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Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.
Galosi S, Barca E, Carrozzo R, Schirinzi T, Quinzii CM, Lieto M, Vasco G, Zanni G, Di Nottia M, Galatolo D, Filla A, Bertini E, Santorelli FM, Leuzzi V, Haas R, Hirano M, Friedman J. Galosi S, et al. Among authors: hirano m. Parkinsonism Relat Disord. 2019 Nov;68:8-16. doi: 10.1016/j.parkreldis.2019.09.015. Epub 2019 Sep 28. Parkinsonism Relat Disord. 2019. PMID: 31621627 Review.
POLG mutations and Alpers syndrome.
Davidzon G, Mancuso M, Ferraris S, Quinzii C, Hirano M, Peters HL, Kirby D, Thorburn DR, DiMauro S. Davidzon G, et al. Among authors: hirano m. Ann Neurol. 2005 Jun;57(6):921-3. doi: 10.1002/ana.20498. Ann Neurol. 2005. PMID: 15929042
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.
Navajo neurohepatopathy is caused by a mutation in the MPV17 gene.
Karadimas CL, Vu TH, Holve SA, Chronopoulou P, Quinzii C, Johnsen SD, Kurth J, Eggers E, Palenzuela L, Tanji K, Bonilla E, De Vivo DC, DiMauro S, Hirano M. Karadimas CL, et al. Among authors: hirano m. Am J Hum Genet. 2006 Sep;79(3):544-8. doi: 10.1086/506913. Epub 2006 Jun 28. Am J Hum Genet. 2006. PMID: 16909392 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.
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.
2,262 results