Found 101 results
Filters: Keyword is Mitochondrial Diseases  [Clear All Filters]
Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M & Chinnery PF (2006) Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 129, 1674-84
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
Salih MA, Abdel-Gader A-GM, Zahraa JN, Al-Rayess MM, Alorainy IA, Hassan HH, Ruitenbeek W & Zeviani M (2006) Stroke due to mitochondrial disorders in Saudi children. Saudi Med J 27 Suppl 1, S81-90
Calvo S, Jain M, Xie X, Sheth SA, Chang B, Goldberger OA, Spinazzola A, Zeviani M, Carr SA & Mootha VK (2006) Systematic identification of human mitochondrial disease genes through integrative genomics. Nat Genet 38, 576-82
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
Spinazzola A & Zeviani M (2005) Disorders of nuclear-mitochondrial intergenomic signaling. Gene 354, 162-8
Zeviani M & Carelli V (2005) Dominance in mitochondrial disorders. J Inherit Metab Dis 28, 287-99
Vogel RO, Janssen RJRJ, Ugalde C, Grovenstein M, Huijbens RJ, Visch H-J, van den Heuvel LP, Willems PH, Zeviani M, Smeitink JAM & Nijtmans LGJ (2005) Human mitochondrial complex I assembly is mediated by NDUFAF1. FEBS J 272, 5317-26
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
Yasukawa T, Kirino Y, Ishii N, Holt IJ, Jacobs HT, Makifuchi T, Fukuhara N, Ohta S, Suzuki T & Watanabe K (2005) Wobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases. FEBS Lett 579, 2948-52
Tovo P-A, Chiapello N, Gabiano C, Zeviani M & Spada M (2005) Zidovudine administration during pregnancy and mitochondrial disease in the offspring. Antivir Ther 10, 697-9
Zeviani M (2004) Mitochondrial disorders. Suppl Clin Neurophysiol 57, 304-12
Zeviani M & Di Donato S (2004) Mitochondrial disorders. Brain 127, 2153-72
Palmieri F (2004) The mitochondrial transporter family (SLC25): physiological and pathological implications. Pflugers Arch 447, 689-709
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
Limongelli A, Schaefer J, Jackson S, Invernizzi F, Kirino Y, Suzuki T, Reichmann H & Zeviani M (2004) Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome. J Med Genet 41, 342-9
Agostino A, Invernizzi F, Tiveron C, Fagiolari G, Prelle A, Lamantea E, Giavazzi A, Battaglia G, Tatangelo L, Tiranti V & Zeviani M (2003) Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice. Hum Mol Genet 12, 399-413
Zeviani M & Carelli V (2003) Mitochondrial disorders. Curr Opin Neurol 16, 585-94
Zeviani M & Spinazzola A (2003) Mitochondrial disorders. Curr Neurol Neurosci Rep 3, 423-32
Zeviani M, Spinazzola A & Carelli V (2003) Nuclear genes in mitochondrial disorders. Curr Opin Genet Dev 13, 262-70
Chinnery PF, Samuels DC, Elson J & Turnbull DM (2002) Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism?. Lancet 360, 1323-5
James AM & Murphy MP (2002) How mitochondrial damage affects cell function. J Biomed Sci 9, 475-87
Murphy MP (2001) Development of lipophilic cations as therapies for disorders due to mitochondrial dysfunction. Expert Opin Biol Ther 1, 753-64
Zeviani M (2001) The expanding spectrum of nuclear gene mutations in mitochondrial disorders. Semin Cell Dev Biol 12, 407-16
Zeviani M & Klopstock T (2001) Mitochondrial disorders. Curr Opin Neurol 14, 553-60