[HTML][HTML] PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways

F Magrinelli, C Tesson, PR Angelova… - medRxiv, 2024 - pmc.ncbi.nlm.nih.gov
Dissecting biological pathways highlighted by Mendelian gene discovery has provided
critical insights into the pathogenesis of Parkinson's disease (PD) and neurodegeneration …