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Page 1
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: dimauro s. Ann Neurol. 2005 Jun;57(6):921-3. doi: 10.1002/ana.20498. Ann Neurol. 2005. PMID: 15929042
Mitochondrial DNA and disease.
Dimauro S, Davidzon G. Dimauro S, et al. Ann Med. 2005;37(3):222-32. doi: 10.1080/07853890510007368. Ann Med. 2005. PMID: 16019721 Review.
Early-onset familial parkinsonism due to POLG mutations.
Davidzon G, Greene P, Mancuso M, Klos KJ, Ahlskog JE, Hirano M, DiMauro S. Davidzon G, et al. Among authors: dimauro s. Ann Neurol. 2006 May;59(5):859-62. doi: 10.1002/ana.20831. Ann Neurol. 2006. PMID: 16634032
A polymorphic polymerase.
DiMauro S, Davidzon G, Hirano M. DiMauro S, et al. Brain. 2006 Jul;129(Pt 7):1637-9. doi: 10.1093/brain/awl169. Brain. 2006. PMID: 16803839 Review. No abstract available.
Juvenile Alpers disease.
Wiltshire E, Davidzon G, DiMauro S, Akman HO, Sadleir L, Haas L, Zuccollo J, McEwen A, Thorburn DR. Wiltshire E, et al. Among authors: dimauro s. Arch Neurol. 2008 Jan;65(1):121-4. doi: 10.1001/archneurol.2007.14. Arch Neurol. 2008. PMID: 18195149
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
Kurt B, Jaeken J, Van Hove J, Lagae L, Löfgren A, Everman DB, Jayakar P, Naini A, Wierenga KJ, Van Goethem G, Copeland WC, DiMauro S. Kurt B, et al. Among authors: dimauro s. Arch Neurol. 2010 Feb;67(2):239-44. doi: 10.1001/archneurol.2009.332. Arch Neurol. 2010. PMID: 20142534 Free PMC article.
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombès A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmüller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R. Neeve VC, et al. Among authors: dimauro s. Brain. 2012 Dec;135(Pt 12):3614-26. doi: 10.1093/brain/aws298. Brain. 2012. PMID: 23250882 Free PMC article.
Mitochondrial diseases.
Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, Suomalainen A, Thorburn DR, Zeviani M, Turnbull DM. Gorman GS, et al. Among authors: dimauro s. Nat Rev Dis Primers. 2016 Oct 20;2:16080. doi: 10.1038/nrdp.2016.80. Nat Rev Dis Primers. 2016. PMID: 27775730 Review.
734 results