Hiroko Harashima

Saitama, Japan

Last Updated: 09/26/2026

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Found 13 publications

Cardiac dysfunction due to mitochondrial impairment assessed by human iPS cells caused by DNM1L mutations.

Cardiac dysfunction due to mitochondrial impairment assessed by human iPS cells caused by DNM1L mutations.

Journal: Pediatric research

Published: August 08, 2024

Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family.

Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family.

Journal: Molecular genetics and metabolism reports

Published: May 26, 2022

Author Correction: Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.

Author Correction: Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.

Journal: Scientific reports

Published: November 17, 2021

Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients.

Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients.

Journal: International journal of cardiology

Published: February 03, 2021

Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.

Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.

Journal: Scientific reports

Published: November 06, 2020

Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome.

Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome.

Journal: Neurogenetics

Published: October 26, 2018

Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background.

Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background.

Journal: International journal of cardiology

Published: July 10, 2018

Barth Syndrome: Different Approaches to Diagnosis.

Barth Syndrome: Different Approaches to Diagnosis.

Journal: The Journal of pediatrics

Published: April 27, 2017

Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein.

Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein.

Journal: International journal of cardiology

Published: November 23, 2015

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

Journal: PLoS genetics

Published: August 07, 2015

New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders.

New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders.

Journal: Annals of clinical and translational neurology

Published: December 11, 2013

Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: focusing on mitochondrial DNA depletion syndrome.

Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: focusing on mitochondrial DNA depletion syndrome.

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

Published: July 11, 2013

Showing 1-12 of 13

Last Updated: 09/26/2026