Associated Papers
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort.
Beijer D et al.
Ebiomedicine, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 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
Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half.
Bar O et al.
International Journal of Molecular Sciences, 2024
Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
Santos-Ocaña C et al.
International Journal of Molecular Sciences, 2021
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
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair.
Jacobsen JC et al.
Jimd Reports, 2018
Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.
Hughes BG et al.
Scientific Reports, 2017
ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?
Hikmat O et al.
European Journal of Neurology, 2016
AarF Domain Containing Kinase 3 (ADCK3) Mutant Cells Display Signs of Oxidative Stress, Defects in Mitochondrial Homeostasis and Lysosomal Accumulation.
Cullen JK et al.
Plos One, 2016
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
Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability.
Blumkin L et al.
Jimd Reports, 2014
Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.
Horvath R et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2012
Effects of inhibiting CoQ10 biosynthesis with 4-nitrobenzoate in human fibroblasts.
Quinzii CM et al.
Plos One, 2012
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.
Quinzii CM et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2010
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.
Lagier-Tourenne C et al.
American Journal of Human Genetics, 2008
ADCK3-related Coenzyme Q10 Deficiency: A Potentially Treatable Genetic Disease.
Chang A et al.
Movement Disorders Clinical Practice, 0