Kodai Kume

Hiroshima, Japan

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 48 publications

Letter to the Editor Response.

Letter to the Editor Response.

Journal: Journal of neurosurgery. Case lessons

Published: August 17, 2026

Neuropathological and Molecular Features Associated With a Heterozygous DNAJC7 Mutation in Amyotrophic Lateral Sclerosis.

Neuropathological and Molecular Features Associated With a Heterozygous DNAJC7 Mutation in Amyotrophic Lateral Sclerosis.

Journal: Neuropathology and applied neurobiology

Published: February 27, 2026

Aplastic or twig-like middle cerebral artery with the RNF213 variant: illustrative cases.

Aplastic or twig-like middle cerebral artery with the RNF213 variant: illustrative cases.

Journal: Journal of neurosurgery. Case lessons

Published: February 26, 2026

AGG repeat expansion and aggregation of BIN1 in multiple system atrophy.

AGG repeat expansion and aggregation of BIN1 in multiple system atrophy.

Journal: Brain : a journal of neurology

Published: November 03, 2025

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

An R83W mutation in Rab3A causes autosomal-dominant cerebellar ataxia.

An R83W mutation in Rab3A causes autosomal-dominant cerebellar ataxia.

Journal: Human molecular genetics

Published: July 15, 2025

Whole exome sequencing in Japanese spinocerebellar ataxia identifies novel variants.

Whole exome sequencing in Japanese spinocerebellar ataxia identifies novel variants.

Journal: Journal of human genetics

Published: June 27, 2025

Spinocerebellar ataxia type 2 followed by amyotrophic lateral sclerosis due to a pure CAG repeat expansion in ATXN2: a case report and literature review.

Spinocerebellar ataxia type 2 followed by amyotrophic lateral sclerosis due to a pure CAG repeat expansion in ATXN2: a case report and literature review.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: April 02, 2025

Optineurin knock-out forms TDP-43 aggregates to regulate TDP-43 protein levels despite autophagic up-regulation and aberrant TDP-43 expression.

Optineurin knock-out forms TDP-43 aggregates to regulate TDP-43 protein levels despite autophagic up-regulation and aberrant TDP-43 expression.

Journal: Neuroscience research

Published: November 27, 2024

Cholesterol ensures ciliary polycystin-2 localization to prevent polycystic kidney disease.

Cholesterol ensures ciliary polycystin-2 localization to prevent polycystic kidney disease.

Journal: Life science alliance

Published: September 26, 2024

C9orf72 repeat expansions in Wakayama: One potential cause of amyotrophic lateral sclerosis in the Kii Peninsula, Japan.

C9orf72 repeat expansions in Wakayama: One potential cause of amyotrophic lateral sclerosis in the Kii Peninsula, Japan.

Journal: Journal of the neurological sciences

Published: April 17, 2024

Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis.

Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis.

Journal: The Journal of experimental medicine

Published: October 17, 2023

Showing 1-12 of 48

Last Updated: 09/26/2026