Fumikazu Kojima

Kagoshima, Japan

Last Updated: 09/26/2026

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Found 21 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

Longitudinal motor function and biomarker correlates in treated adult spinal muscular atrophy: a single-center cohort study.

Longitudinal motor function and biomarker correlates in treated adult spinal muscular atrophy: a single-center cohort study.

Journal: Frontiers in neurology

Published: May 01, 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

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

INF2-Related Charcot-Marie-Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights.

INF2-Related Charcot-Marie-Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights.

Journal: Annals of clinical and translational neurology

Published: August 06, 2025

Tibial to ulnar nerve amplitude ratio as a marker of length-dependent neuropathy.

Tibial to ulnar nerve amplitude ratio as a marker of length-dependent neuropathy.

Journal: Clinical neurophysiology practice

Published: August 01, 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

Nationwide Characterization of MFN2-Related CMT in 176 Japanese Patients: Clinical and Genetic Insights.

Nationwide Characterization of MFN2-Related CMT in 176 Japanese Patients: Clinical and Genetic Insights.

Journal: Annals of clinical and translational neurology

Published: July 19, 2025

Charcot-Marie-Tooth-like presentation in giant axonal neuropathy: clinical variability and prevalence in a large Japanese case series.

Charcot-Marie-Tooth-like presentation in giant axonal neuropathy: clinical variability and prevalence in a large Japanese case series.

Journal: Journal of neurology

Published: June 02, 2025

Frameshift and Copy Number Variants in SACS-Related Neuropathy.

Frameshift and Copy Number Variants in SACS-Related Neuropathy.

Journal: Neurology. Genetics

Published: April 28, 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

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

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Last Updated: 09/26/2026