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CARASIL, a rare genetic cause of stroke in the young.

作者信息

Devaraddi Navalli, Jayalakshmi G, Mutalik Narayan R

机构信息

Department of Medicine, Department of Psychiatry, S Nijalingappa Medical College, Bagalkot, Karnataka, India.

出版信息

Neurol India. 2018 Jan-Feb;66(1):232-234. doi: 10.4103/0028-3886.222859.

DOI:10.4103/0028-3886.222859
PMID:29322992
Abstract
摘要

相似文献

1
CARASIL, a rare genetic cause of stroke in the young.伴有皮质下梗死和白质脑病的常染色体隐性遗传性脑动脉病(CARASIL),是年轻人中风的一种罕见遗传病因。
Neurol India. 2018 Jan-Feb;66(1):232-234. doi: 10.4103/0028-3886.222859.
2
CARASIL families from India with 3 novel null mutations in the gene.来自印度的伴有该基因3种新型无效突变的CARASIL家族。
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A CARASIL Patient from Americas with Novel Mutation and Atypical Features: Case Presentation and Literature Review.一位来自美洲的伴有新突变和非典型特征的CARASIL患者:病例报告及文献综述
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Genetically Confirmed CARASIL: Case Report with Novel HTRA1 Mutation and Literature Review.遗传性脑动脉病伴皮质下梗死和白质脑病(CARASIL)的基因确诊病例报告:伴有新 HTRA1 突变及文献复习。
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Monogenic causes of stroke: now and the future.中风的单基因病因:现状与未来。
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A Case of Leukoencephalopathy and Small Vessels Disease Caused by a Novel HTRA1 Homozygous Mutation.一种由新型 HTRA1 纯合突变引起的脑白质病和小血管病病例报告。
J Stroke Cerebrovasc Dis. 2019 Nov;28(11):104354. doi: 10.1016/j.jstrokecerebrovasdis.2019.104354. Epub 2019 Sep 5.
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Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL.HTRA1突变体在伴有CARASIL的杂合子中表现出的独特分子机制。
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A Chinese CARASIL Patient Caused by Novel Compound Heterozygous Mutations in HTRA1.一名由HTRA1基因新型复合杂合突变引起的中国CARASIL患者。
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A novel mutation in the HTRA1 gene identified in Chinese CARASIL pedigree.在中国CARASIL家系中鉴定出HTRA1基因的一种新突变。
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引用本文的文献

1
Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.病例报告:HTRA1基因杂合突变导致典型的伴有皮质下梗死和白质脑病的常染色体隐性遗传性脑动脉病
Front Genet. 2023 Sep 18;14:1235650. doi: 10.3389/fgene.2023.1235650. eCollection 2023.
2
Stroke Genomics: Current Knowledge, Clinical Applications and Future Possibilities.中风基因组学:当前知识、临床应用及未来可能性
Brain Sci. 2022 Feb 23;12(3):302. doi: 10.3390/brainsci12030302.
3
CARASIL; The Backache, Baldness, Brain Attack Syndrome: The Indian Scenario.
伴皮质下梗死和白质脑病的常染色体隐性遗传性脑动脉病;背痛、秃头、脑卒综合征:印度的情况
Ann Indian Acad Neurol. 2020 Jul-Aug;23(4):559-561. doi: 10.4103/aian.AIAN_31_20. Epub 2020 Jun 29.
4
Identification and Clinical Analysis of the First Nonsense Mutation in the Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa.急性脑病和色素性视网膜炎家族中该基因首个无义突变的鉴定与临床分析
Front Neurol. 2020 May 5;11:319. doi: 10.3389/fneur.2020.00319. eCollection 2020.