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
Early-onset alopecia and variable age of cerebrovascular disease onset in a Japanese family with a heterozygous HTRA1 mutation.
Yasuda M et al.
Journal of the Neurological Sciences, 2025
A case of coexisting heterozygous NOTCH3 and HTRA1 mutations in cerebral small vessel disease.
Yamashiro M et al.
Human Genome Variation, 2025
HTRA1-related cerebral small-vessel disease causes cerebral microbleeds on the brainstem surface.
Kobayashi Y et al.
Journal of the Neurological Sciences, 2024
Rational correction of pathogenic conformational defects in HTRA1.
Beaufort N et al.
Nature Communications, 2024
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
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
A novel heterozygous HTRA1 mutation in an Asian family with CADASIL-like disease.
Cao H et al.
Journal of Clinical Laboratory Analysis, 2022
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
HTRA1-Related Cerebral Small Vessel Disease: A Review of the Literature.
Uemura M et al.
Frontiers in Neurology, 2020
A new Italian family with HTRA1 mutation associated with autosomal-dominant variant of CARASIL: Are we pointing towards a disease spectrum?
Favaretto S et al.
Journal of the Neurological Sciences, 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 HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.
Verdura E et al.
Brain : a Journal of Neurology, 2015
Autosomal Dominant Cerebral Small Vessel Disease in HTRA1 Gene Mutation.
Mahale RR et al.
Annals of Indian Academy of Neurology, 0