Publications

Found 11 results
Filters: Keyword is Genes, Dominant  [Clear All Filters]
2017
Hewitt VL & Whitworth AJ (2017) Mechanisms of Parkinson's Disease: Lessons from Drosophila. Curr Top Dev Biol 121, 173-200
2016
Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Ounap K, Elpeleg O, Ferrero I, McFarland R, Kunji ERS & Taylor RW (2016) Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. Am J Hum Genet 99, 860-876
2005
Zeviani M & Carelli V (2005) Dominance in mitochondrial disorders. J Inherit Metab Dis 28, 287-99
2004
Graziewicz MA, Longley MJ, Bienstock RJ, Zeviani M & Copeland WC (2004) Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia. Nat Struct Mol Biol 11, 770-6
2003
Arenas J, Briem E, Dahl H, Hutchison W, Lewis S, Martin MA, Spelbrink H, Tiranti V, Jacobs H & Zeviani M (2003) The V368i mutation in Twinkle does not segregate with AdPEO. Ann Neurol 53, 278
2002
Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, Papadimitriou A, Spelbrink H, Silvestri L, Casari G, Comi GP & Zeviani M (2002) Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol 52, 211-9
2000
Kaukonen J, Juselius JK, Tiranti V, Kyttälä A, Zeviani M, Comi GP, Keränen S, Peltonen L & Suomalainen A (2000) Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 289, 782-5
1995
Zeviani M, Amati P, Comi G, Fratta G, Mariotti C & Tiranti V (1995) Searching for genes affecting the structural integrity of the mitochondrial genome. Biochim Biophys Acta 1271, 153-8
1991
Servidei S, Zeviani M, Manfredi G, Ricci E, Silvestri G, Bertini E, Gellera C, Di Mauro S, Di Donato S & Tonali P (1991) Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies. Neurology 41, 1053-9
1990
Zeviani M, Bresolin N, Gellera C, Bordoni A, Pannacci M, Amati P, Moggio M, Servidei S, Scarlato G & DiDonato S (1990) Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. Am J Hum Genet 47, 904-14
1989
Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S & DiDonato S (1989) An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 339, 309-11