Yuji Okamoto

Kagoshima, 8908544, Japan

Last Updated: 09/26/2026

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Found 44 publications

Arginine ameliorates motor and survival deficits in MFN2-Deficient Drosophila models.

Arginine ameliorates motor and survival deficits in MFN2-Deficient Drosophila models.

Journal: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

Published: September 10, 2025

Respiratory complex I deficiency caused by a novel multi-exonic PUS1 deletion.

Respiratory complex I deficiency caused by a novel multi-exonic PUS1 deletion.

Journal: Journal of human genetics

Published: September 08, 2025

Biallelic variants in FAT3 cause axonal neuropathy with multisystem neurodevelopmental features.

Biallelic variants in FAT3 cause axonal neuropathy with multisystem neurodevelopmental features.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 26, 2025

Systemic mitochondrial involvement in mitochondrial myopathy with episodic hyper-creatine kinase-emia: insights from an autopsy case.

Systemic mitochondrial involvement in mitochondrial myopathy with episodic hyper-creatine kinase-emia: insights from an autopsy case.

Journal: Journal of neurology

Published: July 18, 2025

Pleiotropic effects of MORC2 derive from its epigenetic signature.

Pleiotropic effects of MORC2 derive from its epigenetic signature.

Journal: Brain : a journal of neurology

Published: January 11, 2025

SOD1-related inherited peripheral neuropathies in a Japanese cohort: genetic variants and clinical insights.

SOD1-related inherited peripheral neuropathies in a Japanese cohort: genetic variants and clinical insights.

Journal: Journal of neurology

Published: November 24, 2024

Single-vesicle imaging reveals actin-dependent spatial restriction of vesicles at the active zone, essential for sustained transmission.

Single-vesicle imaging reveals actin-dependent spatial restriction of vesicles at the active zone, essential for sustained transmission.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: October 15, 2024

Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications.

Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications.

Journal: Acta neuropathologica communications

Published: June 19, 2024

Linking LRP12 CGG repeat expansion to inherited peripheral neuropathy.

Linking LRP12 CGG repeat expansion to inherited peripheral neuropathy.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: January 17, 2024

A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review.

A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review.

Journal: Neurogenetics

Published: December 01, 2023

Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan.

Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan.

Journal: Annals of clinical and translational neurology

Published: August 09, 2023

Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.

Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.

Journal: Journal of neurology

Published: July 05, 2023

Showing 1-12 of 44

Last Updated: 09/26/2026