Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation
Quinzii, C M, Kattah, A G, Naini, A, Akman, H O, Mootha, V K, DiMauro, S, Hirano, M
Published in Neurology (08.02.2005)
Published in Neurology (08.02.2005)
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Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3
Barca, E., Musumeci, O., Montagnese, F., Marino, S., Granata, F., Nunnari, D., Peverelli, L., DiMauro, S., Quinzii, C.M., Toscano, A.
Published in Clinical genetics (01.08.2016)
Published in Clinical genetics (01.08.2016)
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Journal Article
Human CoQ10 deficiencies
Quinzii, C. M., López, L. C., Naini, A., DiMauro, S., Hirano, M.
Published in BioFactors (Oxford) (2008)
Published in BioFactors (Oxford) (2008)
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Journal Article
Genetics of Primary CoQ10 Deficiency
Naini, A., Quinzii, C., Navas, P., DiMauro, S., Hirano, M.
Published in Current genomics (01.09.2006)
Published in Current genomics (01.09.2006)
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Journal Article
Cerebellar ataxia and severe muscle CoQ sub(10) deficiency in a patient with a novel mutation in ADCK3
Barca, E, Musumeci, O, Montagnese, F, Marino, S, Granata, F, Nunnari, D, Peverelli, L, DiMauro, S, Quinzii, C M, Toscano, A
Published in Clinical genetics (01.08.2016)
Published in Clinical genetics (01.08.2016)
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Journal Article
X-Linked Dominant Scapuloperoneal Myopathy Is Due to a Mutation in the Gene Encoding Four-and-a-Half-LIM Protein 1
Quinzii, Catarina M., Vu, Tuan H., Min, K. Christopher, Tanji, Kurenai, Barral, Sandra, Grewal, Raji P., Kattah, Andrea, Camaño, Pilir, Otaegui, David, Kunimatsu, Teruhito, Blake, David M., Wilhelmsen, Kirk C., Rowland, Lewis P., Hays, Arthur P., Bonilla, Eduardo, Hirano, Michio
Published in American journal of human genetics (01.01.2008)
Published in American journal of human genetics (01.01.2008)
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Journal Article
CoQ10 supplementation rescues nephrotic syndrome through normalization of H2S oxidation pathway
Kleiner, Giulio, Barca, Emanuele, Ziosi, Marcello, Emmanuele, Valentina, Xu, Yimeng, Hidalgo-Gutierrez, Agustin, Qiao, Changhong, Tadesse, Saba, Area-Gomez, Estela, Lopez, Luis C., Quinzii, Catarina M.
Published in Biochimica et biophysica acta. Molecular basis of disease (01.11.2018)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.11.2018)
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Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects
López, Luis C, Quinzii, Catarina M, Area, Estela, Naini, Ali, Rahman, Shamima, Schuelke, Markus, Salviati, Leonardo, Dimauro, Salvatore, Hirano, Michio
Published in PloS one (30.07.2010)
Published in PloS one (30.07.2010)
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Journal Article
Human CoQ 10 deficiencies
Quinzii, C. M., López, L. C., Naini, A., DiMauro, S., Hirano, M.
Published in BioFactors (Oxford) (01.01.2008)
Published in BioFactors (Oxford) (01.01.2008)
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Journal Article
Human CoQ sub(10) deficiencies
Quinzii, C M, Lopez, L C, Naini, A, DiMauro, S, Hirano, M
Published in BioFactors (Oxford) (01.01.2008)
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Published in BioFactors (Oxford) (01.01.2008)
Journal Article
Leigh Syndrome with Nephropathy and CoQ sub(10) Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations
Lopez, L C, Schuelke, M, Quinzii, C M, Kanki, T, Rodenburg, RJT, Naini, A, DiMauro, S, Hirano, M
Published in American journal of human genetics (01.12.2006)
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Published in American journal of human genetics (01.12.2006)
Journal Article
Heterogeneity of Coenzyme Q10 Deficiency: Patient Study and Literature Review
Emmanuele, Valentina, López, Luis C, Berardo, Andres, Naini, Ali, Tadesse, Saba, Wen, Bing, D’Agostino, Erin, Solomon, Martha, DiMauro, Salvatore, Quinzii, Catarina, Hirano, Michio
Published in Archives of neurology (Chicago) (01.08.2012)
Published in Archives of neurology (Chicago) (01.08.2012)
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