小脑共济失调作为亚历山大病的首发表现。 - Suppr

Cerebellar ataxia as the first manifestation of Alexander's disease.

作者信息

Rezende Sheyla Ariêh de Souza, Fernandes Maurício, Munhoz Renato Puppi, Raskin Salmo, Schelp Arthur Oscar, Knaap Marjo S van der, Teive Hélio A G

出版信息

Arq Neuropsiquiatr. 2012 Apr;70(4):309-10. doi: 10.1590/s0004-282x2012000400018.

DOI:10.1590/s0004-282x2012000400018

PMID:22510744

Abstract

摘要

相似文献

Cerebellar ataxia as the first manifestation of Alexander's disease.

Arq Neuropsiquiatr. 2012 Apr;70(4):309-10. doi: 10.1590/s0004-282x2012000400018.

Late onset Alexander's disease presenting as cerebellar ataxia associated with a novel mutation in the GFAP gene.

J Neurol. 2011 May;258(5):938-40. doi: 10.1007/s00415-010-5849-0. Epub 2010 Dec 17.

Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP.

J Neurol Sci. 2004 Oct 15;225(1-2):125-7. doi: 10.1016/j.jns.2004.07.008.

Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia.

Mov Disord. 2009 Jul 15;24(9):1393-5. doi: 10.1002/mds.22556.

Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease.

Ann Neurol. 2002 Dec;52(6):779-85. doi: 10.1002/ana.10375.

Atypical focal MRI lesions in a case of juvenile Alexander's disease.

Ann Neurol. 2003 Jan;53(1):118-20. doi: 10.1002/ana.10382.

Adult Alexander's disease without leukoencephalopathy.

Ann Neurol. 2005 Nov;58(5):813-4. doi: 10.1002/ana.20634.

[Juvenile form of Alexander's disease - a case confirmed by detection of mutation in GFAP gene].

Neurol Neurochir Pol. 2007 May-Jun;41(3):267-71.

Unusual variants of Alexander's disease.

Ann Neurol. 2005 Mar;57(3):327-38. doi: 10.1002/ana.20381.

An unusual presentation of late-onset Alexander's disease with slow orthostatic tremor and a novel GFAP variant.

Neurocase. 2018 Oct-Dec;24(5-6):266-268. doi: 10.1080/13554794.2019.1580749. Epub 2019 Feb 12.

引用本文的文献

Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing.

Eur J Med Res. 2022 Sep 10;27(1):174. doi: 10.1186/s40001-022-00799-5.

Familial Adult-onset Alexander Disease: Clinical and Neuroradiological Findings of Three Cases.

Noro Psikiyatr Ars. 2016 Jun;53(2):169-172. doi: 10.5152/npa.2015.10193. Epub 2016 Jun 1.

CSF and Blood Levels of GFAP in Alexander Disease.

eNeuro. 2015 Oct 1;2(5). doi: 10.1523/ENEURO.0080-15.2015. eCollection 2015 Sep.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

Cerebellar ataxia as the first manifestation of Alexander's disease.

作者信息

Rezende Sheyla Ariêh de Souza, Fernandes Maurício, Munhoz Renato Puppi, Raskin Salmo, Schelp Arthur Oscar, Knaap Marjo S van der, Teive Hélio A G

出版信息

Arq Neuropsiquiatr. 2012 Apr;70(4):309-10. doi: 10.1590/s0004-282x2012000400018.

DOI:10.1590/s0004-282x2012000400018

PMID:22510744

Abstract

摘要

相似文献

Cerebellar ataxia as the first manifestation of Alexander's disease.

Arq Neuropsiquiatr. 2012 Apr;70(4):309-10. doi: 10.1590/s0004-282x2012000400018.

Late onset Alexander's disease presenting as cerebellar ataxia associated with a novel mutation in the GFAP gene.

J Neurol. 2011 May;258(5):938-40. doi: 10.1007/s00415-010-5849-0. Epub 2010 Dec 17.

Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP.

J Neurol Sci. 2004 Oct 15;225(1-2):125-7. doi: 10.1016/j.jns.2004.07.008.

Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia.

Mov Disord. 2009 Jul 15;24(9):1393-5. doi: 10.1002/mds.22556.

Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease.

Ann Neurol. 2002 Dec;52(6):779-85. doi: 10.1002/ana.10375.

Atypical focal MRI lesions in a case of juvenile Alexander's disease.

Ann Neurol. 2003 Jan;53(1):118-20. doi: 10.1002/ana.10382.

Adult Alexander's disease without leukoencephalopathy.

Ann Neurol. 2005 Nov;58(5):813-4. doi: 10.1002/ana.20634.

[Juvenile form of Alexander's disease - a case confirmed by detection of mutation in GFAP gene].

Neurol Neurochir Pol. 2007 May-Jun;41(3):267-71.

Unusual variants of Alexander's disease.

Ann Neurol. 2005 Mar;57(3):327-38. doi: 10.1002/ana.20381.

An unusual presentation of late-onset Alexander's disease with slow orthostatic tremor and a novel GFAP variant.

Neurocase. 2018 Oct-Dec;24(5-6):266-268. doi: 10.1080/13554794.2019.1580749. Epub 2019 Feb 12.

引用本文的文献

Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing.

Eur J Med Res. 2022 Sep 10;27(1):174. doi: 10.1186/s40001-022-00799-5.

Familial Adult-onset Alexander Disease: Clinical and Neuroradiological Findings of Three Cases.

Noro Psikiyatr Ars. 2016 Jun;53(2):169-172. doi: 10.5152/npa.2015.10193. Epub 2016 Jun 1.

CSF and Blood Levels of GFAP in Alexander Disease.

eNeuro. 2015 Oct 1;2(5). doi: 10.1523/ENEURO.0080-15.2015. eCollection 2015 Sep.

Cerebellar ataxia as the first manifestation of Alexander's disease.

作者信息

出版信息

相似文献

引用本文的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

Cerebellar ataxia as the first manifestation of Alexander's disease.

作者信息

出版信息

相似文献

引用本文的文献