Catarina Quinzii

Catarina Quinzii

Columbia University New York - New York / United States
Natural Sciences / Biological Science
AD Scientific Index ID: 911931
person_outline Catarina Quinzii's MOST POPULAR ARTICLES
1-) Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutationsLC López, M Schuelke, CM Quinzii, T Kanki, RJT Rodenburg, A Naini, ...The American Journal of Human Genetics 79 (6), 1125-1129, 20064472006
2-) A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiencyC Quinzii, A Naini, L Salviati, E Trevisson, P Navas, S DiMauro, M HiranoThe American Journal of Human Genetics 78 (2), 345-349, 20063982006
3-) The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) geneK Gempel, H Topaloglu, B Talim, P Schneiderat, BGH Schoser, VH Hans, ...Brain 130 (8), 2037-2044, 20073642007
4-) ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiencyC Lagier-Tourenne, M Tazir, LC López, CM Quinzii, M Assoum, N Drouot, ...The American Journal of Human Genetics 82 (3), 661-672, 20083482008
5-) Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial diseaseC Kornblum, TJ Nicholls, TB Haack, S Schöler, V Peeva, K Danhauser, ...Nature genetics 45 (2), 214-219, 20132652013