A Chinese CARASIL patient caused by novel compound heterozygous mutations in HTRA1
F Xie - Journal of Stroke and Cerebrovascular Diseases, 2018 - Elsevier
Our objective is to reported a Chinese CARASIL patient caused by novel compound
heterozygous mutations in HTRA1. Detailed clinical and neuroimaging examination were …
heterozygous mutations in HTRA1. Detailed clinical and neuroimaging examination were …
[HTML][HTML] Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
YM Li, W Jia, T Xin, YQ Fang - Frontiers in Genetics, 2023 - frontiersin.org
Background: Cerebral autosomal recessive arteriopathy with subcortical infarcts and
leukoencephalopathy (CARASIL) is an autosomal recessive disorder characterized by …
leukoencephalopathy (CARASIL) is an autosomal recessive disorder characterized by …
Two unique mutations in HTRA1-related cerebral small vessel disease in north America and africa and literature review
T Shang, M Pinho, D Ray, A Khera - Journal of Stroke and Cerebrovascular …, 2021 - Elsevier
Objective To describe and compare two cases of North American and African patients who
were diagnosed with HTRA1-related cerebral small vessel disease (CSVD) with …
were diagnosed with HTRA1-related cerebral small vessel disease (CSVD) with …
Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases: Genetic, Clinical, and Pathologic Findings From 3 Chinese Pedigrees
T Yao, J Zhu, X Wu, X Li, Y Fu, Y Wang… - Neurology …, 2022 - AAN Enterprises
Background and Objectives Cerebral autosomal recessive arteriopathy with subcortical
infarcts and leukoencephalopathy (CARASIL) is a rare hereditary cerebrovascular disease …
infarcts and leukoencephalopathy (CARASIL) is a rare hereditary cerebrovascular disease …
Cerebral small vessel disease due to a unique heterozygous HTRA1 mutation in an African man
OJ Oluwole, H Ibrahim, D Garozzo… - Neurology …, 2019 - AAN Enterprises
Objective To describe the case of an African patient who was diagnosed with cerebral
autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy …
autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy …
Shifting the CARASIL paradigm: report of a non-Asian family and literature review
I Menezes Cordeiro, H Nzwalo, F Sá, RB Ferreira… - Stroke, 2015 - Am Heart Assoc
Background and Purpose—Cerebral autosomal recessive arteriopathy with subcortical
infarcts and leukoencephalopathy (CARASIL) is a rare form of nonhypertensive cerebral …
infarcts and leukoencephalopathy (CARASIL) is a rare form of nonhypertensive cerebral …
A CARASIL patient from Americas with novel mutation and atypical features: case presentation and literature review
M Ibrahimi, H Nozaki, A Lee, O Onodera… - Cerebrovascular …, 2017 - karger.com
Objective: Reporting a novel mutation in the HTRA1 gene in a CARASIL patient from
Americas. Methods: Clinical presentation and neuroimaging were consistent with CARASIL …
Americas. Methods: Clinical presentation and neuroimaging were consistent with CARASIL …
A case of leukoencephalopathy and small vessels disease caused by a novel HTRA1 homozygous mutation
Cerebral autosomal recessive arteriopathy with subcortical infarcts and
leukoencephalopathy (CARASIL) is a heritable, rare small vessel disease, which is caused …
leukoencephalopathy (CARASIL) is a heritable, rare small vessel disease, which is caused …
[HTML][HTML] Identified novel heterozygous HTRA1 pathogenic variants in Chinese patients with HTRA1-associated dominant cerebral small vessel disease
MJ Chen, Y Zhang, WJ Luo, HL Dong, Q Wei… - Frontiers in …, 2022 - frontiersin.org
Background: Homozygous and compound heterozygous mutations in HTRA1 cause
cerebral autosomal recessive arteriopathy with subcortical infarcts and …
cerebral autosomal recessive arteriopathy with subcortical infarcts and …
Characterization of Heterozygous HTRA1 Mutations in Taiwanese Patients With Cerebral Small Vessel Disease
Background and Purpose—Homozygous and compound heterozygous mutations in the
high temperature requirement serine peptidase A1 gene (HTRA1) cause cerebral autosomal …
high temperature requirement serine peptidase A1 gene (HTRA1) cause cerebral autosomal …