Associated Papers
Genetic and Clinical Features of 10 Families With Hereditary Sensory Neuropathies.
Xu K et al.
Journal of the Peripheral Nervous System : Jpns, 2025
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
Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.
Mukherjee S et al.
Mitochondrion, 2020
Observation of novel COX20 mutations related to autosomal recessive axonal neuropathy and static encephalopathy.
Xu H et al.
Human Genetics, 2019
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
Select a paper to view details