Associated Papers
Comparison of clinical and imaging features of cerebral small vessel disease associated with heterozygous HTRA1 and NOTCH3 mutations.
Lee YC et al.
International Journal of Stroke : Official Journal of the International Stroke Society, 2026
Coexistence of primary central nervous system vasculitis and a heterozygous HTRA1 mutation associated with a CARASIL-related clinical entity.
Noroña Vásconez EF et al.
Medicina Clinica, 2025
CADASIL: A NOTCH3-associated cerebral small vessel disease.
Yuan L et al.
Journal of Advanced Research, 2024
Rational correction of pathogenic conformational defects in HTRA1.
Beaufort N et al.
Nature Communications, 2024
Genetically proxied HTRA1 protease activity and circulating levels independently predict risk of ischemic stroke and coronary artery disease.
Malik R et al.
Nature Cardiovascular Research, 2024
Genetically proxied HTRA1 protease activity and circulating levels independently predict risk of ischemic stroke and coronary artery disease.
Dichgans M et al.
Research Square, 2023
Clinical features and pathogenicity assessment in patients with HTRA1-autosomal dominant disease.
He Z et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
Heterozygous Pathogenic and Likely Pathogenic Symptomatic HTRA1 Variant Carriers in Cerebral Small Vessel Disease.
Xu SY et al.
International Journal of General Medicine, 2023
Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.
Cho BPH et al.
Jama Neurology, 2022
Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases: Genetic, Clinical, and Pathologic Findings From 3 Chinese Pedigrees.
Yao T et al.
Neurology. Genetics, 2022
Report of two pedigrees with heterozygous HTRA1 variants-related cerebral small vessel disease and literature review.
Zhou H et al.
Molecular Genetics & Genomic Medicine, 2022
Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.
Whittaker E et al.
Journal of the American Heart Association, 2022
Whole-exome sequencing reveals a role of HTRA1 and EGFL8 in brain white matter hyperintensities.
Malik R et al.
Brain : a Journal of Neurology, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
HTRA1-related autosomal dominant cerebral small vessel disease.
Liu JY et al.
Chinese Medical Journal, 2020
HTRA1 expression profile and activity on TGF-β signaling in HTRA1 mutation carriers.
Fasano A et al.
Journal of Cellular Physiology, 2020
Beyond the Brain: Systematic Review of Extracerebral Phenotypes Associated With Monogenic Cerebral Small Vessel Disease.
Rannikmäe K et al.
Stroke, 2020
HTRA1-Related Cerebral Small Vessel Disease: A Review of the Literature.
Uemura M et al.
Frontiers in Neurology, 2020
Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome.
Giau VV et al.
International Journal of Molecular Sciences, 2019
Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features.
Ziaei A et al.
Neurology. Genetics, 2019
HTRA1 Mutations Identified in Symptomatic Carriers Have the Property of Interfering the Trimer-Dependent Activation Cascade.
Uemura M et al.
Frontiers in Neurology, 2019
Characterization of Heterozygous HTRA1 Mutations in Taiwanese Patients With Cerebral Small Vessel Disease.
Lee YC et al.
Stroke, 2018
Two novel heterozygous HTRA1 mutations in two pedigrees with cerebral small vessel disease families.
Zhang WY et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2018
Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease.
Di Donato I et al.
Cns Neuroscience & Therapeutics, 2017
Histopathologic Analysis of Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL): A Report of a New Genetically Confirmed Case and Comparison to 2 Previous Cases.
Ito S et al.
Journal of Neuropathology and Experimental Neurology, 2016
Unusual case of cerebral small vessel disease with a heterozygous nonsense mutation in HTRA1.
Tateoka T et al.
Journal of the Neurological Sciences, 2016
A novel HTRA1 exon 2 mutation causes loss of protease activity in a Pakistani CARASIL patient.
Khaleeli Z et al.
Journal of Neurology, 2015
Shifting the CARASIL paradigm: report of a non-Asian family and literature review.
Menezes Cordeiro I et al.
Stroke, 2015
Features of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.
Nozaki H et al.
Stroke, 2014
A novel mutation of the high-temperature requirement A serine peptidase 1 (HTRA1) gene in a Chinese family with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).
Chen Y et al.
The Journal of International Medical Research, 2013
[Dementia: progress in diagnosis and treatment; Topics, V. Recent topics; 4. Detection of novel dementia-related genes; 2) Dysregulation of TGF-beta family signaling and hereditary cerebral small vessel disease: insight into molecular pathogenesis of CARASIL].
Nozaki H et al.
Nihon Naika Gakkai Zasshi. the Journal of the Japanese Society of Internal Medicine, 2011
[Molecular pathogenesis of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy].
Shiga A et al.
Brain and Nerve = Shinkei Kenkyu No Shinpo, 2010
Autosomal Dominant Cerebral Small Vessel Disease in HTRA1 Gene Mutation.
Mahale RR et al.
Annals of Indian Academy of Neurology, 0