DiMauro S - Search Results

1

Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency.

Quinzii CM, López LC, Von-Moltke J, Naini A, Krishna S, Schuelke M, Salviati L, Navas P, DiMauro S, Hirano M. Quinzii CM, et al. Among authors: dimauro s. FASEB J. 2008 Jun;22(6):1874-85. doi: 10.1096/fj.07-100149. Epub 2008 Jan 29. FASEB J. 2008. PMID: 18230681 Free PMC article.

2

A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency.

Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, Dimauro S, Hirano M. Quinzii C, et al. Among authors: dimauro s. Am J Hum Genet. 2006 Feb;78(2):345-9. doi: 10.1086/500092. Epub 2005 Dec 22. Am J Hum Genet. 2006. PMID: 16400613 Free PMC article.

3

Human coenzyme Q10 deficiency.

Quinzii CM, DiMauro S, Hirano M. Quinzii CM, et al. Among authors: dimauro s. 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.

4

Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations.

López LC, Schuelke M, Quinzii CM, Kanki T, Rodenburg RJ, Naini A, Dimauro S, Hirano M. López LC, et al. Among authors: dimauro s. Am J Hum Genet. 2006 Dec;79(6):1125-9. doi: 10.1086/510023. Epub 2006 Oct 27. Am J Hum Genet. 2006. PMID: 17186472 Free PMC article.

5

Mutations in coenzyme Q10 biosynthetic genes.

DiMauro S, Quinzii CM, Hirano M. DiMauro S, et al. J Clin Invest. 2007 Mar;117(3):587-9. doi: 10.1172/JCI31423. J Clin Invest. 2007. PMID: 17332886 Free PMC article.

6

CoQ10 deficiency diseases in adults.

Quinzii CM, Hirano M, DiMauro S. Quinzii CM, et al. Among authors: dimauro s. 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.

7

Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.

Quinzii CM, López LC, Gilkerson RW, Dorado B, Coku J, Naini AB, Lagier-Tourenne C, Schuelke M, Salviati L, Carrozzo R, Santorelli F, Rahman S, Tazir M, Koenig M, DiMauro S, Hirano M. Quinzii CM, et al. Among authors: dimauro s. FASEB J. 2010 Oct;24(10):3733-43. doi: 10.1096/fj.09-152728. Epub 2010 May 21. FASEB J. 2010. PMID: 20495179 Free PMC article.

8

Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects.

López LC, Quinzii CM, Area E, Naini A, Rahman S, Schuelke M, Salviati L, Dimauro S, Hirano M. López LC, et al. Among authors: dimauro s. PLoS One. 2010 Jul 30;5(7):e11897. doi: 10.1371/journal.pone.0011897. PLoS One. 2010. PMID: 20689595 Free PMC article.

9

Human CoQ10 deficiencies.

Quinzii CM, López LC, Naini A, DiMauro S, Hirano M. Quinzii CM, et al. Among authors: dimauro s. Biofactors. 2008;32(1-4):113-8. doi: 10.1002/biof.5520320113. Biofactors. 2008. PMID: 19096106 Free PMC article.

10

Heterogeneity of coenzyme Q10 deficiency: patient study and literature review.

Emmanuele V, López LC, Berardo A, Naini A, Tadesse S, Wen B, D'Agostino E, Solomon M, DiMauro S, Quinzii C, Hirano M. Emmanuele V, et al. Among authors: dimauro s. Arch Neurol. 2012 Aug;69(8):978-83. doi: 10.1001/archneurol.2012.206. Arch Neurol. 2012. PMID: 22490322 Free PMC article. Review.

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