Ryo Takeguchi

Asahikawa, Japan

Last Updated: 09/26/2026

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Found 19 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

Gallstone Ileus in a 25-Year-Old Female With Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: A Case Report.

Gallstone Ileus in a 25-Year-Old Female With Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: A Case Report.

Journal: Case reports in gastrointestinal medicine

Published: July 12, 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

A novel HECW2 variant in an infant with congenital long QT syndrome.

A novel HECW2 variant in an infant with congenital long QT syndrome.

Journal: Human genome variation

Published: April 14, 2023

Clinical characteristics of muscle cramps in hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome associated with a novel COL4A1 pathogenic variant: A family case study.

Clinical characteristics of muscle cramps in hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome associated with a novel COL4A1 pathogenic variant: A family case study.

Journal: Brain & development

Published: November 08, 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

CDKL5 deficiency causes epileptic seizures independent of cellular mosaicism.

CDKL5 deficiency causes epileptic seizures independent of cellular mosaicism.

Journal: Journal of the neurological sciences

Published: July 20, 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

Novel NARS2 variant causing leigh syndrome with normal lactate levels.

Novel NARS2 variant causing leigh syndrome with normal lactate levels.

Journal: Human genome variation

Published: February 26, 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

Showing 1-12 of 19

Last Updated: 09/26/2026