Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Segmental brainstem myoclonus in ADCK3-Related ataxia: A novel phenomenon?
Colona VL et al.
Parkinsonism & Related Disorders, 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
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Development of a Mitochondrial Myopathy-Composite Assessment Tool.
Flickinger J et al.
Jcsm Clinical Reports, 2021
Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
Santos-Ocaña C et al.
International Journal of Molecular Sciences, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D 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
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Traschütz A et al.
Annals of Neurology, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 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
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Sun M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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
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
[Nonsense-mediated mRNA decay and human monogenic disease].
Guo WT et al.
Yi Chuan = Hereditas, 2012
The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.
Terracciano A et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2012
Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.
Horvath R et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2012
Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy.
Gerards M et al.
Mitochondrion, 2010