Publications

Found 101 results
Filters: Keyword is Mitochondrial Diseases  [Clear All Filters]
2009
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, Invernizzi F, Carrara F, Lamantea E, Donati A, Dirocco M, Giordano I, Meznaric-Petrusa M, Baruffini E, Ferrero I & Zeviani M (2009) Clinical and molecular features of mitochondrial DNA depletion syndromes. J Inherit Metab Dis 32, 143-58
Poulton J, Hirano M, Spinazzola A, M Hernandez A, Jardel C, Lombès A, Czermin B, Horvath R, Taanman JW, Rotig A, Zeviani M & Fratter C (2009) Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). Biochim Biophys Acta 1792, 1109-12
Iacovino M, Granycome C, Sembongi H, Bokori-Brown M, Butow RA, Holt IJ & Bateman JM (2009) The conserved translocase Tim17 prevents mitochondrial DNA loss. Hum Mol Genet 18, 65-74
Spinazzola A & Zeviani M (2009) Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk. J Intern Med 265, 174-92
Finsterer J, Harbo HF, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CME, Zeviani M, Burgunder J-M & Gasser T (2009) EFNS guidelines on the molecular diagnosis of mitochondrial disorders. Eur J Neurol 16, 1255-64
Parini R, Furlan F, Notarangelo L, Spinazzola A, Uziel G, Strisciuglio P, Concolino D, Corbetta C, Nebbia G, Menni F, Rossi G, Maggioni M & Zeviani M (2009) Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients. J Hepatol 50, 215-21
Spinazzola A & Zeviani M (2009) Mitochondrial diseases: a cross-talk between mitochondrial and nuclear genomes. Adv Exp Med Biol 652, 69-84
2008
Minczuk M, Papworth MA, Miller JC, Murphy MP & Klug A (2008) Development of a single-chain, quasi-dimeric zinc-finger nuclease for the selective degradation of mutated human mitochondrial DNA. Nucleic Acids Res 36, 3926-38
Tuppen HAL, Fattori F, Carrozzo R, Zeviani M, DiMauro S, Seneca S, Martindale JE, Olpin SE, Treacy EP, McFarland R, Santorelli FM & Taylor RW (2008) Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations. J Med Genet 45, 55-61
Spinazzola A, Santer R, Akman OH, Tsiakas K, Schaefer H, Ding X, Karadimas CL, Shanske S, Ganesh J, Di Mauro S & Zeviani M (2008) Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. Arch Neurol 65, 1108-13
Spinazzola A, Massa V, Hirano M & Zeviani M (2008) Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians. Neuromuscul Disord 18, 315-8
Elliott HR, Samuels DC, Eden JA, Relton CL & Chinnery PF (2008) Pathogenic mitochondrial DNA mutations are common in the general population. Am J Hum Genet 83, 254-60
Engelsen BA, Tzoulis C, Karlsen B, Lillebø A, Laegreid LM, Aasly J, Zeviani M & Bindoff LA (2008) POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain 131, 818-28
2007
Ashley N, Adams S, Slama A, Zeviani M, Suomalainen A, Andreu AL, Naviaux RK & Poulton J (2007) Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances. Hum Mol Genet 16, 1400-11
Alberio S, Mineri R, Tiranti V & Zeviani M (2007) Depletion of mtDNA: syndromes and genes. Mitochondrion 7, 6-12
Spinazzola A & Zeviani M (2007) Disorders of nuclear-mitochondrial intergenomic communication. Biosci Rep 27, 39-51
Fernandez-Vizarra E, Bugiani M, Goffrini P, Carrara F, Farina L, Procopio E, Donati A, Uziel G, Ferrero I & Zeviani M (2007) Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. Hum Mol Genet 16, 1241-52
Morten KJ, Ashley N, Wijburg F, Hadzic N, Parr J, Jayawant S, Adams S, Bindoff L, Bakker HD, Mieli-Vergani G, Zeviani M & Poulton J (2007) Liver mtDNA content increases during development: a comparison of methods and the importance of age- and tissue-specific controls for the diagnosis of mtDNA depletion. Mitochondrion 7, 386-95
Holt IJ, He J, Mao C-C, Boyd-Kirkup JD, Martinsson P, Sembongi H, Reyes A & Spelbrink JN (2007) Mammalian mitochondrial nucleoids: organizing an independently minded genome. Mitochondrion 7, 311-21
Zeviani M & Carelli V (2007) Mitochondrial disorders. Curr Opin Neurol 20, 564-71
Cochemé HM, Kelso GF, James AM, Ross MF, Trnka J, Mahendiran T, Asin-Cayuela J, Blaikie FH, Manas A-RB, Porteous CM, Adlam VJ, Smith RAJ & Murphy MP (2007) Mitochondrial targeting of quinones: therapeutic implications. Mitochondrion 7 Suppl, S94-102
Murphy MP & Smith RAJ (2007) Targeting antioxidants to mitochondria by conjugation to lipophilic cations. Annu Rev Pharmacol Toxicol 47, 629-56
2006
Bugiani M, Lamantea E, Invernizzi F, Moroni I, Bizzi A, Zeviani M & Uziel G (2006) Effects of riboflavin in children with complex II deficiency. Brain Dev 28, 576-81
Smeitink JA, Zeviani M, Turnbull DM & Jacobs HT (2006) Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders. Cell Metab 3, 9-13

Pages