Associated Papers
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Fielder SM et al.
Embo Molecular Medicine, 2025
40859057 (PubMed )
Supplement: 44321_2025_290_MOESM10_ESM.pdf
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
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 of the Electron Transport Chain Affect Lifespan and ROS Levels in C. elegans.
Ősz F et al.
Antioxidants (basel, Switzerland), 2025
Variants in ATP5F1B are associated with dominantly inherited dystonia.
Nasca A et al.
Brain : a Journal of Neurology, 2023
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