• 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

A Novel APTX Variant and Ataxia with Oculomotor Apraxia Type 1.

作者信息

Manzoor Humera, Bukhari Ihtisham, Wajid Muhammad, Zhang Yuanwei, Zhang Huan, Brüggemann Norbert, Klein Christine, Shi Qinghua, Naz Sadaf

机构信息

School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore, Pakistan.

USTC-Shenyang Jinghua Hospital Joint Center of Human Reproduction and Genetics, School of Life Sciences, University of Science and Technology of China, Anhui, China.

出版信息

J Clin Neurol. 2017 Jul;13(3):303-305. doi: 10.3988/jcn.2017.13.3.303. Epub 2017 May 15.

DOI:10.3988/jcn.2017.13.3.303
PMID:28516743
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5532331/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/108b/5532331/8b9afce9b1c5/jcn-13-303-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/108b/5532331/8b9afce9b1c5/jcn-13-303-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/108b/5532331/8b9afce9b1c5/jcn-13-303-g001.jpg

相似文献

1
A Novel APTX Variant and Ataxia with Oculomotor Apraxia Type 1.一种新型的APTX变异体与1型动眼失用性共济失调
J Clin Neurol. 2017 Jul;13(3):303-305. doi: 10.3988/jcn.2017.13.3.303. Epub 2017 May 15.
2
Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.一名患有1型动眼神经失用型共济失调患者的APTX完全缺失。
BMC Med Genet. 2015 Aug 19;16:61. doi: 10.1186/s12881-015-0213-y.
3
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.临床、生物标志物和分子特征及眼动性共济失调伴发作性运动诱发性运动障碍 1 型的基因型-表型相关性
JAMA Neurol. 2018 Apr 1;75(4):495-502. doi: 10.1001/jamaneurol.2017.4373.
4
Ataxia Oculomotor Apraxia Type 1 in the Siblings of a Family: A Novel Mutation.一个家族中兄弟姐妹的1型共济失调性动眼失用症：一种新突变
Iran J Child Neurol. 2017 Winter;11(1):78-81.
5
Familial cognitive impairment with ataxia with oculomotor apraxia.伴有动眼性失用的共济失调性家族性认知障碍。
J Child Neurol. 2005 Jun;20(6):523-5. doi: 10.1177/088307380502000610.
6
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1.早发性眼球运动异常性共济失调伴低白蛋白血症/眼动性运动不能性共济失调 1 型
Adv Exp Med Biol. 2010;685:21-33. doi: 10.1007/978-1-4419-6448-9_3.
7
Novel Mutation in a Hispanic Subject Affected by Ataxia with Oculomotor Apraxia Type 1.一名患有1型动眼性失用性共济失调的西班牙裔受试者的新突变
Mov Disord Clin Pract. 2014 Dec 10;2(1):90-92. doi: 10.1002/mdc3.12112. eCollection 2015 Mar.
8
Identification of a novel mutation in the gene associated with ataxia-oculomotor apraxia.与共济失调-动眼性失用症相关基因中一种新突变的鉴定。
Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). doi: 10.1101/mcs.a002014. Print 2017 Nov.
9
Early-onset ataxia with oculomotor apraxia with a novel APTX mutation.伴有新型APTX突变的早发性共济失调伴动眼神经失用症
Pediatr Neurol. 2005 Jul;33(1):53-6. doi: 10.1016/j.pediatrneurol.2005.01.012.
10
Type 1 ataxia with oculomotor apraxia with aprataxin gene mutations in two American children.两名美国儿童中伴有aprataxin基因突变的1型动眼神经失用性共济失调
J Child Neurol. 2005 Jul;20(7):619-20. doi: 10.1177/08830738050200071701.

引用本文的文献

1
Ataxia with oculomotor apraxia type 1 associated with mutation in the APTX gene: A case study and literature review.与APTX基因突变相关的1型动眼性失用共济失调：病例研究及文献综述
Exp Ther Med. 2022 Oct 5;24(6):709. doi: 10.3892/etm.2022.11645. eCollection 2022 Dec.

本文引用的文献

1
Genetic cerebellar ataxias.遗传性小脑共济失调
Semin Neurol. 2014 Jul;34(3):280-92. doi: 10.1055/s-0034-1386766. Epub 2014 Sep 5.
2
Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas.外显子组测序和功能分析鉴定出 EXT1 基因中的一个新突变，该突变导致多发性骨软骨瘤。
PLoS One. 2013 Aug 29;8(8):e72316. doi: 10.1371/journal.pone.0072316. eCollection 2013.
3
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.
眼动性运动不能症 1 型伴共济失调（AOA1）：意大利患者的新型和复发性 aprataxin 突变、辅酶 Q10 分析及临床发现。
Neurogenetics. 2011 Aug;12(3):193-201. doi: 10.1007/s10048-011-0281-x. Epub 2011 Apr 5.
4
The nonsense-mediated decay RNA surveillance pathway.无义介导的mRNA降解RNA监测途径。
Annu Rev Biochem. 2007;76:51-74. doi: 10.1146/annurev.biochem.76.050106.093909.
5
A simple and efficient non-organic procedure for the isolation of genomic DNA from blood.一种从血液中分离基因组DNA的简单高效的非有机方法。
Nucleic Acids Res. 1989 Oct 25;17(20):8390. doi: 10.1093/nar/17.20.8390.