Naomichi Matsumoto

Crest
Kawaguchi, Japan

Last Updated: 09/26/2026

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Found 745 publications

An N-terminal CDC42 T43I variant reveals the mechanism of pyrin inflammasome activation.

An N-terminal CDC42 T43I variant reveals the mechanism of pyrin inflammasome activation.

Journal: Science immunology

Published: August 07, 2026

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

Journal: Clinical genetics

Published: June 05, 2026

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes.

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes.

Journal: Clinical genetics

Published: May 06, 2026

Cleidocranial dysplasia caused by a novel de novo RUNX2 splice-site variant.

Cleidocranial dysplasia caused by a novel de novo RUNX2 splice-site variant.

Journal: Human genome variation

Published: April 21, 2026

Clinical and molecular expansion of SSR4-CDG: an adult patient and pathogenic interpretation of an in-frame variant.

Clinical and molecular expansion of SSR4-CDG: an adult patient and pathogenic interpretation of an in-frame variant.

Journal: Journal of human genetics

Published: April 13, 2026

Episodic ataxia type 2 with a novel CACNA1A variant: A video case report.

Episodic ataxia type 2 with a novel CACNA1A variant: A video case report.

Journal: Clinical neurology and neurosurgery

Published: March 29, 2026

Clinical features of four unrelated Japanese patients with autosomal recessive spinocerebellar ataxia type 32.

Clinical features of four unrelated Japanese patients with autosomal recessive spinocerebellar ataxia type 32.

Journal: Journal of human genetics

Published: March 02, 2026

SLF2 and SMC5 dysfunction drives HSC aging and predisposes to MDS, defining a new inherited bone marrow failure syndrome.

SLF2 and SMC5 dysfunction drives HSC aging and predisposes to MDS, defining a new inherited bone marrow failure syndrome.

Journal: Leukemia

Published: February 05, 2026

CUBN-AMN pathway loss in chronic benign proteinuria.

CUBN-AMN pathway loss in chronic benign proteinuria.

Journal: Kidney international

Published: January 27, 2026

TBK1-Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia.

TBK1-Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia.

Journal: Annals of clinical and translational neurology

Published: January 09, 2026

Haplotype analysis of spinocerebellar ataxia type 36 suggests a shared permissive core haplotype across populations.

Haplotype analysis of spinocerebellar ataxia type 36 suggests a shared permissive core haplotype across populations.

Journal: Journal of human genetics

Published: December 04, 2025

A Case Report of Pitt-Hopkins Syndrome With Seasonal Exacerbation of Respiratory Dysregulation.

A Case Report of Pitt-Hopkins Syndrome With Seasonal Exacerbation of Respiratory Dysregulation.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: November 22, 2025

Showing 1-12 of 745

Last Updated: 09/26/2026