Yuichi Akaba

Asahikawa, Japan

Last Updated: 09/26/2026

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Found 15 publications

Mosaic Variant in Unilateral Woolly Hair in a Girl With PIK3CA-Related Overgrowth Spectrum.

Mosaic Variant in Unilateral Woolly Hair in a Girl With PIK3CA-Related Overgrowth Spectrum.

Journal: Congenital anomalies

Published: April 27, 2026

Comprehensive High-Depth Proteomic Analysis of Plasma Extracellular Vesicle-Containing Preparations in CDKL5 Deficiency Disorder.

Comprehensive High-Depth Proteomic Analysis of Plasma Extracellular Vesicle-Containing Preparations in CDKL5 Deficiency Disorder.

Journal: Biomedicines

Published: March 18, 2026

MECP2 duplication syndrome: Recent advances in pathophysiology and therapeutic perspectives.

MECP2 duplication syndrome: Recent advances in pathophysiology and therapeutic perspectives.

Journal: Brain & development

Published: March 12, 2025

miR-199a functions downstream of MeCP2 in neurons of MECP2 duplication syndrome models.

miR-199a functions downstream of MeCP2 in neurons of MECP2 duplication syndrome models.

Journal: iScience

Published: December 05, 2024

Neurophysiological and brain structural insights into cyclin-dependent kinase-like 5 deficiency disorder: Visual and auditory evoked potentials and MRI analysis.

Neurophysiological and brain structural insights into cyclin-dependent kinase-like 5 deficiency disorder: Visual and auditory evoked potentials and MRI analysis.

Journal: Journal of the neurological sciences

Published: March 26, 2024

miR-514a promotes neuronal development in human iPSC-derived neurons.

miR-514a promotes neuronal development in human iPSC-derived neurons.

Journal: Frontiers in cell and developmental biology

Published: November 12, 2022

Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review.

Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review.

Journal: Journal of clinical neuromuscular disease

Published: August 25, 2022

Structural and functional changes in the brains of patients with Rett syndrome: A multimodal MRI study.

Structural and functional changes in the brains of patients with Rett syndrome: A multimodal MRI study.

Journal: Journal of the neurological sciences

Published: April 26, 2022

Comprehensive Volumetric Analysis of Mecp2-Null Mouse Model for Rett Syndrome by T2-Weighted 3D Magnetic Resonance Imaging.

Comprehensive Volumetric Analysis of Mecp2-Null Mouse Model for Rett Syndrome by T2-Weighted 3D Magnetic Resonance Imaging.

Journal: Frontiers in neuroscience

Published: February 28, 2022

A Complex Phenotype of a Patient with Spastic Paraplegia Type 4 Caused by a Novel Pathogenic Variant in the SPAST Gene.

A Complex Phenotype of a Patient with Spastic Paraplegia Type 4 Caused by a Novel Pathogenic Variant in the SPAST Gene.

Journal: Case reports in neurology

Published: August 18, 2021

Early diagnosis of MECP2 duplication syndrome: Insights from a nationwide survey in Japan.

Early diagnosis of MECP2 duplication syndrome: Insights from a nationwide survey in Japan.

Journal: Journal of the neurological sciences

Published: October 05, 2020

Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome.

Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome.

Journal: Clinical case reports

Published: September 12, 2020

Showing 1-12 of 15

Last Updated: 09/26/2026