Concepedia

Catarina M. Quinzii

CM

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Publications

59

Citations

5.7K

H-Index

44

Active since

2005

Affiliations

Columbia University Irving Medical Center(Current)

Columbia University

Universität Ulm

University of Padua

Universidad de Granada

Catarina M. Quinzii is an author at Columbia University Irving Medical Center specializing in life sciences, genetics, and coenzyme q10 deficiency.

ORCID

Publications per year

2005–2024

59

Publications

59

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 · 394 citations · Full text

, , +10

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 · 347 citations · Full text

, , +6

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 · 323 citations · Full text

, , +11

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 · 319 citations · Full text

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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 · 235 citations · Full text

, , +15

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