• 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 compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis.

作者信息

Luigetti Marco, Lattante Serena, Conte Amelia, Romano Angela, Zollino Marcella, Marangi Giuseppe, Sabatelli Mario

机构信息

Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.

出版信息

Amyotroph Lateral Scler Frontotemporal Degener. 2013 Sep;14(5-6):470-2. doi: 10.3109/21678421.2012.756036. Epub 2013 Jan 3.

DOI:10.3109/21678421.2012.756036
PMID:23282280
Abstract
摘要

相似文献

1
A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis.
Amyotroph Lateral Scler Frontotemporal Degener. 2013 Sep;14(5-6):470-2. doi: 10.3109/21678421.2012.756036. Epub 2013 Jan 3.
2
Novel compound heterozygous ALS2 mutations cause juvenile amyotrophic lateral sclerosis in Japan.
Neurology. 2009 Dec 15;73(24):2124-6. doi: 10.1212/WNL.0b013e3181c67be0.
3
Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis.青少年肌萎缩侧索硬化症中ALS2基因的新突变。
Ann Neurol. 2005 Nov;58(5):800-3. doi: 10.1002/ana.20665.
4
Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis.常染色体隐性遗传性肌萎缩侧索硬化症日本患者ALS2基因非编码区的单核苷酸多态性
Neurol Res. 2003 Jul;25(5):505-9. doi: 10.1179/016164103101201733.
5
Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis.散发性和家族性肌萎缩侧索硬化症中ALS2基因的突变筛查
Arch Neurol. 2003 Dec;60(12):1768-71. doi: 10.1001/archneur.60.12.1768.
6
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.一种编码假定GTP酶调节因子的基因在家族性肌萎缩侧索硬化症2型中发生突变。
Nat Genet. 2001 Oct;29(2):166-73. doi: 10.1038/ng1001-166.
7
Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe.患有婴儿期起病的上行性痉挛性麻痹的同胞中的新型纯合 ALS2 无义突变（p.Gln715X）：来自欧洲西北部的首例病例
Eur J Hum Genet. 2008 Nov;16(11):1407-11. doi: 10.1038/ejhg.2008.108. Epub 2008 Jun 4.
8
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.编码alsin（一种具有三个鸟嘌呤核苷酸交换因子结构域的蛋白质）的基因在一种隐性肌萎缩侧索硬化症中发生突变。
Nat Genet. 2001 Oct;29(2):160-5. doi: 10.1038/ng1001-160.
9
[Recessive motor neuron diseases: mutations in the ALS2 gene and molecular pathogenesis for the upper motor neurodegeneration].[隐性运动神经元疾病：ALS2基因中的突变与上运动神经元神经变性的分子发病机制]
Rinsho Shinkeigaku. 2004 Nov;44(11):792-4.
10
A novel mutation in the ALS2 gene in an iranian kurdish family with juvenile amyotrophic lateral sclerosis.一个伊朗库尔德家族的少年型肌萎缩侧索硬化症中 ALS2 基因的新突变。
Amyotroph Lateral Scler Frontotemporal Degener. 2023 Feb;24(1-2):148-151. doi: 10.1080/21678421.2022.2100263. Epub 2022 Jul 19.

引用本文的文献

1
ALS2-Related Motor Neuron Diseases: From Symptoms to Molecules.与ALS2相关的运动神经元疾病：从症状到分子
Biology (Basel). 2022 Jan 5;11(1):77. doi: 10.3390/biology11010077.
2
Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function.与青少年运动神经元疾病相关的致病性 ALS2 变异体中寡聚状态的改变导致 ALS2 介导的内体功能丧失。
J Biol Chem. 2018 Nov 2;293(44):17135-17153. doi: 10.1074/jbc.RA118.003849. Epub 2018 Sep 17.
3
Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype.
肌萎缩侧索硬化症的靶向基因筛查揭示了对临床表型具有协同作用的新型基因变异。
Front Mol Neurosci. 2017 Nov 9;10:370. doi: 10.3389/fnmol.2017.00370. eCollection 2017.
4
The emerging role of guanine nucleotide exchange factors in ALS and other neurodegenerative diseases.鸟嘌呤核苷酸交换因子在肌萎缩侧索硬化症和其他神经退行性疾病中的新作用。
Front Cell Neurosci. 2014 Sep 10;8:282. doi: 10.3389/fncel.2014.00282. eCollection 2014.
5
Alsin related disorders: literature review and case study with novel mutations.阿尔辛相关疾病：文献综述与新突变病例研究
Case Rep Genet. 2014;2014:691515. doi: 10.1155/2014/691515. Epub 2014 Sep 14.