Found 26 results
Filters: Keyword is Gene Deletion  [Clear All Filters]
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GPietro, Donati MAlice, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FMaria, Servidei S, Tonin P, Toscano A, Bruno C, Bello L, Ienco ECaldarazzo, Cardaioli E, Catteruccia M, Da Pozzo P, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Sauchelli D, Scarpelli M, Sciacco M, Valentino MLucia, Vercelli L, Zeviani M & Siciliano G (2015) Redefining phenotypes associated with mitochondrial DNA single deletion. J Neurol 262, 1301-9
Holt IJ (2010) Zen and the art of mitochondrial DNA maintenance. Trends Genet 26, 103-9
Mao C-C & Holt IJ (2009) Clinical and molecular aspects of diseases of mitochondrial DNA instability. Chang Gung Med J 32, 354-69
Spinazzola A & Zeviani M (2009) Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk. J Intern Med 265, 174-92
Lamperti C & Zeviani M (2009) Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk. Acta Myol 28, 2-11
Chinnery PF & Zeviani M (2008) 155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands. Neuromuscul Disord 18, 259-67
Bugiani M, Gyftodimou Y, Tsimpouka P, Lamantea E, Katzaki E, D'Adamo P, Nakou S, Georgoudi N, Grigoriadou M, Tsina E, Kabolis N, Milani D, Pandelia E, Kokotas H, Gasparini P, Giannoulia-Karantana A, Renieri A, Zeviani M & Petersen MB (2008) Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. Am J Med Genet A 146A, 2221-6
Tremelling M, Hancock L, Bredin F, Sharpstone D, Bingham SA & Parkes M (2006) Complex insertion/deletion polymorphism in NOD1 (CARD4) is not associated with inflammatory bowel disease susceptibility in East Anglia panel. Inflamm Bowel Dis 12, 967-71
Kokoszka JE, Waymire KG, Levy SE, Sligh JE, Cai J, Jones DP, MacGregor GR & Wallace DC (2004) The ADP/ATP translocator is not essential for the mitochondrial permeability transition pore. Nature 427, 461-5
Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmüller H, Horvath R, Deschauer M, Thorburn DR, Bindoff LA, Poulton J, Taylor RW, Matthews JNS & Turnbull DM (2004) Risk of developing a mitochondrial DNA deletion disorder. Lancet 364, 592-6
Minczuk M, Dmochowska A, Palczewska M & Stepien PP (2002) Overexpressed yeast mitochondrial putative RNA helicase Mss116 partially restores proper mtRNA metabolism in strains lacking the Suv3 mtRNA helicase. Yeast 19, 1285-93
Echtay KS, Roussel D, St-Pierre J, Jekabsons MB, Cadenas S, Stuart JA, Harper JA, Roebuck SJ, Morrison A, Pickering S, Clapham JC & Brand MD (2002) Superoxide activates mitochondrial uncoupling proteins. Nature 415, 96-9
Picon A, Kunji ER, Lanfermeijer FC, Konings WN & Poolman B (2000) Specificity mutants of the binding protein of the oligopeptide transport system of Lactococcus lactis. J Bacteriol 182, 1600-8
Kaukonen J, Zeviani M, Comi GP, Piscaglia MG, Peltonen L & Suomalainen A (1999) A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia. Am J Hum Genet 65, 256-61
Comi GP, Bordoni A, Salani S, Franceschina L, Sciacco M, Prelle A, Fortunato F, Zeviani M, Napoli L, Bresolin N, Moggio M, Ausenda CD, Taanman JW & Scarlato G (1998) Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease. Ann Neurol 43, 110-6
Zeviani M, Moraes CT, DiMauro S, Nakase H, Bonilla E, Schon EA & Rowland LP (1998) Deletions of mitochondrial DNA in Kearns-Sayre syndrome. 1988. Neurology 51, 1525 and 8 pages following
Zeviani M, Tiranti V & Piantadosi C (1998) Mitochondrial disorders. Medicine (Baltimore) 77, 59-72
Zeviani M, Petruzzella V & Carrozzo R (1997) Disorders of nuclear-mitochondrial intergenomic signalling. J Bioenerg Biomembr 29, 121-30
Tengan CH, Gabbai AA, Shanske S, Zeviani M & Moraes CT (1997) Oxidative phosphorylation dysfunction does not increase the rate of accumulation of age-related mtDNA deletions in skeletal muscle. Mutat Res 379, 1-11
Kunji ER, Mierau I, Poolman B, Konings WN, Venema G & Kok J (1996) Fate of peptides in peptidase mutants of Lactococcus lactis. Mol Microbiol 21, 123-31
Suomalainen A, Kaukonen J, Amati P, Timonen R, Haltia M, Weissenbach J, Zeviani M, Somer H & Peltonen L (1995) An autosomal locus predisposing to deletions of mitochondrial DNA. Nat Genet 9, 146-51
Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P & Zeviani M (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80, 155-65
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
Melki J, Lefebvre S, Bürglen L, Burlet P, Clermont O, Millasseau P, Reboullet S, Benichou B, Zeviani M & Le Paslier D (1994) De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 264, 1474-7
Prelle A, Fagiolari G, Checcarelli N, Moggio M, Battistel A, Comi GP, Bazzi P, Bordoni A, Zeviani M & Scarlato G (1994) Mitochondrial myopathy: correlation between oxidative defect and mitochondrial DNA deletions at single fiber level. Acta Neuropathol 87, 371-6