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Human coenzyme Q10 deficiency.
Quinzii CM, DiMauro S, Hirano M. Quinzii CM, et al. Neurochem Res. 2007 Apr-May;32(4-5):723-7. doi: 10.1007/s11064-006-9190-z. Epub 2006 Nov 10. Neurochem Res. 2007. PMID: 17094036 Free PMC article. Review.
Mutations in coenzyme Q10 biosynthetic genes.
DiMauro S, Quinzii CM, Hirano M. DiMauro S, et al. Among authors: quinzii cm. J Clin Invest. 2007 Mar;117(3):587-9. doi: 10.1172/JCI31423. J Clin Invest. 2007. PMID: 17332886 Free PMC article.
CoQ10 deficiency diseases in adults.
Quinzii CM, Hirano M, DiMauro S. Quinzii CM, et al. Mitochondrion. 2007 Jun;7 Suppl(Suppl):S122-6. doi: 10.1016/j.mito.2007.03.004. Epub 2007 Mar 27. Mitochondrion. 2007. PMID: 17485248 Free PMC article. Review.
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.
Lagier-Tourenne C, Tazir M, López LC, Quinzii CM, Assoum M, Drouot N, Busso C, Makri S, Ali-Pacha L, Benhassine T, Anheim M, Lynch DR, Thibault C, Plewniak F, Bianchetti L, Tranchant C, Poch O, DiMauro S, Mandel JL, Barros MH, Hirano M, Koenig M. Lagier-Tourenne C, et al. Among authors: quinzii cm. Am J Hum Genet. 2008 Mar;82(3):661-72. doi: 10.1016/j.ajhg.2007.12.024. Am J Hum Genet. 2008. PMID: 18319074 Free PMC article.
Human CoQ10 deficiencies.
Quinzii CM, López LC, Naini A, DiMauro S, Hirano M. Quinzii CM, et al. Biofactors. 2008;32(1-4):113-8. doi: 10.1002/biof.5520320113. Biofactors. 2008. PMID: 19096106 Free PMC article.
85 results