Associated Papers
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Merkevicius K et al.
Brain : a Journal of Neurology, 2025
41239557 (PubMed )
Supplement: awaf430_supplementary_data.pdf
Exome Sequencing of Fetuses With Intracranial Hemorrhage Unravels Novel Causative Genes and an Extreme Genetic Heterogeneity.
Coste T et al.
Prenatal Diagnosis, 2025
39763161 (PubMed )
Supplement: supplement_1.docx
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
MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency.
Ah Mew N et al.
Pediatric Neurology, 2011
Select a paper to view details