Masahiro Uemura

Brain Science Branch
Niigata, Japan

Last Updated: 09/26/2026

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Found 27 publications

ABCC6 pathogenic variants are associated with hemorrhagic phenotypes in Japanese patients with severe cerebral small vessel disease.

ABCC6 pathogenic variants are associated with hemorrhagic phenotypes in Japanese patients with severe cerebral small vessel disease.

Journal: Scientific reports

Published: August 21, 2025

Early-onset alopecia and variable age of cerebrovascular disease onset in a Japanese family with a heterozygous HTRA1 mutation.

Early-onset alopecia and variable age of cerebrovascular disease onset in a Japanese family with a heterozygous HTRA1 mutation.

Journal: Journal of the neurological sciences

Published: April 03, 2025

"Chocolate Chip Sign" on Susceptibility-Weighted Imaging: A Novel Neuroimaging Biomarker for HTRA1-Related Cerebral Small Vessel Disease.

"Chocolate Chip Sign" on Susceptibility-Weighted Imaging: A Novel Neuroimaging Biomarker for HTRA1-Related Cerebral Small Vessel Disease.

Journal: Neurology. Genetics

Published: August 05, 2024

Missense Variants in COL4A1/2 Are Associated with Cerebral Aneurysms: A Case Report and Literature Review.

Missense Variants in COL4A1/2 Are Associated with Cerebral Aneurysms: A Case Report and Literature Review.

Journal: Neurology international

Published: December 09, 2023

Neuroprotective effects of oral metformin before stroke on cerebral small-vessel disease.

Neuroprotective effects of oral metformin before stroke on cerebral small-vessel disease.

Journal: Journal of the neurological sciences

Published: October 11, 2023

Inappropriate interpretation of non-pathogenic HTRA1 variant as pathogenic.

Inappropriate interpretation of non-pathogenic HTRA1 variant as pathogenic.

Journal: Annals of clinical and translational neurology

Published: January 14, 2023

High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease.

High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: July 04, 2022

A human induced pluripotent stem cell model from a patient with hereditary cerebral small vessel disease carrying a heterozygous R302Q mutation in HTRA1.

A human induced pluripotent stem cell model from a patient with hereditary cerebral small vessel disease carrying a heterozygous R302Q mutation in HTRA1.

Journal: Inflammation and regeneration

Published: June 06, 2022

Patients with heterozygous HTRA1-related cerebral small vessel disease misdiagnosed with other diseases: Two case reports.

Patients with heterozygous HTRA1-related cerebral small vessel disease misdiagnosed with other diseases: Two case reports.

Journal: Clinical neurology and neurosurgery

Published: February 14, 2022

Rethinking Lacunar Stroke: Beyond Fisher's Curse

Rethinking Lacunar Stroke: Beyond Fisher's Curse

Journal: Brain and nerve = Shinkei kenkyu no shinpo

Published: August 31, 2021

Corrigendum: HTRA1 Mutations Identified in Symptomatic Carriers Have the Property of Interfering the Trimer-Dependent Activation Cascade.

Corrigendum: HTRA1 Mutations Identified in Symptomatic Carriers Have the Property of Interfering the Trimer-Dependent Activation Cascade.

Journal: Frontiers in neurology

Published: August 09, 2021

Neuronal Intranuclear Inclusion Disease Presenting with Voice Tremor.

Neuronal Intranuclear Inclusion Disease Presenting with Voice Tremor.

Journal: Movement disorders clinical practice

Published: June 18, 2021

Showing 1-12 of 27

Last Updated: 09/26/2026