High frequency of exon 10 mutations in the NOTCH3 gene in Italian CADASIL families: phenotypic peculiarities.

作者信息

Bianchi S, Rufa A, Ragno M, D'Eramo C, Pescini F, Pantoni L, Cappelli A, Perretti A, Zicari E, Zolo P, Inzitari D, Dotti M T, Federico A

出版信息

J Neurol. 2010 Jun;257(6):1039-42. doi: 10.1007/s00415-010-5481-z. Epub 2010 Feb 19.

DOI:10.1007/s00415-010-5481-z

PMID:20169447

Abstract

摘要

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本文引用的文献

Nephroangiosclerosis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: is NOTCH3 mutation the common culprit?伴有皮质下梗死和白质脑病的脑常染色体显性动脉病中的肾血管硬化：NOTCH3 突变是常见病因吗？

Am J Kidney Dis. 2008 Aug;52(2):340-5. doi: 10.1053/j.ajkd.2008.04.017. Epub 2008 Jun 24.

Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL.新型人类病理突变。基因符号：NOTCH3。疾病：伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）

Hum Genet. 2007 Dec;122(5):558.

Neuropsychiatric manifestations in CADASIL.伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病的神经精神症状

Dialogues Clin Neurosci. 2007;9(2):199-208. doi: 10.31887/DCNS.2007.9.2/hchabriat.

Neurol Sci. 2007 Aug;28(4):181-4. doi: 10.1007/s10072-007-0817-x. Epub 2007 Aug 10.

Gene symbol: NOTCH3.基因符号：NOTCH3。

Hum Genet. 2007 Apr;121(2):295.

Varicose veins associated with CADASIL result from a novel mutation in the Notch3 gene.与伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）相关的静脉曲张是由Notch3基因的一种新突变引起的。

Neurology. 2006 Jul 25;67(2):337-9. doi: 10.1212/01.wnl.0000224758.52970.19.

Gene symbol: NOTCH3. Disease: CADASIL.基因符号：NOTCH3。疾病：伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）

Hum Genet. 2005 Dec;118(3-4):535.

The spectrum of mutations for CADASIL diagnosis.用于CADASIL诊断的突变谱。

Neurol Sci. 2005 Jun;26(2):117-24. doi: 10.1007/s10072-005-0444-3.

The spectrum of Notch3 mutations in 28 Italian CADASIL families.28个意大利CADASIL家族中Notch3突变的谱系

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Brain. 2004 Nov;127(Pt 11):2533-9. doi: 10.1093/brain/awh282. Epub 2004 Sep 13.

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