Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Mitochondrial Complex IV Deficiency Nuclear Type 11 Caused by a Novel Start-Lost Variant in the COX20 Gene.
Kuchina A et al.
Genes, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genetic and Clinical Features of 10 Families With Hereditary Sensory Neuropathies.
Xu K et al.
Journal of the Peripheral Nervous System : Jpns, 2025
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Lam WKJ et al.
The Lancet Regional Health. Western Pacific, 2025
Prenatal Counseling and Diagnosis of COX20 Gene-Related Mitochondrial Complex IV Deficiency: A Case Report and Literature Review.
Su J et al.
International Journal of Women's Health, 2025
Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis.
Li XY et al.
European Journal of Neurology, 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
Dendritic Spine in Autism Genetics: Whole-Exome Sequencing Identifying De Novo Variant of CTTNBP2 in a Quad Family Affected by Autism Spectrum Disorder.
Xie Y et al.
Children (basel, Switzerland), 2022
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
Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.
Chakravorty S et al.
Scientific Reports, 2020
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
Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy.
Otero MG et al.
Annals of Clinical and Translational Neurology, 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