Associated Papers
Clinical and variant spectrum of patients harboring ATAD3A variants.
Mei H et al.
Translational Pediatrics, 2025
40800200 (PubMed )
Supplement: tp-14-07-1402-supplementary.pdf
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
Mutations in mitochondrial ATAD3 gene and disease, lessons from in vivo models.
Brügel M et al.
Frontiers in Neuroscience, 2024
ATAD3A: A Key Regulator of Mitochondria-Associated Diseases.
Chen L et al.
International Journal of Molecular Sciences, 2023
Ketogenic Diet Attenuates Refractory Epilepsy of Harel-Yoon Syndrome With ATAD3A Variants: A Case Report and Review of Literature.
Chen Y et al.
Pediatric Neurology, 2023
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.
Skopkova M et al.
Orphanet Journal of Rare Diseases, 2023
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
Yap ZY et al.
Genome Medicine, 2021
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Stals KL et al.
Prenatal Diagnosis, 2018
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