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 …
HTRA1-Related Cerebral Small Vessel Disease: A Review of the Literature
M Uemura, H Nozaki, T Kato, A Koyama… - Frontiers in …, 2020 - frontiersin.org
Cerebral autosomal recessive arteriopathy with subcortical infarcts and
leukoencephalopathy (CARASIL) is clinically characterized by early-onset dementia, stroke …
leukoencephalopathy (CARASIL) is clinically characterized by early-onset dementia, stroke …
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 …
Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease
I Di Donato, S Bianchi, GN Gallus… - CNS neuroscience & …, 2017 - Wiley Online Library
Aims Cerebral small vessel disease (SVD) is the leading cause of vascular dementia.
Although the most of cases are sporadic, familial monogenic causes have been identified in …
Although the most of cases are sporadic, familial monogenic causes have been identified in …
Two novel heterozygous HTRA1 mutations in two pedigrees with cerebral small vessel disease families
W Zhang, F Xie, P Lu - Neurological Sciences, 2018 - Springer
Heterozygous HTRA1 mutations, recently, have been reported as a cause of autosomal
dominant hereditary cerebral small vessel disease (CSVD). We herein describe clinical and …
dominant hereditary cerebral small vessel disease (CSVD). We herein describe clinical 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 …
Novel mutations in HTRA1‐related cerebral small vessel disease and comparison with CADASIL
C Zhang, H Zheng, X Li, S Li, W Li… - Annals of Clinical …, 2022 - Wiley Online Library
Objective There is evidence showing both heterozygous HTRA1 and homozygous HTRA1
mutations as causal for familial cerebral small vessel disease (CSVD). The clinical and …
mutations as causal for familial cerebral small vessel disease (CSVD). The clinical and …
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 …
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 …