Associated Papers
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
Refractory Epilepsy in Adult Patient With COQ8A Variant Improves With CoQ10 Supplementation: A Case for Exome Sequencing in the ICU.
LoVoi J et al.
Neurology. Genetics, 2024
Primary CoQ10 deficiency with a severe phenotype due to the c.901 C > T (p.R301W) mutation in the COQ8A gene.
Değerliyurt A et al.
The International Journal of Neuroscience, 2024
Childhood-onset writer's cramp, with later ataxia: A clue to COQ8A-related disorders.
Stephen CD
Parkinsonism & Related Disorders, 2024
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing.
Guo F et al.
Human Mutation, 2024
Primary Coenzyme Q10 Deficiency: An Update.
Mantle D et al.
Antioxidants (basel, Switzerland), 2023
Neuroimaging in Primary Coenzyme-Q10-Deficiency Disorders.
Münch J et al.
Antioxidants (basel, Switzerland), 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
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 Q10 deficiency due to COQ8A gene mutations.
Zhang L et al.
Molecular Genetics & Genomic Medicine, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Traschütz A et al.
Annals of Neurology, 2020
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
One-year outcome of coenzyme Q10 supplementation in ADCK3 ataxia (ARCA2).
Schirinzi T et al.
Cerebellum & Ataxias, 2019
ADCK3-related Coenzyme Q10 Deficiency: A Potentially Treatable Genetic Disease.
Chang A et al.
Movement Disorders Clinical Practice, 0