Mitsuko N. Nakashima

Saga, Japan

Last Updated: 09/26/2026

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Found 251 publications

Age-dependent electroclinical evolution from focal seizures to epileptic spasms in NUSAP1-related malformations of cortical development.

Age-dependent electroclinical evolution from focal seizures to epileptic spasms in NUSAP1-related malformations of cortical development.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: May 12, 2026

Utility of Urine-Derived Cells for Characterizing Aberrant Splicing Caused by a Novel Deep Intronic L1CAM Variant.

Utility of Urine-Derived Cells for Characterizing Aberrant Splicing Caused by a Novel Deep Intronic L1CAM Variant.

Journal: Annals of human genetics

Published: December 08, 2025

Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder.

Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: August 04, 2025

A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant.

A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant.

Journal: Journal of human genetics

Published: July 13, 2025

A key gene modulating oxytocin efficacy in autism: genome-wide discovery and verification in randomized controlled trials datasets.

A key gene modulating oxytocin efficacy in autism: genome-wide discovery and verification in randomized controlled trials datasets.

Journal: Molecular psychiatry

Published: June 25, 2025

Identification of 5' untranslated region variants in genes involved in neurodevelopmental disorders.

Identification of 5' untranslated region variants in genes involved in neurodevelopmental disorders.

Journal: Journal of human genetics

Published: June 21, 2025

Muscle and thyroid manifestations in TANGO2 deficiency disorder: a case study of novel biallelic variants.

Muscle and thyroid manifestations in TANGO2 deficiency disorder: a case study of novel biallelic variants.

Journal: Brain & development

Published: April 10, 2025

Immunohistochemical and molecular evolutionary features of jejunoileal adenocarcinoma unveiled through comparative analysis with colorectal adenocarcinoma.

Immunohistochemical and molecular evolutionary features of jejunoileal adenocarcinoma unveiled through comparative analysis with colorectal adenocarcinoma.

Journal: Neoplasia (New York, N.Y.)

Published: February 09, 2025

Compound heterozygous ZNF335 variants in a patient with microcephaly, refractory epilepsy, and severe developmental delay: A case report and literature review.

Compound heterozygous ZNF335 variants in a patient with microcephaly, refractory epilepsy, and severe developmental delay: A case report and literature review.

Journal: Congenital anomalies

Published: February 03, 2025

Clinical and genetic spectrum of patients with IRF2BPL syndrome.

Clinical and genetic spectrum of patients with IRF2BPL syndrome.

Journal: Journal of human genetics

Published: August 08, 2024

Homozygous Microdeletion Involving Exon 1 of ERCC8 and NDUFAF2 With Uniparental Isodisomy of Chromosome 5.

Homozygous Microdeletion Involving Exon 1 of ERCC8 and NDUFAF2 With Uniparental Isodisomy of Chromosome 5.

Journal: Molecular genetics & genomic medicine

Published: July 01, 2024

Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield.

Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield.

Journal: Journal of human genetics

Published: June 26, 2024

Showing 1-12 of 251

Last Updated: 09/26/2026