Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study.
Tozkir H et al.
Genes, 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
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
Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.
Li YM et al.
Frontiers in Genetics, 2023
Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.
Cho BPH et al.
Jama Neurology, 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 of Finnish patients with vascular cognitive impairment.
Mönkäre S et al.
European Journal of Human Genetics : Ejhg, 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
Global Assessment of Mendelian Stroke Genetic Prevalence in 101 635 Individuals From 7 Ethnic Groups.
Grami N et al.
Stroke, 2020
HTRA1-Related Cerebral Small Vessel Disease: A Review of the Literature.
Uemura M et al.
Frontiers in Neurology, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
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
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
Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.
Verdura E et al.
Brain : a Journal of Neurology, 2015
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
Update on several/certain adult-onset genetic leukoencephalopathies: clinical signs and molecular confirmation.
Di Donato I et al.
Journal of Alzheimer's Disease : Jad, 2014
[Molecular pathogenesis of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy].
Shiga A et al.
Brain and Nerve = Shinkei Kenkyu No Shinpo, 2010