Catarina Quinzii
Affiliations: | Neurology | Columbia University, New York, NY |
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"Catarina Quinzii"
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| Berardo A, Quinzii CM. (2020) Redefining infantile-onset multisystem phenotypes of coenzyme Q-deficiency in the next-generation sequencing era. Journal of Translational Genetics and Genomics. 4: 22-35 |
| Griffiths KK, Wang A, Wang L, et al. (2020) Inefficient thermogenic mitochondrial respiration due to futile proton leak in a mouse model of fragile X syndrome. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology |
| Galosi S, Barca E, Carrozzo R, et al. (2019) Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review. Parkinsonism & Related Disorders. 68: 8-16 |
| Yu MH, Tsang MH, Lai S, et al. (2019) Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese. Npj Genomic Medicine. 4: 18 |
| Monzio Compagnoni G, Kleiner G, Bordoni A, et al. (2018) Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy. Biochimica Et Biophysica Acta. Molecular Basis of Disease. 1864: 3588-3597 |
| Arita JH, Barros MH, Ravagnani FG, et al. (2018) Metabolic studies of a patient harbouring a novel S487L mutation in the catalytic subunit of AMPK. Biochimica Et Biophysica Acta. Molecular Basis of Disease. 1864: 1896-1903 |
| Sondheimer N, Hewson S, Cameron JM, et al. (2017) Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ deficiency. Molecular Genetics and Metabolism Reports. 12: 23-27 |
| Garcia-Diaz B, Barca E, Balreira A, et al. (2015) Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway. Human Molecular Genetics. 24: 4516-29 |
| Luna-Sánchez M, Díaz-Casado E, Barca E, et al. (2015) The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene. Embo Molecular Medicine. 7: 670-87 |
| Balreira A, Boczonadi V, Barca E, et al. (2014) ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency. Journal of Neurology. 261: 2192-8 |