迟发性亚历山大病表现为小脑共济失调，与胶质纤维酸性蛋白（GFAP）基因的一种新突变相关。 - Suppr

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超能文献

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

作者信息

Schmidt Stephan, Wattjes Mike P, Gerding Wanda M, van der Knaap Marjo

出版信息

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

DOI:10.1007/s00415-010-5849-0

PMID:21165639

Abstract

摘要

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本文引用的文献

The genetic aetiology of late-onset chronic progressive cerebellar ataxia. A population-based study.迟发性慢性进行性小脑共济失调的遗传病因。一项基于人群的研究。

J Neurol. 2009 Mar;256(3):343-8. doi: 10.1007/s00415-009-0015-2. Epub 2009 Mar 6.

Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature.成人型亚历山大病：11例非亲缘关系病例系列报道并文献复习

Brain. 2008 Sep;131(Pt 9):2321-31. doi: 10.1093/brain/awn178. Epub 2008 Aug 6.

Can MR imaging diagnose adult-onset Alexander disease?磁共振成像能诊断成人型亚历山大病吗？

AJNR Am J Neuroradiol. 2008 Jun;29(6):1190-6. doi: 10.3174/ajnr.A1060. Epub 2008 Apr 3.

GFAP and its role in Alexander disease.胶质纤维酸性蛋白（GFAP）及其在亚历山大病中的作用。

Exp Cell Res. 2007 Jun 10;313(10):2077-87. doi: 10.1016/j.yexcr.2007.04.004. Epub 2007 Apr 6.

Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord.亚历山大病：脑室花环以及延髓和脊髓异常。

Neurology. 2006 Feb 28;66(4):494-8. doi: 10.1212/01.wnl.0000198770.80743.37.

Unusual variants of Alexander's disease.亚历山大病的罕见变异型

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

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Ann Neurol. 2005 Mar;57(3):310-26. doi: 10.1002/ana.20406.

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