• 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

Spinocerebellar ataxia type 21 (TMEM240) with tremor and dystonia.

作者信息

Camargo Carlos Henrique Ferreira, Piva-Silva Aline K C, Munhoz Renato Puppi, Raskin Salmo, Teive Hélio Afonso Ghizoni

机构信息

Neurological Diseases Group, Postgraduate Program of Internal Medicine, Department of Internal Medicine, Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil.

Movement Disorders Unit, Neurology Service, Department of Internal Medicine, Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil.

出版信息

Eur J Neurol. 2021 Aug;28(8):e63-e64. doi: 10.1111/ene.14944. Epub 2021 Jun 23.

DOI:10.1111/ene.14944
PMID:34053174
Abstract
摘要

相似文献

1
Spinocerebellar ataxia type 21 (TMEM240) with tremor and dystonia.伴有震颤和肌张力障碍的21型脊髓小脑共济失调（TMEM240）
Eur J Neurol. 2021 Aug;28(8):e63-e64. doi: 10.1111/ene.14944. Epub 2021 Jun 23.
2
Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated p.Pro170Leu Variant.肌阵挛和肌张力障碍作为携带SCA21相关p.Pro170Leu变异患者反复出现的临床表现特征
Tremor Other Hyperkinet Mov (N Y). 2024 Apr 10;14:16. doi: 10.5334/tohm.858. eCollection 2024.
3
Pearls & Oy-sters: SCA21 Due to Variation Presenting as Myoclonus Dystonia Syndrome.珍珠与牡蛎：表现为肌阵挛-肌张力障碍综合征的 SCA21 变异所致
Neurology. 2022 Sep 20;99(12):531-534. doi: 10.1212/WNL.0000000000201015. Epub 2022 Jul 8.
4
The First Korean Family of Spinocerebellar Ataxia 21 (ATX-TMEM240) with Facial Dystonic Phenotype.首例具有面部肌张力障碍表型的韩国脊髓小脑共济失调21型（ATX-TMEM240）家系。
Cerebellum. 2023 Feb;22(1):159-161. doi: 10.1007/s12311-022-01368-6. Epub 2022 Jan 10.
5
Dystonic Tremor as Main Clinical Manifestation of SCA21.以肌张力障碍性震颤为主要临床表现的 SCA21。
Mov Disord Clin Pract. 2024 Nov;11(11):1445-1450. doi: 10.1002/mdc3.14220. Epub 2024 Sep 28.
6
A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21.基于下一代测序的大型共济失调患者队列分析，细化了与脊髓小脑性共济失调 21 相关的临床谱。
Eur J Neurol. 2021 Aug;28(8):2784-2788. doi: 10.1111/ene.14868. Epub 2021 May 27.
7
Lysosomal dysfunction and early glial activation are involved in the pathogenesis of spinocerebellar ataxia type 21 caused by mutant transmembrane protein 240.溶酶体功能障碍和早期神经胶质细胞激活参与了突变跨膜蛋白 240 引起的脊髓小脑性共济失调 21 型的发病机制。
Neurobiol Dis. 2018 Dec;120:34-50. doi: 10.1016/j.nbd.2018.08.022. Epub 2018 Sep 2.
8
The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.SCA21（ATX-TMEM240）运动障碍谱：3 个新家族和文献系统回顾。
Parkinsonism Relat Disord. 2019 May;62:215-220. doi: 10.1016/j.parkreldis.2018.11.027. Epub 2018 Nov 29.
9
Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12.痉挛性发声障碍作为12型脊髓小脑共济失调的首发症状
Neurogenetics. 2019 Aug;20(3):161-164. doi: 10.1007/s10048-019-00580-7. Epub 2019 Jun 13.
10
The Neurodevelopmental and Motor Phenotype of SCA21 (ATX-TMEM240).SCA21（ATX-TMEM240）的神经发育和运动表型。
J Child Neurol. 2020 Dec;35(14):953-962. doi: 10.1177/0883073820943488. Epub 2020 Jul 24.

引用本文的文献

1
Dystonic Tremor as Main Clinical Manifestation of SCA21.以肌张力障碍性震颤为主要临床表现的 SCA21。
Mov Disord Clin Pract. 2024 Nov;11(11):1445-1450. doi: 10.1002/mdc3.14220. Epub 2024 Sep 28.
2
Tremor in Spinocerebellar Ataxia: A Scoping Review.脊髓小脑共济失调震颤：范围综述。
Tremor Other Hyperkinet Mov (N Y). 2024 Jun 20;14:31. doi: 10.5334/tohm.911. eCollection 2024.
3
Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated p.Pro170Leu Variant.肌阵挛和肌张力障碍作为携带SCA21相关p.Pro170Leu变异患者反复出现的临床表现特征
Tremor Other Hyperkinet Mov (N Y). 2024 Apr 10;14:16. doi: 10.5334/tohm.858. eCollection 2024.
4
Roles, molecular mechanisms, and signaling pathways of TMEMs in neurological diseases.跨膜蛋白（TMEMs）在神经疾病中的作用、分子机制及信号通路
Am J Transl Res. 2021 Dec 15;13(12):13273-13297. eCollection 2021.