Heterozygous Pathogenic and Likely Pathogenic Symptomatic HTRA1 Variant Carriers in Cerebral Small Vessel Disease
SY Xu, HJ Li, S Li, QQ Ren, JL Liang… - International Journal of …, 2023 - Taylor & Francis
High temperature requirement serine peptidase A1 (HTRA1) related cerebral small vessel
disease (CSVD) includes both symptomatic heterozygous HTRA1 variant carrier and …
disease (CSVD) includes both symptomatic heterozygous HTRA1 variant carrier and …
HTRA1-related autosomal dominant cerebral small vessel disease
JY Liu, YC Zhu, LX Zhou, YP Wei, CH Mao… - Chinese Medical …, 2021 - mednexus.org
Background: Homozygous or compound heterozygous mutations in high temperature
requirement serine peptidase A1 (HTRA1) gene are responsible for cerebral autosomal …
requirement serine peptidase A1 (HTRA1) gene are responsible for cerebral autosomal …
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 …
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 …
Genotype–phenotype correlations of heterozygous HTRA1-related cerebral small vessel disease: case report and systematic review
H Zhang, X Qin, Y Shi, X Gao, F Wang, H Wang… - neurogenetics, 2021 - Springer
Cerebral autosomal recessive arteriopathy with subcortical infarcts and
leukoencephalopathy (CARASIL) is caused by biallelic HTRA1 pathogenic variants. Recent …
leukoencephalopathy (CARASIL) is caused by biallelic HTRA1 pathogenic variants. Recent …
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review
W Chen, Y Wang, S Huang, X Yang, L Shen… - Frontiers in …, 2022 - frontiersin.org
Background Homozygous or compound heterozygous mutations in the high-temperature
requirement A serine protease 1 gene (HTRA1) elicits cerebral autosomal recessive …
requirement A serine protease 1 gene (HTRA1) elicits cerebral autosomal recessive …
Heterozygous HTRA1 mutations in Taiwanese patients with cerebral small vessel disease
Background: Cerebral autosomal recessive arteriopathy with subcortical infarcts and
leukoencephalopathy (CARASIL) is an autosomal recessive inherited cerebral small vessel …
leukoencephalopathy (CARASIL) is an autosomal recessive inherited cerebral small vessel …
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 …
Report of two pedigrees with heterozygous HTRA1 variants‐related cerebral small vessel disease and literature review
H Zhou, B Jiao, Z Ouyang, Q Wu… - Molecular Genetics & …, 2022 - Wiley Online Library
Background Biallelic HTRA1 pathogenic variants are associated with autosomal recessive
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). Recent …
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). Recent …
One disease with two faces: Semidominant inheritance of a novel HTRA1 mutation in a consanguineous family
CE Bekircan-Kurt, A Çetinkaya, R Gocmen… - Journal of Stroke and …, 2021 - Elsevier
Objectives To identify the underlying genetic defect for a consanguineous family with an
unusually high number of members affected by cerebral small vessel disease. Materials and …
unusually high number of members affected by cerebral small vessel disease. Materials and …