Associated Papers
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Merkevicius K et al.
Brain : a Journal of Neurology, 2025
Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis.
Moutaoufik MT et al.
Iscience, 2019
31536960 (PubMed )
Supplement: mmc5.xlsx › PTM-Phosphosites
Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.
Qin L et al.
The Journal of Molecular Diagnostics : Jmd, 2016
Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.
Deeb KK et al.
Molecular Genetics and Metabolism Reports, 2014
Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency.
Coughlin CR et al.
Molecular Genetics and Metabolism, 2010
Select a paper to view details