• 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

First insights into genotype and phenotype of familial amyotrophic lateral sclerosis in Egypt: early onset and high consanguinity.

作者信息

Hamdi Nabila, Mueller Kathrin, Hamza Amr, Soliman Radwa, Onbool Enass, Omran Kareem, Ocab Omnia, Freischmidt Axel, Siebert Reiner, Ludolph Albert, Fahmy Nagia

机构信息

Molecular Pathology Unit, The German University in Cairo, New Cairo City, 11835, Egypt.

Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, 89081, Germany.

出版信息

Front Med. 2024 Dec;18(6):1115-1118. doi: 10.1007/s11684-024-1100-8. Epub 2024 Oct 12.

DOI:10.1007/s11684-024-1100-8
PMID:39397192
Abstract
摘要

相似文献

1
First insights into genotype and phenotype of familial amyotrophic lateral sclerosis in Egypt: early onset and high consanguinity.对埃及家族性肌萎缩侧索硬化症的基因型和表型的初步见解：早发性和高近亲结婚率。
Front Med. 2024 Dec;18(6):1115-1118. doi: 10.1007/s11684-024-1100-8. Epub 2024 Oct 12.
2
Identification of a novel Cys146X mutation of SOD1 in familial amyotrophic lateral sclerosis by whole-exome sequencing.通过全外显子组测序鉴定家族性肌萎缩侧索硬化症中的 SOD1 新型 Cys146X 突变。
Genet Med. 2012 Sep;14(9):823-6. doi: 10.1038/gim.2012.50. Epub 2012 May 17.
3
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.携带 C9ORF72 基因 GGGGCC 六核苷酸重复扩展的家族性肌萎缩侧索硬化症患者的临床特征。
Brain. 2012 Mar;135(Pt 3):784-93. doi: 10.1093/brain/awr366.
4
Lack of involvement of neuronal nitric oxide synthase in the pathogenesis of a transgenic mouse model of familial amyotrophic lateral sclerosis.神经元型一氧化氮合酶未参与家族性肌萎缩侧索硬化转基因小鼠模型的发病机制。
Neuroscience. 1999;90(4):1483-92. doi: 10.1016/s0306-4522(98)00492-8.
5
The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia.澳大利亚家族性肌萎缩侧索硬化症的基因型-表型图谱
Clin Genet. 2017 Sep;92(3):259-266. doi: 10.1111/cge.12973. Epub 2017 Mar 30.
6
Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene.伴有超氧化物歧化酶1（SOD-1）突变的严重家族性肌萎缩侧索硬化症的早发：睫状神经营养因子作为候选修饰基因的潜在影响
Am J Hum Genet. 2002 May;70(5):1277-86. doi: 10.1086/340427. Epub 2002 Apr 9.
7
Genotype-phenotype relationships in familial amyotrophic lateral sclerosis with FUS/TLS mutations in Japan.日本家族性肌萎缩侧索硬化症伴FUS/TLS突变的基因型与表型关系
Muscle Nerve. 2016 Sep;54(3):398-404. doi: 10.1002/mus.25061. Epub 2016 Feb 23.
8
Case report: Flail leg syndrome in familial amyotrophic lateral sclerosis with L144S mutation.病例报告：伴有L144S突变的家族性肌萎缩侧索硬化中的连枷腿综合征
Front Neurol. 2023 Mar 22;14:1138668. doi: 10.3389/fneur.2023.1138668. eCollection 2023.
9
Juvenile familial amyotrophic lateral sclerosis: two siblings.青少年家族性肌萎缩侧索硬化症：两例同胞患者。
Amyotroph Lateral Scler Other Motor Neuron Disord. 2002 Sep;3(3):163-4. doi: 10.1080/146608202760834184.
10
Clinical and genetic characteristics of 1672 cases of amyotrophic lateral sclerosis in China: a single-center retrospective study.中国1672例肌萎缩侧索硬化症的临床与遗传学特征：一项单中心回顾性研究
J Neurol. 2024 Aug;271(8):5541-5548. doi: 10.1007/s00415-024-12513-y. Epub 2024 Jun 19.

