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
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
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
A holistic approach to maximise diagnostic output in trio exome sequencing.
von Hardenberg S et al.
Frontiers in Pediatrics, 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
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
ATAD3 controls mitochondrial cristae structure in mouse muscle, influencing mtDNA replication and cholesterol levels.
Peralta S et al.
Journal of Cell Science, 2018
Reply: Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance.
Frazier AE et al.
Brain : a Journal of Neurology, 2017
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
Harel T et al.
American Journal of Human Genetics, 2016
Mitochondrial dysfunction caused by novel ATAD3A mutations.
Dorison N et al.
Molecular Genetics and Metabolism, 0
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