Catarina Quinzii

Neurology Columbia University, New York, NY 
"Catarina Quinzii"
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González-García P, Hidalgo-Gutiérrez A, Mascaraque C, et al. (2020) Coenzyme Q10 modulates sulfide metabolism and links the mitochondrial respiratory chain to pathways associated to one carbon metabolism. Human Molecular Genetics
Kleiner G, Barca E, Ziosi M, et al. (2018) CoQ supplementation rescues nephrotic syndrome through normalization of HS oxidation pathway. Biochimica Et Biophysica Acta. Molecular Basis of Disease. 1864: 3708-3722
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
Quinzii CM, Luna-Sanchez M, Ziosi M, et al. (2017) The Role of Sulfide Oxidation Impairment in the Pathogenesis of Primary CoQ Deficiency. Frontiers in Physiology. 8: 525
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
Ziosi M, Di Meo I, Kleiner G, et al. (2016) Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway. Embo Molecular Medicine
Barca E, Kleiner G, Tang G, et al. (2016) Decreased Coenzyme Q10 Levels in Multiple System Atrophy Cerebellum. Journal of Neuropathology and Experimental Neurology
Emmanuele V, Kubota A, Garcia-Diaz B, et al. (2015) Fhl1 W122S causes loss of protein function and late-onset mild myopathy. Human Molecular Genetics. 24: 714-26
Balreira A, Boczonadi V, Barca E, et al. (2014) ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency. Journal of Neurology. 261: 2192-8
Goldman JS, Quinzii C, Dunning-Broadbent J, et al. (2014) Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72. Jama Neurology. 71: 771-4
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