Publications
2012
Bricker DK, Taylor EB, Schell JC, Orsak T, Boutron A, Chen Y-C, Cox JE, Cardon CM, Van Vranken JG, Dephoure N, Redin C, Boudina S, Gygi SP, Brivet M, Thummel CS & Rutter J (2012)
A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humans. Science 337, 96-100
2011
Bason JV, Runswick MJ, Fearnley IM & Walker JE (2011)
Binding of the inhibitor protein IF(1) to bovine F(1)-ATPase. J Mol Biol 406, 443-53
Baruffini E, Horvath R, Dallabona C, Czermin B, Lamantea E, Bindoff L, Invernizzi F, Ferrero I, Zeviani M & Lodi T (2011)
Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. Mitochondrion 11, 182-90
2008
Massa V, Fernandez-Vizarra E, Alshahwan S, Bakhsh E, Goffrini P, Ferrero I, Mereghetti P, D'Adamo P, Gasparini P & Zeviani M (2008)
Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. Am J Hum Genet 82, 1281-9
2005
Hudson G, Keers S, Yu-Wai-Man P, Griffiths P, Huoponen K, Savontaus M-L, Nikoskelainen E, Zeviani M, Carrara F, Horvath R, Karcagi V, Spruijt L, de Coo IFM, Smeets HJM & Chinnery PF (2005)
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder. Am J Hum Genet 77, 1086-91
2003
Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, Schaefer AM, Turnbull DM, Tiranti V & Zeviani M (2003)
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). Neurology 60, 1354-6
Yu-Wai-Man P, Morris CM, Zeviani M, Carrara F, Turnbull DM & Chinnery PF (2003)
The role of APOE in the phenotypic expression of Leber hereditary optic neuropathy. J Med Genet 40, e41
2002
Corona P, Lamantea E, Greco M, Carrara F, Agostino A, Guidetti D, Dotti MT, Mariotti C & Zeviani M (2002)
Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations. Ann Neurol 51, 118-22
Bruno C, Biancheri R, Garavaglia B, Biedi C, Rossi A, Lamba LDoria, Bado M, Greco M, Zeviani M & Minetti C (2002)
A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency. J Child Neurol 17, 233-6
2000
Börner GV, Zeviani M, Tiranti V, Carrara F, Hoffmann S, Gerbitz KD, Lochmüller H, Pongratz D, Klopstock T, Melberg A, Holme E & Pääbo S (2000)
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. Hum Mol Genet 9, 467-75
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