Shiroh Miura-Shibata
Toon, Japan
Last Updated: 09/26/2026
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Found 37 publications
A Japanese patient with hereditary spastic paraplegia with a rare KIF5A nonsense variant.
Journal: Human genome variation
Published: December 11, 2024
Hexanucleotide repeat expansion in SCA36 reduces the expression of genes involved in ribosome biosynthesis and protein translation.
Journal: Journal of human genetics
Published: November 07, 2023
Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A.
Journal: Human genome variation
Published: October 10, 2023
Oleic Acid-Containing Phosphatidylinositol Is a Blood Biomarker Candidate for SPG28.
Journal: Biomedicines
Published: March 07, 2023
Ingestion of a collagen peptide containing high concentrations of prolyl-hydroxyproline and hydroxyprolyl-glycine reduces advanced glycation end products levels in the skin and subcutaneous blood vessel walls: a randomized, double-blind, placebo-controlled study.
Journal: Bioscience, biotechnology, and biochemistry
Published: February 16, 2023
Case report: Frontotemporal dementia and amyotrophic lateral sclerosis caused by a missense variant (p.Arg89Trp) in the valosin-containing protein gene.
Journal: Frontiers in genetics
Published: February 01, 2023
A trial of topiramate for patients with hereditary spinocerebellar ataxia.
Journal: Clinical case reports
Published: September 29, 2022
A Japanese family with dystonia due to a pathogenic variant in SGCE.
Journal: Human genome variation
Published: June 24, 2022
Dermal advanced glycation end-product accumulation is associated with sarcopenia-related measures in middle-aged and older men.
Journal: Archives of gerontology and geriatrics
Published: February 13, 2022
A novel 1-bp deletion variant in DAG1 in Japanese familial asymptomatic hyper-CK-emia.
Journal: Human genome variation
Published: October 11, 2021
Vascular endothelial dysfunction associated with severity in multiple sclerosis.
Journal: Multiple sclerosis and related disorders
Published: May 25, 2021
Disease reactivation in a patient with secondary progressive multiple sclerosis after switching treatment from fingolimod to siponimod.
Journal: eNeurologicalSci
Published: March 29, 2021
Last Updated: 09/26/2026