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Page 1
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.
Giordano C, Iommarini L, Giordano L, Maresca A, Pisano A, Valentino ML, Caporali L, Liguori R, Deceglie S, Roberti M, Fanelli F, Fracasso F, Ross-Cisneros FN, D'Adamo P, Hudson G, Pyle A, Yu-Wai-Man P, Chinnery PF, Zeviani M, Salomao SR, Berezovsky A, Belfort R Jr, Ventura DF, Moraes M, Moraes Filho M, Barboni P, Sadun F, De Negri A, Sadun AA, Tancredi A, Mancini M, d'Amati G, Loguercio Polosa P, Cantatore P, Carelli V. Giordano C, et al. Brain. 2014 Feb;137(Pt 2):335-53. doi: 10.1093/brain/awt343. Epub 2013 Dec 24. Brain. 2014. PMID: 24369379 Free PMC article.
Leber hereditary optic neuropathy.
Yu-Wai-Man P, Turnbull DM, Chinnery PF. Yu-Wai-Man P, et al. J Med Genet. 2002 Mar;39(3):162-9. doi: 10.1136/jmg.39.3.162. J Med Genet. 2002. PMID: 11897814 Free PMC article. Review.
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.
Hudson G, Carelli V, Spruijt L, Gerards M, Mowbray C, Achilli A, Pyle A, Elson J, Howell N, La Morgia C, Valentino ML, Huoponen K, Savontaus ML, Nikoskelainen E, Sadun AA, Salomao SR, Belfort R Jr, Griffiths P, Yu-Wai-Man P, de Coo RF, Horvath R, Zeviani M, Smeets HJ, Torroni A, Chinnery PF. Hudson G, et al. Am J Hum Genet. 2007 Aug;81(2):228-33. doi: 10.1086/519394. Epub 2007 Jun 4. Am J Hum Genet. 2007. PMID: 17668373 Free PMC article.
234 results