Associated Papers
Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.
Huang C et al.
Annals of Medicine, 2025
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
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
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
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 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
Ataxia due to a COQ8A Novel Variant in Primary Coenzyme Q10 Deficiency.
Chavira-Hernández G et al.
Movement Disorders Clinical Practice, 2023
Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias.
Cheng HL et al.
Translational Neurodegeneration, 2021
Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
Santos-Ocaña C et al.
International Journal of Molecular Sciences, 2021
Homozygosity mapping and next generation sequencing for the genetic diagnosis of hereditary ataxia and spastic paraplegia in consanguineous families.
Jiao B et al.
Parkinsonism & Related Disorders, 2020
Primary coenzyme Q10 deficiency due to COQ8A gene mutations.
Zhang L et al.
Molecular Genetics & Genomic Medicine, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature.
Shalata A et al.
Neurochemical Research, 2019
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
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