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Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy.
Achilli A, Iommarini L, Olivieri A, Pala M, Hooshiar Kashani B, Reynier P, La Morgia C, Valentino ML, Liguori R, Pizza F, Barboni P, Sadun F, De Negri AM, Zeviani M, Dollfus H, Moulignier A, Ducos G, Orssaud C, Bonneau D, Procaccio V, Leo-Kottler B, Fauser S, Wissinger B, Amati-Bonneau P, Torroni A, Carelli V. Achilli A, et al. Among authors: zeviani m. PLoS One. 2012;7(8):e42242. doi: 10.1371/journal.pone.0042242. Epub 2012 Aug 3. PLoS One. 2012. PMID: 22879922 Free PMC article.
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.
Carelli V, Achilli A, Valentino ML, Rengo C, Semino O, Pala M, Olivieri A, Mattiazzi M, Pallotti F, Carrara F, Zeviani M, Leuzzi V, Carducci C, Valle G, Simionati B, Mendieta L, Salomao S, Belfort R Jr, Sadun AA, Torroni A. Carelli V, et al. Among authors: zeviani m. Am J Hum Genet. 2006 Apr;78(4):564-74. doi: 10.1086/501236. Epub 2006 Jan 27. Am J Hum Genet. 2006. PMID: 16532388 Free PMC article.
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.
Torroni A, Petrozzi M, D'Urbano L, Sellitto D, Zeviani M, Carrara F, Carducci C, Leuzzi V, Carelli V, Barboni P, De Negri A, Scozzari R. Torroni A, et al. Among authors: zeviani m. Am J Hum Genet. 1997 May;60(5):1107-21. Am J Hum Genet. 1997. PMID: 9150158 Free PMC article.
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. Among authors: zeviani m. 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.
Mitochondrial disorders.
Zeviani M, Carelli V. Zeviani M, et al. Curr Opin Neurol. 2007 Oct;20(5):564-71. doi: 10.1097/WCO.0b013e3282ef58cd. Curr Opin Neurol. 2007. PMID: 17885446 Review.
Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations.
Lodi R, Tonon C, Valentino ML, Manners D, Testa C, Malucelli E, La Morgia C, Barboni P, Carbonelli M, Schimpf S, Wissinger B, Zeviani M, Baruzzi A, Liguori R, Barbiroli B, Carelli V. Lodi R, et al. Among authors: zeviani m. Arch Neurol. 2011 Jan;68(1):67-73. doi: 10.1001/archneurol.2010.228. Epub 2010 Sep 13. Arch Neurol. 2011. PMID: 20837821
Idebenone treatment in Leber's hereditary optic neuropathy.
Carelli V, La Morgia C, Valentino ML, Rizzo G, Carbonelli M, De Negri AM, Sadun F, Carta A, Guerriero S, Simonelli F, Sadun AA, Aggarwal D, Liguori R, Avoni P, Baruzzi A, Zeviani M, Montagna P, Barboni P. Carelli V, et al. Among authors: zeviani m. Brain. 2011 Sep;134(Pt 9):e188. doi: 10.1093/brain/awr180. Epub 2011 Aug 2. Brain. 2011. PMID: 21810891 No abstract available.
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. Among authors: zeviani m. Brain. 2014 Feb;137(Pt 2):335-53. doi: 10.1093/brain/awt343. Epub 2013 Dec 24. Brain. 2014. PMID: 24369379 Free PMC article.
Mitochondrial Retinopathies.
Zeviani M, Carelli V. Zeviani M, et al. Int J Mol Sci. 2021 Dec 25;23(1):210. doi: 10.3390/ijms23010210. Int J Mol Sci. 2021. PMID: 35008635 Free PMC article. Review.
Mitochondrial disorders.
Zeviani M, Carelli V. Zeviani M, et al. Curr Opin Neurol. 2003 Oct;16(5):585-94. doi: 10.1097/01.wco.0000093101.34793.c8. Curr Opin Neurol. 2003. PMID: 14501842 Review.
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