Junhui H. Yuan

Kagoshima, Japan

Last Updated: 09/26/2026

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Found 22 publications

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

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

Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible.

Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible.

Journal: Biomedicines

Published: June 07, 2022

Genetic and clinical features of cerebellar ataxia with RFC1 biallelic repeat expansions in Japan.

Genetic and clinical features of cerebellar ataxia with RFC1 biallelic repeat expansions in Japan.

Journal: Frontiers in neurology

Published: May 25, 2022

Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease.

Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease.

Journal: Annals of clinical and translational neurology

Published: March 21, 2022

An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families.

An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families.

Journal: Journal of human genetics

Published: November 10, 2021

Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan.

Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan.

Journal: Cerebellum (London, England)

Published: August 22, 2021

Repeated hyperhidrosis and chilblain-like swelling with ulceration of the fingers and toes in hereditary sensory and autonomic neuropathy type II.

Repeated hyperhidrosis and chilblain-like swelling with ulceration of the fingers and toes in hereditary sensory and autonomic neuropathy type II.

Journal: The Journal of dermatology

Published: April 28, 2018

Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.

Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.

Journal: Brain : a journal of neurology

Published: August 31, 2017

Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.

Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.

Journal: Journal of the peripheral nervous system : JPNS

Published: April 30, 2017

Showing 1-12 of 22

Last Updated: 09/26/2026