Associated Papers
Childhood-onset writer's cramp, with later ataxia: A clue to COQ8A-related disorders.
Stephen CD
Parkinsonism & Related Disorders, 2024
More than Just Bread and Wine: Using Yeast to Understand Inherited Cytochrome Oxidase Deficiencies in Humans.
Caron-Godon CA et al.
International Journal of Molecular Sciences, 2024
Clinical and genetic characteristics of children with COX20-associated mitochondrial disorder: case report and literature review.
Chen L et al.
Bmc Medical Genomics, 2023
The phenotypic spectrum of COX20-associated mitochondrial disorder.
Ban R et al.
Brain : a Journal of Neurology, 2022
Compound Heterozygous COX20 Variants Impair the Function of Mitochondrial Complex IV to Cause a Syndrome Involving Ophthalmoplegia and Visual Failure.
Li P et al.
Frontiers in Neurology, 2022
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy.
Dong HL et al.
Brain : a Journal of Neurology, 2021
Observation of novel COX20 mutations related to autosomal recessive axonal neuropathy and static encephalopathy.
Xu H et al.
Human Genetics, 2019
Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy.
Otero MG et al.
Annals of Clinical and Translational Neurology, 2019
The mitochondrial TMEM177 associates with COX20 during COX2 biogenesis.
Lorenzi I et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2018
Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase.
Bourens M et al.
Human Molecular Genetics, 2014
Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation.
Doss S et al.
Journal of Neurology, 2014
A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
Szklarczyk R et al.
Human Molecular Genetics, 2013
Dysarthria, Ataxia, and Dystonia Associated with COX20 (FAM36A) Gene Mutation: A Case Report of a Turkish Child.
Ozcanyuz DG et al.
Annals of Indian Academy of Neurology, 0
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