Koyo Tsujikawa

Nagoya, Japan

Last Updated: 09/26/2026

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Found 15 publications

Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis.

Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis.

Journal: Molecular genetics & genomic medicine
Published: March 23, 2026

Neuronal TDP-43 regulates myelin formation via neurexin 1 mRNA stabilization.

Neuronal TDP-43 regulates myelin formation via neurexin 1 mRNA stabilization.

Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: February 25, 2026

A Family with Patients Manifesting Different Phenotypes of Neuromuscular Disease Depending on the CGG Repeat Number in LRP12.

A Family with Patients Manifesting Different Phenotypes of Neuromuscular Disease Depending on the CGG Repeat Number in LRP12.

Journal: Internal medicine (Tokyo, Japan)
Published: October 22, 2025

TFIIH-p52ΔC defines a ninth xeroderma pigmentosum complementation-group XP-J and restores TFIIH stability to p8-defective trichothiodystrophy.

TFIIH-p52ΔC defines a ninth xeroderma pigmentosum complementation-group XP-J and restores TFIIH stability to p8-defective trichothiodystrophy.

Journal: The Journal of clinical investigation
Published: May 23, 2025

Clinicopathological features of graft versus host disease-associated myositis.

Clinicopathological features of graft versus host disease-associated myositis.

Journal: Annals of clinical and translational neurology
Published: August 17, 2023

Dysregulation of Aldh1a2 underlies motor neuron degeneration in spinal muscular atrophy.

Dysregulation of Aldh1a2 underlies motor neuron degeneration in spinal muscular atrophy.

Journal: Neuroscience research
Published: January 29, 2023

Metabolome and transcriptome analysis on muscle of sporadic inclusion body myositis.

Metabolome and transcriptome analysis on muscle of sporadic inclusion body myositis.

Journal: Annals of clinical and translational neurology
Published: July 12, 2022

Actin-binding protein filamin-A drives tau aggregation and contributes to progressive supranuclear palsy pathology.

Actin-binding protein filamin-A drives tau aggregation and contributes to progressive supranuclear palsy pathology.

Journal: Science advances
Published: May 25, 2022

Clinical implication of denervation in sporadic inclusion body myositis.

Clinical implication of denervation in sporadic inclusion body myositis.

Journal: Journal of the neurological sciences
Published: March 07, 2022

Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia.

Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia.

Journal: Clinical immunology (Orlando, Fla.)
Published: November 26, 2020

HMGCR antibody-associated myopathy as a paraneoplastic manifestation of esophageal carcinoma.

HMGCR antibody-associated myopathy as a paraneoplastic manifestation of esophageal carcinoma.

Journal: Neurology
Published: December 26, 2015

Distinctive distribution of brain volume reductions in MELAS and mitochondrial DNA A3243G mutation carriers: A voxel-based morphometric study.

Distinctive distribution of brain volume reductions in MELAS and mitochondrial DNA A3243G mutation carriers: A voxel-based morphometric study.

Journal: Mitochondrion
Published: December 20, 2015
Showing 1-12 of 15

Last Updated: 09/26/2026