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
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
Ataxia due to a COQ8A Novel Variant in Primary Coenzyme Q10 Deficiency.
Chavira-Hernández G et al.
Movement Disorders Clinical Practice, 2023
Primary coenzyme Q10 deficiency due to COQ8A gene mutations.
Zhang L et al.
Molecular Genetics & Genomic Medicine, 2020
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
Select a paper to view details