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Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.
Salviati L, Trevisson E, Rodriguez Hernandez MA, Casarin A, Pertegato V, Doimo M, Cassina M, Agosto C, Desbats MA, Sartori G, Sacconi S, Memo L, Zuffardi O, Artuch R, Quinzii C, Dimauro S, Hirano M, Santos-Ocaña C, Navas P. Salviati L, et al. Among authors: hirano m. J Med Genet. 2012 Mar;49(3):187-91. doi: 10.1136/jmedgenet-2011-100394. J Med Genet. 2012. PMID: 22368301 Free PMC article.
Mitochondrial diseases.
Vu TH, Hirano M, DiMauro S. Vu TH, et al. Among authors: hirano m. Neurol Clin. 2002 Aug;20(3):809-39, vii-viii. doi: 10.1016/s0733-8619(01)00017-2. Neurol Clin. 2002. PMID: 12432831 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
Mitochondrial encephalomyopathies: an update.
DiMauro S, Hirano M. DiMauro S, et al. Among authors: hirano m. Neuromuscul Disord. 2005 Apr;15(4):276-86. doi: 10.1016/j.nmd.2004.12.008. Neuromuscul Disord. 2005. PMID: 15792866 Review.
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.
A polymorphic polymerase.
DiMauro S, Davidzon G, Hirano M. DiMauro S, et al. Among authors: hirano m. Brain. 2006 Jul;129(Pt 7):1637-9. doi: 10.1093/brain/awl169. Brain. 2006. PMID: 16803839 Review. No abstract available.
2,293 results