Associated Papers
Shaky Beginnings: A Novel CoQ8A Mutation in Adolescent-Onset Cerebellar Ataxia with Head Tremors.
Subramanian VK et al.
Annals of Indian Academy of Neurology, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.
Repiská G et al.
Genes, 2025
The Complex Etiology of Epilepsy: Genetic Analysis and HLA Association in Patients in the Middle East.
Fadda A et al.
International Journal of Molecular Sciences, 2025
Profiles of paediatric patients experiencing stroke-like episodes associated with mitochondrial disease.
Molla GK et al.
Frontiers in Neurology, 2025
Mitochondrial Dysfunction due to Novel COQ8A Variation with Poor Response to CoQ10 Treatment: A Comprehensive Study and Review of Literatures.
Wang J et al.
Cerebellum (london, England), 2024
Childhood-onset writer's cramp, with later ataxia: A clue to COQ8A-related disorders.
Stephen CD
Parkinsonism & Related Disorders, 2024
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature.
Hojabri M et al.
Clinical Medicine Insights. Case Reports, 2023
Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
Santos-Ocaña C et al.
International Journal of Molecular Sciences, 2021
Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review.
Uccella S et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Traschütz A et al.
Annals of Neurology, 2020
Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature.
Shalata A et al.
Neurochemical Research, 2019
Exome sequencing found a novel homozygous deletion in ADCK3 gene involved in autosomal recessive spinocerebellar ataxia.
Hajjari M et al.
Gene, 2019
Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.
Hughes BG et al.
Scientific Reports, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?
Hikmat O et al.
European Journal of Neurology, 2016
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.
Mallaret M et al.
Journal of Neurology, 2016
Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis.
Stefely JA et al.
Molecular Cell, 2015
Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.
Liu J et al.
Nature Communications, 2014
Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation.
Liu YT et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2014
The molecular genetics of coenzyme Q biosynthesis in health and disease.
Laredj LN et al.
Biochimie, 2014
Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.
Horvath R et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2012