Associated Papers
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance.
Wang Y et al.
The British Journal of Ophthalmology, 2023
Protein Transduction Domain-Mediated Delivery of Recombinant Proteins and In Vitro Transcribed mRNAs for Protein Replacement Therapy of Human Severe Genetic Mitochondrial Disorders: The Case of Sco2 Deficiency.
Miliotou AN et al.
Pharmaceutics, 2023
Adult Cerebellar Ataxia, Axonal Neuropathy, and Sensory Impairments Caused by Biallelic SCO2 Variants.
Rucheton B et al.
Neurology. Genetics, 2021
Recent Advances in Modeling Mitochondrial Cardiomyopathy Using Human Induced Pluripotent Stem Cells.
Pavez-Giani MG et al.
Frontiers in Cell and Developmental Biology, 2021
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.
Ogawa E et al.
Journal of Inherited Metabolic Disease, 2020
The Emergence of Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes (hiPSC-CMs) as a Platform to Model Arrhythmogenic Diseases.
Pourrier M et al.
International Journal of Molecular Sciences, 2020
Investigating the cardiac pathology of SCO2-mediated hypertrophic cardiomyopathy using patients induced pluripotent stem cell-derived cardiomyocytes.
Hallas T et al.
Journal of Cellular and Molecular Medicine, 2018
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.
Ogawa E et al.
Journal of Inherited Metabolic Disease, 2017
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
Kohda M et al.
Plos Genetics, 2016
Analysis of reported SCO2 gene mutations affecting cytochrome c oxidase activity in various diseases.
Chadha R et al.
Bioinformation, 2014
Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia.
Sambuughin N et al.
Journal of Human Genetics, 2013
Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review.
Gurgel-Giannetti J et al.
Jama Neurology, 2013
End-stage cardiac disease as an initial presentation of systemic myopathies: case series and literature review.
Katzberg H et al.
Journal of Child Neurology, 2010
A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy.
Mobley BC et al.
Clinical Neuropathology, 0