Associated Papers
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
Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
Santos-Ocaña C et al.
International Journal of Molecular Sciences, 2021
A characteristic occipital epileptiform EEG pattern in ADCK3-related mitochondrial disease.
Arntsen V et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 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
Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature.
Shalata A et al.
Neurochemical Research, 2019
ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?
Hikmat O et al.
European Journal of Neurology, 2016
Mitochondrial DNA homeostasis is essential for nigrostriatal integrity.
Tzoulis C et al.
Mitochondrion, 2016
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