引用本文的文献

1
Tofersen and other antisense oligonucleotides in ALS.托非生及肌萎缩侧索硬化症中的其他反义寡核苷酸。
Ther Adv Neurol Disord. 2025 Jan 22;18:17562864251313915. doi: 10.1177/17562864251313915. eCollection 2025.

本文引用的文献

1
The prognostic value of systematic genetic screening in amyotrophic lateral sclerosis patients.系统遗传学筛查在肌萎缩侧索硬化症患者中的预后价值。
J Neurol. 2024 Mar;271(3):1385-1396. doi: 10.1007/s00415-023-12079-1. Epub 2023 Nov 19.
2
Egyptian adaptation and validation of the Edinburgh Cognitive and Behavioral Amyotrophic Lateral Sclerosis Screen (ECAS-EG).埃及版爱丁堡认知和行为肌萎缩侧索硬化症筛查量表（ECAS-EG）的适应性和验证。
Neurol Sci. 2023 Jun;44(6):1871-1880. doi: 10.1007/s10072-023-06639-6. Epub 2023 Feb 8.
3
A novel homozygous p.Ser69Pro SOD1 mutation causes severe young-onset ALS with decreased enzyme activity.
一种新型的 SOD1 基因纯合 p.Ser69Pro 突变导致酶活性降低的严重青年起病型 ALS。
J Neurol. 2023 Mar;270(3):1770-1773. doi: 10.1007/s00415-022-11489-x. Epub 2022 Dec 6.
4
Genotype-phenotype correlation in Tunisian patients with Amyotrophic Lateral Sclerosis.突尼斯肌萎缩侧索硬化症患者的基因型-表型相关性。
Neurobiol Aging. 2022 Dec;120:27-33. doi: 10.1016/j.neurobiolaging.2022.08.002. Epub 2022 Aug 14.
5
Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis.揭示南非肌萎缩侧索硬化症患者的突变谱。
Neurol Genet. 2022 Jan 12;8(1):e654. doi: 10.1212/NXG.0000000000000654. eCollection 2022 Feb.
6
A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay.一种隐性 Optineurin 的 S174X 突变，通过等位基因特异性无意义介导的衰变导致其功能丧失，从而引起肌萎缩侧索硬化症。
Neurobiol Aging. 2021 Oct;106:351.e1-351.e6. doi: 10.1016/j.neurobiolaging.2021.05.009. Epub 2021 Jun 4.
7
Diagnostic delay among ALS patients: Egyptian study.肌萎缩侧索硬化症患者的诊断延误：埃及研究。
Amyotroph Lateral Scler Frontotemporal Degener. 2020 Aug;21(5-6):416-419. doi: 10.1080/21678421.2020.1763401. Epub 2020 May 14.
8
Epidemiological and clinical features of amyotrophic lateral sclerosis in a Tunisian cohort.突尼斯队列中肌萎缩侧索硬化症的流行病学和临床特征。
Amyotroph Lateral Scler Frontotemporal Degener. 2020 Feb;21(1-2):131-139. doi: 10.1080/21678421.2019.1704012. Epub 2019 Dec 20.
9
Clinical features and prognosis of amyotrophic lateral sclerosis in Africa: the TROPALS study.非洲肌萎缩侧索硬化症的临床特征和预后：TROPALS 研究。
J Neurol Neurosurg Psychiatry. 2019 Jan;90(1):20-29. doi: 10.1136/jnnp-2018-318469. Epub 2018 Sep 21.
10
Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants.提高对肌萎缩侧索硬化症遗传学的认识：新型超氧化物歧化酶1（SOD1）和融合蛋白（FUS）变体
Neurobiol Aging. 2014 May;35(5):1212.e7-1212.e10. doi: 10.1016/j.neurobiolaging.2013.10.093. Epub 2013 Oct 29.