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
Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.
Zheng Y et al.
Brain : a Journal of Neurology, 2025
39423307 (PubMed )
Supplement: awae324_supplementary_data.zip › brain-2024-01629-File014.pdf
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
ATAD3A variants manifest multisystematically in the brain, nerves, eyes, heart, liver, and skin.
Finsterer J et al.
Molecular Genetics and Metabolism Reports, 2020
Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities.
Peralta S et al.
Molecular Genetics and Metabolism, 2019
Mitochondrial dysfunction caused by novel ATAD3A mutations.
Dorison N et al.
Molecular Genetics and Metabolism, 0
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