Catarina M. Quinzii

Leigh Syndrome with Nephropathy and CoQ10 Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations

Luís C. López, Markus Schuelke, Catarina M. Quinzii et al. · The American Journal of Human Genetics · 2006 · 389 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +9

A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency

Catarina M. Quinzii, Ali Naini, Leonardo Salviati et al. · The American Journal of Human Genetics · 2006 · 343 citations · Full text

Biosynthesis, Biochemistry, Natural Sciences +3

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

Klaus Gempel, Haluk Topaloğlu, Beril Talim et al. · Brain · 2007 · 317 citations · Full text

Metabolic Disorder, Coenzyme Q10, Genetics +21

ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

Clotilde Lagier‐Tourenne, Mériem Tazir, Luís C. López et al. · The American Journal of Human Genetics · 2008 · 316 citations · Full text

Is Mutated, Mendelian Disorder, Genetic Disorder +7

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

Cornelia Kornblum, Thomas J. Nicholls, Tobias B. Haack et al. · Nature Genetics · 2013 · 227 citations · Full text

Mitochondrial Myopathy, Genome Instability, Mitochondrial Function +8