Leigh Syndrome with Nephropathy and CoQ10 Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) MutationsLuís C. López, Michio Hirano, Markus Schuelke et al.|The American Journal of Human Genetics|2006Cited by 393
A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 DeficiencyCatarina M. Quinzii, Michio Hirano, Leonardo Salviati et al.|The American Journal of Human Genetics|2006Cited by 346
ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 DeficiencyClotilde Lagier‐Tourenne, Michel Kœnig, Mériem Tazir et al.|The American Journal of Human Genetics|2008Cited by 323
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) geneKlaus Gempel, Rita Horváth, Haluk Topaloğlu et al.|Brain|2007Cited by 319