• 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

Correspondence on "Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment" by Roux et al.

作者信息

Park Joohyun, Deininger Natalie, Rautenberg Maren, Saft Carsten, Harmuth Florian, Sturm Marc, Riess Olaf, Schöls Ludger, Synofzik Matthis, Haack Tobias B

机构信息

Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.

Department of Neurology, Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum, Germany.

出版信息

Genet Med. 2021 Jun;23(6):1171-1172. doi: 10.1038/s41436-021-01104-1. Epub 2021 Feb 9.

DOI:10.1038/s41436-021-01104-1
PMID:33564152
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8187144/
Abstract
摘要

相似文献

1
Correspondence on "Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment" by Roux et al.关于鲁克斯等人所著的《小脑共济失调中STUB1变体的临床、神经病理学和遗传学特征：主要认知障碍的常见原因》的通信
Genet Med. 2021 Jun;23(6):1171-1172. doi: 10.1038/s41436-021-01104-1. Epub 2021 Feb 9.
2
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.小脑性共济失调中STUB1变异体的临床、神经病理学和遗传学特征：主要认知障碍的常见原因
Genet Med. 2020 Nov;22(11):1851-1862. doi: 10.1038/s41436-020-0899-x. Epub 2020 Jul 27.
3
Clinical and Genetic Characterization of Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16) in Taiwan.台湾常染色体隐性小脑共济失调 16 型 (SCAR16) 的临床和遗传特征。
Cerebellum. 2020 Aug;19(4):544-549. doi: 10.1007/s12311-020-01136-4.
4
Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations.常染色体隐性遗传成人发病小脑共济失调伴 STUB1 突变。
Neurology. 2014 May 13;82(19):1749-50. doi: 10.1212/WNL.0000000000000416. Epub 2014 Apr 9.
5
STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations.STUB1/CHIP突变作为广泛的多系统神经退行性变的一部分导致戈登·霍姆斯综合征：来自四个新突变的证据。
Orphanet J Rare Dis. 2017 Feb 13;12(1):31. doi: 10.1186/s13023-017-0580-x.
6
A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype.与早发性成年发病的多系统共济失调表型相关的新发 STUB1 变异。
J Neurol. 2021 Oct;268(10):3845-3851. doi: 10.1007/s00415-021-10524-7. Epub 2021 Apr 3.
7
Clinical and functional characterization of a novel STUB1 frameshift mutation in autosomal dominant spinocerebellar ataxia type 48 (SCA48).常染色体显性遗传性脊髓小脑性共济失调 48 型（SCA48）中新型 STUB1 移码突变的临床和功能特征。
J Biomed Sci. 2021 Sep 26;28(1):65. doi: 10.1186/s12929-021-00763-1.
8
Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts.STUB1突变的表型与频率：高加索人群共济失调和痉挛性截瘫队列中的新一代筛查
Orphanet J Rare Dis. 2014 Apr 17;9:57. doi: 10.1186/1750-1172-9-57.
9
Heterozygous mutation causes familial ataxia with cognitive affective syndrome (SCA48).杂合突变导致伴认知情感障碍的家族性共济失调（SCA48）。
Neurology. 2018 Nov 20;91(21):e1988-e1998. doi: 10.1212/WNL.0000000000006550. Epub 2018 Oct 31.
10
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.一项针对优势小脑性共济失调患者的面板研究强调了通道病的频率。
Brain. 2017 Jun 1;140(6):1579-1594. doi: 10.1093/brain/awx081.

引用本文的文献

1
A Severe Dementia Syndrome Caused by Intron Retention and Cryptic Splice Site Activation in and Exacerbated by Repeat Expansions.一种由内含子保留和隐蔽剪接位点激活引起并因重复序列扩增而加重的严重痴呆综合征。
Front Mol Neurosci. 2022 Apr 14;15:878236. doi: 10.3389/fnmol.2022.878236. eCollection 2022.
2
Genetic Dominant Variants in Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16.在患有SCA48的家族中分离的遗传显性变异，在体外显示出与与SCAR16相关的隐性变异无明显差异的功能损害。
Int J Mol Sci. 2021 May 30;22(11):5870. doi: 10.3390/ijms22115870.

本文引用的文献

1
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.小脑性共济失调中STUB1变异体的临床、神经病理学和遗传学特征：主要认知障碍的常见原因
Genet Med. 2020 Nov;22(11):1851-1862. doi: 10.1038/s41436-020-0899-x. Epub 2020 Jul 27.
2
Heterozygous missense variants cause ataxia, cognitive decline, and STUB1 mislocalization.杂合错义变异会导致共济失调、认知衰退和 STUB1 定位错误。
Neurol Genet. 2020 Feb 10;6(2):1-13. doi: 10.1212/NXG.0000000000000397. eCollection 2020 Apr.
3
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.8 个不相关意大利家系中脊髓小脑共济失调 48 型的复杂表型。
Eur J Neurol. 2020 Mar;27(3):498-505. doi: 10.1111/ene.14094. Epub 2019 Nov 1.
4
Heterozygous mutation causes familial ataxia with cognitive affective syndrome (SCA48).杂合突变导致伴认知情感障碍的家族性共济失调（SCA48）。
Neurology. 2018 Nov 20;91(21):e1988-e1998. doi: 10.1212/WNL.0000000000006550. Epub 2018 Oct 31.
5
STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations.STUB1/CHIP突变作为广泛的多系统神经退行性变的一部分导致戈登·霍姆斯综合征：来自四个新突变的证据。
Orphanet J Rare Dis. 2017 Feb 13;12(1):31. doi: 10.1186/s13023-017-0580-x.
6
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.常染色体隐性共济失调中的STUB1突变——突变特异性临床异质性的证据
Orphanet J Rare Dis. 2014 Sep 26;9:146. doi: 10.1186/s13023-014-0146-0.
7
Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts.STUB1突变的表型与频率：高加索人群共济失调和痉挛性截瘫队列中的新一代筛查
Orphanet J Rare Dis. 2014 Apr 17;9:57. doi: 10.1186/1750-1172-9-57.
8
Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations.常染色体隐性遗传成人发病小脑共济失调伴 STUB1 突变。
Neurology. 2014 May 13;82(19):1749-50. doi: 10.1212/WNL.0000000000000416. Epub 2014 Apr 9.
9
Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia.鉴定 CHIP 为常染色体隐性小脑共济失调的一个新的致病基因。
PLoS One. 2013 Dec 2;8(12):e81884. doi: 10.1371/journal.pone.0081884. eCollection 2013.
10
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.位于 AFG3L2 蛋白水解结构域的错义突变占欧洲常染色体显性小脑共济失调的约 1.5%。
Hum Mutat. 2010 Oct;31(10):1117-24. doi: 10.1002/humu.21342.