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
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
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Jin SC et al.
Nature Genetics, 2020
32989326 (PubMed )
Supplement: 41588_2020_695_MOESM3_ESM.xlsx › Data_set_1
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