Koichiro Doi

Tokyo, Japan

Last Updated: 09/26/2026

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Found 31 publications

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

Mid Holocene rapid thinning and rethickening of the East Antarctic ice sheet suggested by glacial isostatic adjustment.

Mid Holocene rapid thinning and rethickening of the East Antarctic ice sheet suggested by glacial isostatic adjustment.

Journal: Scientific reports

Published: March 24, 2025

Outbursts from an ice-marginal lake in Antarctica in 1969-1971 and 2017, revealed by aerial photographs and satellite data.

Outbursts from an ice-marginal lake in Antarctica in 1969-1971 and 2017, revealed by aerial photographs and satellite data.

Journal: Scientific reports

Published: May 17, 2023

Extraction of GRACE/GRACE-FO observed mass change patterns across Antarctica via independent component analysis (ICA).

Extraction of GRACE/GRACE-FO observed mass change patterns across Antarctica via independent component analysis (ICA).

Journal: Geophysical journal international

Published: May 03, 2021

Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population.

Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population.

Journal: Journal of human genetics

Published: July 28, 2020

Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis.

Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis.

Journal: Neurogenetics

Published: June 06, 2020

Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis.

Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis.

Journal: Scientific reports

Published: December 19, 2019

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

Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletion.

Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletion.

Journal: Parkinsonism & related disorders

Published: July 02, 2018

Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS.

Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: April 05, 2018

Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.

Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.

Journal: Cerebellum (London, England)

Published: September 13, 2017

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

Showing 1-12 of 31

Last Updated: 09/26/2026