Kazushi Ichikawa

Yokohama, Japan

Last Updated: 09/26/2026

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Found 14 publications

Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.

Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.

Journal: NPJ genomic medicine

Published: March 11, 2025

Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes.

Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes.

Journal: Scientific reports

Published: March 09, 2023

A novel NONO variant that causes developmental delay and cardiac phenotypes.

A novel NONO variant that causes developmental delay and cardiac phenotypes.

Journal: Scientific reports

Published: November 18, 2022

Reply to the letter: "Is the variant m.9176T>C in MT-ATP6 truly responsibly for Leigh syndrome?"

Reply to the letter: "Is the variant m.9176T>C in MT-ATP6 truly responsibly for Leigh syndrome?"

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: August 17, 2020

Seventeen-year long-term survival of a case of neonatal nonketotic hyperglycinemia.

Seventeen-year long-term survival of a case of neonatal nonketotic hyperglycinemia.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: January 05, 2020

Epilepsy in Christianson syndrome: Two cases of Lennox-Gastaut syndrome and a review of literature.

Epilepsy in Christianson syndrome: Two cases of Lennox-Gastaut syndrome and a review of literature.

Journal: Epilepsy & behavior reports

Published: September 26, 2019

White matter microstructural changes in tuberous sclerosis: Evaluation by neurite orientation dispersion and density imaging (NODDI) and diffusion tensor images.

White matter microstructural changes in tuberous sclerosis: Evaluation by neurite orientation dispersion and density imaging (NODDI) and diffusion tensor images.

Journal: Scientific reports

Published: April 21, 2019

Late-onset Leigh syndrome with m.9176T>C mutation in the mitochondrial ATPase 6 gene.

Late-onset Leigh syndrome with m.9176T>C mutation in the mitochondrial ATPase 6 gene.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: November 06, 2018

Serial Magnetic Resonance Imaging and 1H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report.

Serial Magnetic Resonance Imaging and 1H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report.

Journal: JIMD reports

Published: November 21, 2017

Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.

Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.

Journal: Journal of human genetics

Published: August 28, 2017

Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C.

Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: May 25, 2016

Cyclosporine for acute encephalopathy with biphasic seizures and late reduced diffusion.

Cyclosporine for acute encephalopathy with biphasic seizures and late reduced diffusion.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: October 11, 2013

Showing 1-12 of 14

Last Updated: 09/26/2026