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
Transcriptome analysis of atad3-null zebrafish embryos elucidates possible disease mechanisms.
Ezer S et al.
Orphanet Journal of Rare Diseases, 2025
Identification of genetic causes in children with unexplained epilepsy based on trio-whole exome sequencing.
Chengyan L et al.
Clinical Genetics, 2024
Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation.
Muñoz-Oreja M et al.
Brain : a Journal of Neurology, 2024
ATAD3A: A Key Regulator of Mitochondria-Associated Diseases.
Chen L et al.
International Journal of Molecular Sciences, 2023
Harel Yoon syndrome: a novel mutation in ATAD3A gene and expansion of the clinical spectrum.
Tawfik CA et al.
Ophthalmic Genetics, 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
Ketogenic diet attenuates cerebellar atrophy progression in a subject with a biallelic variant at the ATAD3A locus.
Al Madhoun A et al.
The Application of Clinical Genetics, 2019
Ketogenic diet attenuates cerebellar atrophy progression in a subject with a biallelic variant at the ATAD3A locus [Response to Letter].
Al Madhoun A et al.
The Application of Clinical Genetics, 2019
Mitochondrial dysfunction caused by novel ATAD3A mutations.
Dorison N et al.
Molecular Genetics and Metabolism, 0
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