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
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
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
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
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