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
ATAD3A: A Key Regulator of Mitochondria-Associated Diseases.
Chen L et al.
International Journal of Molecular Sciences, 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
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
Reply: Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance.
Frazier AE et al.
Brain : a Journal of Neurology, 2017
Mitochondrial dysfunction caused by novel ATAD3A mutations.
Dorison N et al.
Molecular Genetics and Metabolism, 0
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