Clinico‐Genetic, Imaging and Molecular Delineation of <scp><i>COQ8A</i></scp>‐Ataxia: A Multicenter Study of 59 PatientsAndreas Traschütz, Matthis Synofzik, C.A. Bingman et al.|Annals of Neurology|2020Cited by 77
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson’s disease to perinatal lethality and disrupt mitochondrial functionFrancesca Magrinelli, Güneş Kızıltan, Christelle Tesson et al.|medRxiv|2024Cited by 6