• 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

相似文献

1
Gerstmann-Sträussler-Scheinker Disease Presenting with Atypical Parkinsonism, but Typical Magnetic Resonance Imaging Findings of Prion Disease.表现为非典型帕金森综合征但具有朊病毒病典型磁共振成像表现的格斯特曼-施特劳斯勒-谢inker病
Mov Disord Clin Pract. 2015 Sep 6;3(1):93-95. doi: 10.1002/mdc3.12228. eCollection 2016 Jan-Feb.
2
[Gerstmann-Sträussler-Scheinker syndrome with a Pro102Leu mutation in the prion protein gene and atypical MRI findings, hyperthermia, tachycardia, and hyperhidrosis].[伴有朊蛋白基因Pro102Leu突变、非典型MRI表现、高热、心动过速和多汗的格斯特曼-施特劳斯勒-谢inker综合征]
Rinsho Shinkeigaku. 1998 Oct-Nov;38(10-11):920-5.
3
Gerstmann-Sträussler-Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt-Jakob disease: a case report and review of the literature.伴有P102L致病突变的格斯特曼-施特劳斯勒-申克综合征表现为家族性克雅氏病：一例报告及文献复习
Neurocase. 2013;19(1):41-53. doi: 10.1080/13554794.2011.654215. Epub 2012 Apr 12.
4
A second case of Gerstmann-Sträussler-Scheinker disease linked to the G131V mutation in the prion protein gene in a Dutch patient.第二例与朊病毒蛋白基因 G131V 突变相关的格斯特曼-施特劳斯勒-谢因克病患者来自荷兰。
J Neuropathol Exp Neurol. 2011 Aug;70(8):698-702. doi: 10.1097/NEN.0b013e3182270c54.
5
Neurofibrillary tangles in Gerstmann-Sträussler-Scheinker syndrome with the A117V prion gene mutation.伴有A117V朊病毒基因突变的格斯特曼-施特劳斯勒-谢inker综合征中的神经原纤维缠结。
J Neurol Neurosurg Psychiatry. 1997 Aug;63(2):240-6. doi: 10.1136/jnnp.63.2.240.
6
Clinical Variability in P102L Gerstmann-Sträussler-Scheinker Syndrome.P102L 型格斯特曼-施特劳斯勒-谢因克综合征的临床变异性。
Ann Neurol. 2019 Nov;86(5):643-652. doi: 10.1002/ana.25579. Epub 2019 Sep 4.
7
[A case of Gerstmann-Sträussler-Scheinker disease with severe muscular atrophy and vertical gaze palsy].[1例伴有严重肌肉萎缩和垂直性凝视麻痹的格斯特曼-施特劳斯勒-谢inker病]
Rinsho Shinkeigaku. 2000 Jul;40(7):726-31.
8
A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease.一种与格斯特曼-施特劳斯勒-谢inker病相关的新的PRNP基因突变（G131V）。
Arch Neurol. 2001 Nov;58(11):1899-902. doi: 10.1001/archneur.58.11.1899.
9
[Patient with Gerstmann-Striussler-Scheinker syndrome (GSS P102L) presenting high intensity lesions in the cerebral cortex on diffusion weighted MRI].[患有格斯特曼-施特劳斯勒-谢inker综合征（GSS P102L）的患者在扩散加权磁共振成像上显示大脑皮质高强度病变]
Rinsho Shinkeigaku. 2006 Apr;46(4):291-3.
10
Gerstmann-Sträussler-Scheinker syndrome in an Argentinean family due to mutationat codon 117 of the Prion Protein Gene (PrPA117V).阿根廷一个家族中因朊蛋白基因密码子117处突变（PrPA117V）导致的格斯特曼-施特劳斯勒-谢inker综合征
J Neurol Sci. 2016 May 15;364:50-2. doi: 10.1016/j.jns.2016.02.056. Epub 2016 Feb 27.

