Jun Mitsui

Tokyo, Japan

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 174 publications

Biallelic SIGMAR1 variants in early-onset distal hereditary motor neuropathy: A Japanese case series.

Biallelic SIGMAR1 variants in early-onset distal hereditary motor neuropathy: A Japanese case series.

Journal: Journal of neuromuscular diseases

Published: August 25, 2026

Subthreshold early white-matter hyperintensity increase predicts accelerated hippocampal and whole-brain atrophy in anti-amyloid-β immunotherapy.

Subthreshold early white-matter hyperintensity increase predicts accelerated hippocampal and whole-brain atrophy in anti-amyloid-β immunotherapy.

Journal: Journal of Alzheimer's disease : JAD

Published: August 08, 2026

Delayed appearance of bilateral cerebral peduncle lesions in autoimmune glial fibrillary acidic protein astrocytopathy: A serial MRI case series.

Delayed appearance of bilateral cerebral peduncle lesions in autoimmune glial fibrillary acidic protein astrocytopathy: A serial MRI case series.

Journal: Journal of the neurological sciences

Published: June 04, 2026

Comprehensive genomic analysis of five kindreds with multiple childhood leukemias: importance of individual functional analysis for rare ETV6 germline variants.

Comprehensive genomic analysis of five kindreds with multiple childhood leukemias: importance of individual functional analysis for rare ETV6 germline variants.

Journal: Human cell

Published: May 12, 2026

The LRRK2 G2385R Exonic Variant and Multiple System Atrophy: Findings from the Japan MSA Registry.

The LRRK2 G2385R Exonic Variant and Multiple System Atrophy: Findings from the Japan MSA Registry.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: April 27, 2026

Genetic spectrum and clinical features of PMP22 point mutations in Japanese Charcot-Marie-Tooth disease.

Genetic spectrum and clinical features of PMP22 point mutations in Japanese Charcot-Marie-Tooth disease.

Journal: Journal of neurology

Published: April 07, 2026

Transcriptionally Informed Nucleosome Profiling of Circulating Cell-Free DNA Predicts Breast Cancer Recurrence.

Transcriptionally Informed Nucleosome Profiling of Circulating Cell-Free DNA Predicts Breast Cancer Recurrence.

Journal: Cancer research communications

Published: April 06, 2026

Reply to the Letter to the Editor regarding "Clinical implications of progressive ventilatory impairment in multiple system atrophy and progressive supranuclear palsy".

Reply to the Letter to the Editor regarding "Clinical implications of progressive ventilatory impairment in multiple system atrophy and progressive supranuclear palsy".

Journal: Journal of the neurological sciences

Published: February 07, 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

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

Showing 1-12 of 174

Last Updated: 09/26/2026