Associated Papers
Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.
Kim SH et al.
Journal of Korean Medical Science, 2025
40390582 (PubMed )
Supplement: jkms-40-e68-s003.xls › jkms-40-e68-s003
Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.
Higuchi Y et al.
Journal of Neurology, 2024
Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report.
Ouchi S et al.
Bmc Neurology, 2023
Mitochondrial COA7 is a heme-binding protein with disulfide reductase activity, which acts in the early stages of complex IV assembly.
Formosa LE et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
Biallelic COA7-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese Patient.
Ban R et al.
Frontiers in Genetics, 2021
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
Higuchi Y et al.
Brain : a Journal of Neurology, 2018
A novel compound heterozygous mutation in the COA7 gene responsible for a Chinese patient with spinocerebellar ataxia with axonal neuropathy type 3.
Tang Y et al.
Clinical Neuropathology, 0
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