One Disease with two Faces: Semidominant Inheritance of a Novel HTRA1 Mutation in a Consanguineous Family-Reference-Cited by-同舟云学术

One Disease with two Faces: Semidominant Inheritance of a Novel HTRA1 Mutation in a Consanguineous Family

Published:2021-09 Issue:9 Volume:30 Page:105997
ISSN:1052-3057
Container-title:Journal of Stroke and Cerebrovascular Diseases
language:en
Short-container-title:Journal of Stroke and Cerebrovascular Diseases

Author:

Bekircan-Kurt Can Ebru^ORCID,Çetinkaya Arda^ORCID,Gocmen Rahsan,Koşukcu Can^ORCID,Soylemezoglu Figen,Arsava Ethem Murat^ORCID,Tuncer Asli,Erdem-Ozdamar Sevim,Akarsu Nurten A.^ORCID,Topcuoglu Mehmet Akif^ORCID

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine,Neurology (clinical),Rehabilitation,Surgery

Reference23 articles.

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2. Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease;Hara;N Engl J Med,2009

3. Cerebral autosomal dominant Arteriopathy with subcortical infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects;Di Donato;BMC Med,2017

4. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia;Joutel;Nature,1996

5. Cerebral autosomal recessive Arteriopathy with subcortical infarcts and Leukoencephalopathy (CARASIL): from discovery to gene identification;Fukutake;J Stroke Cerebrovasc Dis,2011

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Vascular Leukoencephalopathy Associated Chorea Due to A Heterozygous Htra 1 Variant: Novel Presentation of Cadasil Type II;Movement Disorders Clinical Practice;2024-08-06

2. Progress in the Study of the Role and Mechanism of HTRA1 in Diseases Related to Vascular Abnormalities;International Journal of General Medicine;2024-04

3. Novel mutations in HTRA1 ‐related cerebral small vessel disease and comparison with CADASIL;Annals of Clinical and Translational Neurology;2022-09

4. Identified novel heterozygous HTRA1 pathogenic variants in Chinese patients with HTRA1-associated dominant cerebral small vessel disease;Frontiers in Genetics;2022-08-10