Hidetoshi Date

Kodaira, Japan

Last Updated: 09/26/2026

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Found 14 publications

Redefining the Pathogenic CAG Repeat Units Threshold in CACNA1A for Spinocerebellar Ataxia Type 6.

Redefining the Pathogenic CAG Repeat Units Threshold in CACNA1A for Spinocerebellar Ataxia Type 6.

Journal: Neurology. Genetics

Published: October 15, 2024

Genome-wide association study identifies a new susceptibility locus in PLA2G4C for Multiple System Atrophy.

Genome-wide association study identifies a new susceptibility locus in PLA2G4C for Multiple System Atrophy.

Journal: medRxiv : the preprint server for health sciences

Published: July 10, 2023

Correction: A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity.

Correction: A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity.

Journal: Cerebellum (London, England)

Published: November 02, 2022

A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity.

A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity.

Journal: Cerebellum (London, England)

Published: October 04, 2022

Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures.

Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures.

Journal: Journal of human genetics

Published: December 31, 2021

Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body Myositis.

Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body Myositis.

Journal: Annals of neurology

Published: October 16, 2021

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.

Journal: Nature genetics

Published: August 30, 2018

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.

Journal: Nature genetics

Published: March 27, 2017

Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation.

Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation.

Journal: Neurobiology of aging

Published: February 20, 2017

Anti-TIF1-γ antibody and cancer-associated myositis: A clinicohistopathologic study.

Anti-TIF1-γ antibody and cancer-associated myositis: A clinicohistopathologic study.

Journal: Neurology

Published: December 30, 2015

Variants associated with Gaucher disease in multiple system atrophy.

Variants associated with Gaucher disease in multiple system atrophy.

Journal: Annals of clinical and translational neurology

Published: January 12, 2015

ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.

ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.

Journal: American journal of human genetics

Published: May 12, 2013

Showing 1-12 of 14

Last Updated: 09/26/2026