Publications

Found 16 results
Filters: Keyword is Disease Progression  [Clear All Filters]
2017
Majander A, Bowman R, Poulton J, Antcliff RJ, M Reddy A, Michaelides M, Webster AR, Chinnery PF, Votruba M, Moore AT & Yu-Wai-Man P (2017) Childhood-onset Leber hereditary optic neuropathy. Br J Ophthalmol 101, 1505-1509
Steele HE, Horvath R, Lyon JJ & Chinnery PF (2017) Monitoring clinical progression with mitochondrial disease biomarkers. Brain 140, 2530-2540
Lawson RA, Yarnall AJ, Duncan GW, Breen DP, Khoo TK, Williams-Gray CH, Barker RA & Burn DJ (2017) Stability of mild cognitive impairment in newly diagnosed Parkinson's disease. J Neurol Neurosurg Psychiatry 88, 648-652
2013
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GPietro, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Ienco ECaldarazzo, Filosto M, Lamperti C, Martinelli D, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FMaria, Sauchelli D, Scarpelli M, Sciacco M, Spinazzi M, Valentino MLucia, Vercelli L, Zeviani M & Siciliano G (2013) Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. Neurology 80, 2049-54
2012
Lamperti C, Diodato D, Lamantea E, Carrara F, Ghezzi D, Mereghetti P, Rizzi R & Zeviani M (2012) MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I. Neuromuscul Disord 22, 990-4
2010
Tzoulis C, Neckelmann G, Mørk SJ, Engelsen BE, Viscomi C, Moen G, Ersland L, Zeviani M & Bindoff LA (2010) Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. Brain 133, 1428-37
2009
Lamperti C & Zeviani M (2009) Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk. Acta Myol 28, 2-11
Hudson G, Yu-Wai-Man P, Zeviani M & Chinnery PF (2009) Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy. Mol Vis 15, 870-5
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
2008
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
2006
Tzoulis C, Engelsen BA, Telstad W, Aasly J, Zeviani M, Winterthun S, Ferrari G, Aarseth JH & Bindoff LA (2006) The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain 129, 1685-92
2005
Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, Engelsen BA, Moen G & Bindoff LA (2005) Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology 64, 1204-8
Ferrari G, Lamantea E, Donati A, Filosto M, Briem E, Carrara F, Parini R, Simonati A, Santer R & Zeviani M (2005) Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain 128, 723-31
2004
Loktionov A (2004) Common gene polymorphisms, cancer progression and prognosis. Cancer Lett 208, 1-33
1995
Mariotti C, Uziel G, Carrara F, Mora M, Prelle A, Tiranti V, DiDonato S & Zeviani M (1995) Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study. J Neurol 242, 547-56