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Alexander disease.

作者信息

Zafeiriou Dimitrios I, Dragoumi Pinelopi, Vargiami Euthymia

机构信息

1st Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece.

出版信息

J Pediatr. 2013 Mar;162(3):648. doi: 10.1016/j.jpeds.2012.09.047. Epub 2012 Nov 10.

DOI:10.1016/j.jpeds.2012.09.047

PMID:23149175

Abstract

摘要

相似文献

Alexander disease.

J Pediatr. 2013 Mar;162(3):648. doi: 10.1016/j.jpeds.2012.09.047. Epub 2012 Nov 10.

A case of infantile Alexander disease diagnosed by magnetic resonance imaging and genetic analysis.

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An unusual presentation of juvenile Alexander disease.

J Child Neurol. 2012 Apr;27(4):507-10. doi: 10.1177/0883073811419263. Epub 2011 Sep 21.

Early mitochondrial dysfunction in an infant with Alexander disease.

Pediatr Neurol. 2006 Oct;35(4):293-6. doi: 10.1016/j.pediatrneurol.2006.03.010.

[Glial fibrillary acidic protein mutation in a Chinese girl with infantile Alexander disease].

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Dominantly-inherited adult-onset leukodystrophy with palatal tremor caused by a mutation in the glial fibrillary acidic protein gene.

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Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene.

Arch Neurol. 2003 Sep;60(9):1307-12. doi: 10.1001/archneur.60.9.1307.

Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene.

Neurology. 2003 Oct 14;61(7):1014-5. doi: 10.1212/01.wnl.0000082440.42354.d0.

Novel deletion mutation in GFAP gene in an infantile form of Alexander disease.

Pediatr Neurol. 2008 Jan;38(1):50-2. doi: 10.1016/j.pediatrneurol.2007.08.017.

Incidental diagnosis of an asymptomatic adult-onset Alexander disease by brain magnetic resonance imaging for preoperative evaluation.

J Neurol Sci. 2015 Jul 15;354(1-2):131-2. doi: 10.1016/j.jns.2015.05.001. Epub 2015 May 8.

引用本文的文献

Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic.

Clin Case Rep. 2016 Aug 15;4(9):885-95. doi: 10.1002/ccr3.655. eCollection 2016 Sep.

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相似文献

Alexander disease.

J Pediatr. 2013 Mar;162(3):648. doi: 10.1016/j.jpeds.2012.09.047. Epub 2012 Nov 10.

A case of infantile Alexander disease diagnosed by magnetic resonance imaging and genetic analysis.

Brain Dev. 2007 Sep;29(8):525-8. doi: 10.1016/j.braindev.2007.02.002. Epub 2007 Mar 23.

An unusual presentation of juvenile Alexander disease.

J Child Neurol. 2012 Apr;27(4):507-10. doi: 10.1177/0883073811419263. Epub 2011 Sep 21.

Early mitochondrial dysfunction in an infant with Alexander disease.

Pediatr Neurol. 2006 Oct;35(4):293-6. doi: 10.1016/j.pediatrneurol.2006.03.010.

[Glial fibrillary acidic protein mutation in a Chinese girl with infantile Alexander disease].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Feb;22(1):79-81.

Dominantly-inherited adult-onset leukodystrophy with palatal tremor caused by a mutation in the glial fibrillary acidic protein gene.

Mov Disord. 2004 Oct;19(10):1244-8. doi: 10.1002/mds.20161.

Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene.

Arch Neurol. 2003 Sep;60(9):1307-12. doi: 10.1001/archneur.60.9.1307.

Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene.

Neurology. 2003 Oct 14;61(7):1014-5. doi: 10.1212/01.wnl.0000082440.42354.d0.

Novel deletion mutation in GFAP gene in an infantile form of Alexander disease.

Pediatr Neurol. 2008 Jan;38(1):50-2. doi: 10.1016/j.pediatrneurol.2007.08.017.

Incidental diagnosis of an asymptomatic adult-onset Alexander disease by brain magnetic resonance imaging for preoperative evaluation.

J Neurol Sci. 2015 Jul 15;354(1-2):131-2. doi: 10.1016/j.jns.2015.05.001. Epub 2015 May 8.

引用本文的文献

Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic.

Clin Case Rep. 2016 Aug 15;4(9):885-95. doi: 10.1002/ccr3.655. eCollection 2016 Sep.

Alexander disease.

作者信息

Zafeiriou Dimitrios I, Dragoumi Pinelopi, Vargiami Euthymia

机构信息

1st Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece.

出版信息

J Pediatr. 2013 Mar;162(3):648. doi: 10.1016/j.jpeds.2012.09.047. Epub 2012 Nov 10.

DOI:10.1016/j.jpeds.2012.09.047

PMID:23149175

Abstract

摘要