Associated Papers
ATP5F1A deficiency causes developmental delay and motor dysfunction in humans and zebrafish.
Xian C et al.
Journal of Translational Medicine, 2025
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Fielder SM et al.
Embo Molecular Medicine, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Fielder SM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase.
Harrer P et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
40276935 (PubMed )
Supplement: MDS-40-1388-s001.pdf
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