Hiroyuki Ishiura

Okayama, Japan

Last Updated: 09/26/2026

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Found 224 publications

Ketogenic diet reintroduction in an adult patient with glucose transporter type 1 deficiency syndrome

Ketogenic diet reintroduction in an adult patient with glucose transporter type 1 deficiency syndrome

Journal: Rinsho shinkeigaku = Clinical neurology

Published: August 10, 2026

Survey on the involvement of Japanese neurologists in genetic medicine

Survey on the involvement of Japanese neurologists in genetic medicine

Journal: Rinsho shinkeigaku = Clinical neurology

Published: June 17, 2026

Direct glia-to-neuron conversion mitigates hippocampal damage in a vascular dementia mouse model.

Direct glia-to-neuron conversion mitigates hippocampal damage in a vascular dementia mouse model.

Journal: Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism

Published: April 11, 2026

Enhanced calcium activity and transcriptomic alterations in iPSC-derived neurons from BAFME patients with repeat expansions.

Enhanced calcium activity and transcriptomic alterations in iPSC-derived neurons from BAFME patients with repeat expansions.

Journal: Neuroscience research

Published: April 08, 2026

Frontotemporal Lobar Degeneration-TDP Type C With Striatal Glial Cytoplasmic Inclusions and Motor Neuron Degeneration.

Frontotemporal Lobar Degeneration-TDP Type C With Striatal Glial Cytoplasmic Inclusions and Motor Neuron Degeneration.

Journal: Neuropathology and applied neurobiology

Published: March 24, 2026

Vitamin K1 as a screening marker to facilitate the genetic diagnosis of class I familial hypobetalipoproteinemia: A prospective cohort study with a systematic review analysis.

Vitamin K1 as a screening marker to facilitate the genetic diagnosis of class I familial hypobetalipoproteinemia: A prospective cohort study with a systematic review analysis.

Journal: Journal of clinical lipidology

Published: December 24, 2025

Novel in-frame duplication variant of SOD1 in a Japanese family with familial amyotrophic lateral sclerosis.

Novel in-frame duplication variant of SOD1 in a Japanese family with familial amyotrophic lateral sclerosis.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration

Published: December 03, 2025

Immuno-deficient features of thymoma-associated myasthenia gravis patients with hypogammaglobulinemia: A condition comparable to Good's syndrome.

Immuno-deficient features of thymoma-associated myasthenia gravis patients with hypogammaglobulinemia: A condition comparable to Good's syndrome.

Journal: Journal of neuroimmunology

Published: November 20, 2025

Genotype-phenotype correlations in neuronal intranuclear inclusion disease-related retinopathy with CGG repeat increases in NOTCH2NLC.

Genotype-phenotype correlations in neuronal intranuclear inclusion disease-related retinopathy with CGG repeat increases in NOTCH2NLC.

Journal: Journal of neurology

Published: November 03, 2025

Compound heterozygosity of a novel missense variant and exonic deletion in hypomyelinating leukodystrophy 15.

Compound heterozygosity of a novel missense variant and exonic deletion in hypomyelinating leukodystrophy 15.

Journal: Neurogenetics

Published: October 30, 2025

Erratum: Vanishing White Matter Disease With EIF2B2 c.254T>A Variant: Mild Clinical and MRI Findings.

Erratum: Vanishing White Matter Disease With EIF2B2 c.254T>A Variant: Mild Clinical and MRI Findings.

Journal: Neurology. Genetics

Published: October 27, 2025

The utility of Gold Coast criteria for amyotrophic lateral sclerosis.

The utility of Gold Coast criteria for amyotrophic lateral sclerosis.

Journal: Journal of the neurological sciences

Published: October 10, 2025

Showing 1-12 of 224

Last Updated: 09/26/2026