引用本文的文献

1
Structures of Oligomeric States of Tau Protein, Amyloid-β, α-Synuclein and Prion Protein Implicated in Alzheimer's Disease, Parkinson's Disease and Prionopathies.与阿尔茨海默病、帕金森病和朊病毒病相关的tau蛋白、淀粉样β蛋白、α-突触核蛋白和朊病毒蛋白的寡聚体结构
Int J Mol Sci. 2024 Dec 4;25(23):13049. doi: 10.3390/ijms252313049.
2
Genotype-Phenotype Correlation in Progressive Supranuclear Palsy Syndromes: Clinical and Radiological Similarities and Specificities.进行性核上性麻痹综合征的基因型-表型相关性：临床和影像学的相似性与特异性
Front Neurol. 2022 Apr 26;13:861585. doi: 10.3389/fneur.2022.861585. eCollection 2022.
3
Tauopathy and Movement Disorders-Unveiling the Chameleons and Mimics.tau蛋白病与运动障碍——揭示变色龙与模仿者
Front Neurol. 2020 Nov 5;11:599384. doi: 10.3389/fneur.2020.599384. eCollection 2020.
4
iPS Cell Cultures from a Gerstmann-Sträussler-Scheinker Patient with the Y218N PRNP Mutation Recapitulate tau Pathology.携 Y218N PRNP 突变的格斯特曼-施特劳斯勒-谢因克患者的 iPS 细胞培养物重现了 tau 病理学。
Mol Neurobiol. 2018 Apr;55(4):3033-3048. doi: 10.1007/s12035-017-0506-6. Epub 2017 May 2.
5
Clinicopathological Correlates in a P102L Mutation Carrier with Rapidly Progressing Parkinsonism-dystonia.一名携带P102L突变且帕金森病-肌张力障碍快速进展患者的临床病理相关性
Mov Disord Clin Pract. 2016 Jul-Aug;3(4):355-358. doi: 10.1002/mdc3.12307. Epub 2016 Feb 18.

本文引用的文献

1
Atypical parkinsonism due to a D202N Gerstmann-Sträussler-Scheinker prion protein mutation: first in vivo diagnosed case.D202N 型格斯特曼-施特劳斯勒-谢因克朊病毒蛋白突变所致非典型帕金森病：首例体内诊断病例。
Mov Disord. 2013 Feb;28(2):241-4. doi: 10.1002/mds.25188.
2
A novel PRNP Y218N mutation in Gerstmann-Sträussler-Scheinker disease with neurofibrillary degeneration.伴有神经纤维缠结的格斯特曼-施特劳斯勒-谢因克病中一种新型的 PRNP Y218N 突变。
J Neuropathol Exp Neurol. 2010 Aug;69(8):789-800. doi: 10.1097/NEN.0b013e3181e85737.
3
Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series.国际系列研究中P102L遗传性朊病毒病的表型异质性与基因修饰
Brain. 2008 Oct;131(Pt 10):2632-46. doi: 10.1093/brain/awn202. Epub 2008 Aug 30.
4
Novel prion protein gene mutation presenting with subacute PSP-like syndrome.呈现亚急性进行性核上性麻痹样综合征的新型朊蛋白基因突变
Neurology. 2007 Mar 13;68(11):868-70. doi: 10.1212/01.wnl.0000256819.61531.98.
5
Genetic prion disease: the EUROCJD experience.遗传性朊病毒病：欧洲克雅氏病监测网（EUROCJD）的经验
Hum Genet. 2005 Nov;118(2):166-74. doi: 10.1007/s00439-005-0020-1. Epub 2005 Nov 15.
6
The MRI pattern of frontal and temporal brain atrophy in fronto-temporal dementia.额颞叶痴呆中额叶和颞叶脑萎缩的磁共振成像模式
Neurobiol Aging. 2003 Jan-Feb;24(1):95-103. doi: 10.1016/s0197-4580(02)00045-3.
7
[A case of Gerstmann-Sträussler-Scheinker disease with severe muscular atrophy and vertical gaze palsy].[1例伴有严重肌肉萎缩和垂直性凝视麻痹的格斯特曼-施特劳斯勒-谢inker病]
Rinsho Shinkeigaku. 2000 Jul;40(7):726-31.
8
Variant Gerstmann-Sträussler syndrome with the P105L prion gene mutation: an unusual case with nigral degeneration and widespread neurofibrillary tangles.伴有P105L朊病毒基因突变的变异型格斯特曼-施特劳斯勒综合征：一例伴有黑质变性和广泛神经原纤维缠结的罕见病例。
Acta Neuropathol. 1999 Nov;98(5):506-11. doi: 10.1007/s004010051116.

Gerstmann-Sträussler-Scheinker Disease Presenting with Atypical Parkinsonism, but Typical Magnetic Resonance Imaging Findings of Prion Disease.

作者信息

Ribosa-Nogué Roser, Pagonabarraga Javier, Gomez-Anson Beatriz, Granell-Moreno Esther, Sánchez-Valle Raquel, Kulisevsky Jaime

机构信息

Movement Disorders Unit Department of Neurology Hospital de la Santa Creu i Sant Pau Biomedical Research Institute-Sant Pau (IIB-Sant Pau) Autonomous University of Barcelona Barcelona Spain.

Center for Networker Biomedical Research in Neurodegenerative Diseases (CIBERNED) Madrid Spain.

出版信息

Mov Disord Clin Pract. 2015 Sep 6;3(1):93-95. doi: 10.1002/mdc3.12228. eCollection 2016 Jan-Feb.

DOI:10.1002/mdc3.12228
PMID:30713902
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6353433/
Abstract
摘要