabha Hansashree, Ray Somdattaa, Mahale Rohan, Arunachal Gautham, Singhi Pratibha, Mailankody Pooja, Pavagada Mathuranath

机构信息

Department of Neurology, NIMHANS, Bengaluru, Karnataka, India.

Human Genetics, NIMHANS, Bengaluru, Karnataka, India.

出版信息

Ann Indian Acad Neurol. 2021 Sep-Oct;24(5):837-838. doi: 10.4103/aian.AIAN_1012_20. Epub 2021 Mar 27.

DOI:10.4103/aian.AIAN_1012_20
PMID:35002175
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8680907/
Abstract
摘要

相似文献

1
ADCY5-Related Dyskinesia: A Genetic Cause of Early-Onset Chorea-Report of Two Cases and a Novel Mutation.腺苷酸环化酶5相关运动障碍：早发性舞蹈症的一个遗传病因——两例报告及一个新突变
Ann Indian Acad Neurol. 2021 Sep-Oct;24(5):837-838. doi: 10.4103/aian.AIAN_1012_20. Epub 2021 Mar 27.
2
A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.一种新发的ADCY5突变导致早发性常染色体显性遗传性舞蹈病和肌张力障碍。
Mov Disord. 2015 Mar;30(3):423-7. doi: 10.1002/mds.26115. Epub 2014 Dec 27.
3
ADCY5 mutations are another cause of benign hereditary chorea.腺苷酸环化酶5（ADCY5）基因突变是良性遗传性舞蹈病的另一个病因。
Neurology. 2015 Jul 7;85(1):80-8. doi: 10.1212/WNL.0000000000001720. Epub 2015 Jun 17.
4
ADCY5-related dyskinesia: a case report.腺苷酸环化酶5相关运动障碍：一例报告
Neurol Res Pract. 2022 Aug 15;4(1):39. doi: 10.1186/s42466-022-00204-w.
5
ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.与腺苷酸环化酶5相关的运动障碍：更广泛的谱系及基因型-表型相关性
Neurology. 2015 Dec 8;85(23):2026-35. doi: 10.1212/WNL.0000000000002058. Epub 2015 Nov 4.
6
Phenotypic insights into ADCY5-associated disease.对ADCY5相关疾病的表型见解。
Mov Disord. 2016 Jul;31(7):1033-40. doi: 10.1002/mds.26598. Epub 2016 Apr 8.
7
Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability.同源性 ADCY5 突变导致早发性运动障碍伴严重智力残疾。
Neurol Sci. 2021 Jul;42(7):2975-2978. doi: 10.1007/s10072-021-05152-y. Epub 2021 Mar 11.
8
Sleep in -Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements.睡眠相关运动障碍：异常运动导致的长时间觉醒。
J Clin Sleep Med. 2019 Jul 15;15(7):1021-1029. doi: 10.5664/jcsm.7886.
9
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.与腺苷酸环化酶5相关的运动障碍：一组儿科患者的发病率、病程及表型变异性
Parkinsonism Relat Disord. 2017 Aug;41:37-43. doi: 10.1016/j.parkreldis.2017.05.004. Epub 2017 May 10.
10
Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series.采用脑深部电刺激治疗与ADCY5相关的肌张力障碍、舞蹈症及运动亢进性疾病：一项多中心病例系列研究
J Child Neurol. 2016 Jul;31(8):1027-35. doi: 10.1177/0883073816635749. Epub 2016 Apr 6.

引用本文的文献

1
Scoping Review on ADCY5-Related Movement Disorders.关于腺苷酸环化酶5相关运动障碍的范围综述
Mov Disord Clin Pract. 2023 Jun 6;10(7):1048-1059. doi: 10.1002/mdc3.13796. eCollection 2023 Jul.

本文引用的文献

1
Long-Term Follow-Up and Evolution of -From a Ballistic to Dystonic Phenotype.从弹道型到张力障碍型表型的长期随访及演变
Mov Disord Clin Pract. 2020 Sep 14;7(8):985-986. doi: 10.1002/mdc3.13069. eCollection 2020 Nov.
2
Some New and Unexpected Tauopathies in Movement Disorders.运动障碍中的一些新的和意想不到的tau蛋白病
Mov Disord Clin Pract. 2020 Aug 3;7(6):616-626. doi: 10.1002/mdc3.12995. eCollection 2020 Aug.
3
ADCY5-Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder.腺苷酸环化酶5相关运动障碍：改善对一种不断演变疾病的临床检测
Mov Disord Clin Pract. 2019 Aug 19;6(7):512-520. doi: 10.1002/mdc3.12816. eCollection 2019 Sep.
4
Multiple Causes of Pediatric Early Onset Chorea-Clinical and Genetic Approach.小儿早发性舞蹈症的多种病因——临床与遗传学方法
Neuropediatrics. 2018 Aug;49(4):246-255. doi: 10.1055/s-0038-1645884. Epub 2018 May 25.
5
Parental influence on human germline de novo mutations in 1,548 trios from Iceland.冰岛 1548 个三亲子组中胚系新生突变的亲代影响。
Nature. 2017 Sep 28;549(7673):519-522. doi: 10.1038/nature24018. Epub 2017 Sep 20.
6
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.与腺苷酸环化酶5相关的运动障碍：一组儿科患者的发病率、病程及表型变异性
Parkinsonism Relat Disord. 2017 Aug;41:37-43. doi: 10.1016/j.parkreldis.2017.05.004. Epub 2017 May 10.
7
ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.与腺苷酸环化酶5相关的运动障碍：更广泛的谱系及基因型-表型相关性
Neurology. 2015 Dec 8;85(23):2026-35. doi: 10.1212/WNL.0000000000002058. Epub 2015 Nov 4.
8
A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.一种新发的ADCY5突变导致早发性常染色体显性遗传性舞蹈病和肌张力障碍。
Mov Disord. 2015 Mar;30(3):423-7. doi: 10.1002/mds.26115. Epub 2014 Dec 27.
9
Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.常染色体显性遗传性运动障碍和面部肌束震颤：单外显子测序鉴定出腺苷酸环化酶5的突变
Arch Neurol. 2012 May;69(5):630-5. doi: 10.1001/archneurol.2012.54.
10
Definition and classification of hyperkinetic movements in childhood.儿童多动运动的定义和分类。
Mov Disord. 2010 Aug 15;25(11):1538-49. doi: 10.1002/mds.23088.