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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: hirano m. 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 coenzyme Q10 deficiency.
Quinzii CM, DiMauro S, Hirano M. Quinzii CM, et al. Among authors: hirano m. 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.
Primary coenzyme Q10 deficiency and the brain.
Naini A, Lewis VJ, Hirano M, DiMauro S. Naini A, et al. Among authors: hirano m. Biofactors. 2003;18(1-4):145-52. doi: 10.1002/biof.5520180217. Biofactors. 2003. PMID: 14695930
Restoring balance to ataxia with coenzyme Q10 deficiency.
Hirano M, Quinzii CM, Dimauro S. Hirano M, et al. J Neurol Sci. 2006 Jul 15;246(1-2):11-2. doi: 10.1016/j.jns.2006.03.017. Epub 2006 May 5. J Neurol Sci. 2006. PMID: 16678207 No abstract available.
Mutations in coenzyme Q10 biosynthetic genes.
DiMauro S, Quinzii CM, Hirano M. DiMauro S, et al. Among authors: hirano m. 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. Among authors: hirano m. 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.
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.
Duncan AJ, Bitner-Glindzicz M, Meunier B, Costello H, Hargreaves IP, López LC, Hirano M, Quinzii CM, Sadowski MI, Hardy J, Singleton A, Clayton PT, Rahman S. Duncan AJ, et al. Among authors: hirano m. Am J Hum Genet. 2009 May;84(5):558-66. doi: 10.1016/j.ajhg.2009.03.018. Epub 2009 Apr 16. Am J Hum Genet. 2009. PMID: 19375058 Free PMC article.
Coenzyme Q and mitochondrial disease.
Quinzii CM, Hirano M. Quinzii CM, et al. Among authors: hirano m. Dev Disabil Res Rev. 2010;16(2):183-8. doi: 10.1002/ddrr.108. Dev Disabil Res Rev. 2010. PMID: 20818733 Free PMC article. Review.
2,262 results