Noriko Miyake

Tokyo, Japan

Last Updated: 09/26/2026

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Found 407 publications

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes.

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes.

Journal: Clinical genetics

Published: May 06, 2026

Loss-of-function variants in MARK2 cause neurodevelopmental disorder.

Loss-of-function variants in MARK2 cause neurodevelopmental disorder.

Journal: HGG advances

Published: November 19, 2025

Combined treatment with amlexanox and cytarabine induces apoptosis via the S100A6-Akt pathway in KMT2A::AFF1-positive acute lymphoblastic leukemia.

Combined treatment with amlexanox and cytarabine induces apoptosis via the S100A6-Akt pathway in KMT2A::AFF1-positive acute lymphoblastic leukemia.

Journal: Leukemia

Published: June 21, 2025

Blended Phenotypes in Individuals With Rare Diseases: A Brazilian Case Series.

Blended Phenotypes in Individuals With Rare Diseases: A Brazilian Case Series.

Journal: American journal of medical genetics. Part A

Published: April 03, 2025

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.

Journal: American journal of human genetics

Published: February 11, 2025

Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.

Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.

Journal: Genome medicine

Published: November 08, 2024

A Unique Case of MBD5 and CCM2 Deletions Leading to a Severe Neurological Phenotype With Prolonged Status Epilepticus.

A Unique Case of MBD5 and CCM2 Deletions Leading to a Severe Neurological Phenotype With Prolonged Status Epilepticus.

Journal: Clinical genetics

Published: November 07, 2024

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Journal: Nature genetics

Published: June 16, 2024

Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complications.

Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complications.

Journal: European journal of human genetics : EJHG

Published: May 05, 2024

Increase in cathepsin K gene expression in Duchenne muscular dystrophy skeletal muscle.

Increase in cathepsin K gene expression in Duchenne muscular dystrophy skeletal muscle.

Journal: Neuropathology : official journal of the Japanese Society of Neuropathology

Published: April 29, 2024

Reduced histone H3K4 trimethylation in oral mucosa of patients with DYT-KMT2B.

Reduced histone H3K4 trimethylation in oral mucosa of patients with DYT-KMT2B.

Journal: Parkinsonism & related disorders

Published: April 15, 2024

Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type II.

Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type II.

Journal: Journal of human genetics

Published: April 12, 2024

Showing 1-12 of 407

Last Updated: 09/26/2026