Mizue Iai

Yokohama, Japan

Last Updated: 09/26/2026

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Found 35 publications

Clinical characteristics and radiological features of tubulinopathy: A single-center retrospective study in Japan.

Clinical characteristics and radiological features of tubulinopathy: A single-center retrospective study in Japan.

Journal: Brain & development

Published: August 09, 2024

Successful treatment with teduglutide for an adolescent with cerebral palsy accompanied by short bowel syndrome.

Successful treatment with teduglutide for an adolescent with cerebral palsy accompanied by short bowel syndrome.

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

Published: February 16, 2024

Atypical clinical course in two patients with GNB1 variants who developed acute encephalopathy.

Atypical clinical course in two patients with GNB1 variants who developed acute encephalopathy.

Journal: Brain & development

Published: March 17, 2023

Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.

Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 10, 2022

Elevation of brain gamma-aminobutyric acid levels is associated with vigabatrin-associated brain abnormalities on magnetic resonance imaging.

Elevation of brain gamma-aminobutyric acid levels is associated with vigabatrin-associated brain abnormalities on magnetic resonance imaging.

Journal: Epilepsy research

Published: November 20, 2021

De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality.

De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality.

Journal: Human molecular genetics

Published: June 01, 2021

Endoscopic lithotripsy for upper urinary tract stones in disabled adolescents.

Endoscopic lithotripsy for upper urinary tract stones in disabled adolescents.

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

Published: January 25, 2021

Infection-associated decrease of serum creatine kinase levels in Fukuyama congenital muscular dystrophy.

Infection-associated decrease of serum creatine kinase levels in Fukuyama congenital muscular dystrophy.

Journal: Brain & development

Published: September 14, 2020

Recurrent pulmonary hemorrhage in juvenile patients with KCNT1 mutation.

Recurrent pulmonary hemorrhage in juvenile patients with KCNT1 mutation.

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

Published: June 08, 2020

Autopsy Report of a Woman with Infantile Alexander Disease Who Survived 39 Years.

Autopsy Report of a Woman with Infantile Alexander Disease Who Survived 39 Years.

Journal: Neuropediatrics

Published: March 07, 2020

De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies.

De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies.

Journal: Journal of the neurological sciences

Published: March 04, 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

Showing 1-12 of 35

Last Updated: 09/26/2026