Satoko Miyatake

Yokohama, Japan

Last Updated: 09/26/2026

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Found 239 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

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

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

Correction: Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.

Correction: Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.

Journal: Journal of human genetics
Published: November 09, 2025

Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.

Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.

Journal: Journal of human genetics
Published: October 27, 2025

Mexiletine prevents transient heart failure in a polymicrogyria child with an ATP1A3 variant: a case report.

Mexiletine prevents transient heart failure in a polymicrogyria child with an ATP1A3 variant: a case report.

Journal: European heart journal. Case reports
Published: September 15, 2025

Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity.

Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity.

Journal: Journal of human genetics
Published: September 08, 2025

Long-read genomic analyses to elucidate hidden structural variations associated with MECP2 duplication syndrome.

Long-read genomic analyses to elucidate hidden structural variations associated with MECP2 duplication syndrome.

Journal: Journal of human genetics
Published: September 06, 2025
Showing 1-12 of 239

Last Updated: 09/26/2026