Found 1008 results
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Clapham JC, Arch JR, Chapman H, Haynes A, Lister C, Moore GB, Piercy V, Carter SA, Lehner I, Smith SA, Beeley LJ, Godden RJ, Herrity N, Skehel M, Changani KK, Hockings PD, Reid DG, Squires SM, Hatcher J, Trail B, Latcham J, Rastan S, Harper AJ, Cadenas S, Buckingham JA, Brand MD & Abuin A (2000) Mice overexpressing human uncoupling protein-3 in skeletal muscle are hyperphagic and lean. Nature 406, 415-8
Uziel G, Carrara F, Granata T, Lamantea E, Mora M & Zeviani M (2000) Neuromuscular syndrome associated with the 3291T-->C mutation of mitochondrial DNA: a second case. Neuromuscul Disord 10, 415-8
Tiranti V, Corona P, Greco M, Taanman JW, Carrara F, Lamantea E, Nijtmans L, Uziel G & Zeviani M (2000) A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome. Hum Mol Genet 9, 2733-42
Jacobs HT & Holt IJ (2000) The np 3243 MELAS mutation: damned if you aminoacylate, damned if you don't. Hum Mol Genet 9, 463-5
Vergani L, Prescott AR & Holt IJ (2000) Rhabdomyosarcoma rho(0) cells: isolation and characterization of a mitochondrial DNA depleted cell line with 'muscle-like' properties. Neuromuscul Disord 10, 454-9
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
Henderson NS, Nijtmans LG, Lindsay JG, Lamantea E, Zeviani M & Holt IJ (2000) Separation of intact pyruvate dehydrogenase complex using blue native agarose gel electrophoresis. Electrophoresis 21, 2925-31
Buttgereit F, Burmester GR & Brand MD (2000) Therapeutically targeting lymphocyte energy metabolism by high-dose glucocorticoids. Biochem Pharmacol 59, 597-603
Carta A, D'Adda T, Carrara F & Zeviani M (2000) Ultrastructural analysis of extraocular muscle in chronic progressive external ophthalmoplegia. Arch Ophthalmol 118, 1441-5
Brand MD (2000) Uncoupling to survive? The role of mitochondrial inefficiency in ageing. Exp Gerontol 35, 811-20
Black AE, Welch AA & Bingham SA (2000) Validation of dietary intakes measured by diet history against 24 h urinary nitrogen excretion and energy expenditure measured by the doubly-labelled water method in middle-aged women. Br J Nutr 83, 341-54
Rovio A, Tiranti V, Bednarz AL, Suomalainen A, Spelbrink JN, Lecrenier N, Melberg A, Zeviani M, Poulton J, Foury F & Jacobs HT (1999) Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals. Eur J Hum Genet 7, 140-6
Tiranti V, Galimberti C, Nijtmans L, Bovolenta S, Perini MP & Zeviani M (1999) Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions. Hum Mol Genet 8, 2533-40
Arenas J, Campos Y, Bornstein B, Ribacoba R, Martín MA, Rubio JC, Santorelli FM, Zeviani M, DiMauro S & Garesse R (1999) A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers. Neurology 52, 377-82
Verhoeven K, Ensink RJ, Tiranti V, Huygen PL, Johnson DF, Schatteman I, Van Laer L, Verstreken M, Van de Heyning P, Fischel-Ghodsian N, Zeviani M, Cremers CW, Willems PJ & Van Camp G (1999) Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene. Eur J Hum Genet 7, 45-51
Tiranti V, Lamantea E, Uziel G, Zeviani M, Gasparini P, Marzella R, Rocchi M & Fried M (1999) Leigh syndrome transmitted by uniparental disomy of chromosome 9. J Med Genet 36, 927-8
Tiranti V, Jaksch M, Hofmann S, Galimberti C, Hoertnagel K, Lulli L, Freisinger P, Bindoff L, Gerbitz KD, Comi GP, Uziel G, Zeviani M & Meitinger T (1999) Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. Ann Neurol 46, 161-6
Bruno C, Kirby DM, Koga Y, Garavaglia B, Duran G, Santorelli FM, Shield LK, Xia W, Shanske S, Goldstein JD, Iwanaga R, Akita Y, Carrara F, Davis A, Zeviani M, Thorburn DR & DiMauro S (1999) The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy. J Pediatr 135, 197-202
Tiranti V, Carrara F, Confalonieri P, Mora M, Maffei RM, Lamantea E & Zeviani M (1999) A novel mutation (8342G-->A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus. Neuromuscul Disord 9, 66-71
Zeviani M, Corona P, Nijtmans L & Tiranti V (1999) Nuclear gene defects in mitochondrial disorders. Ital J Neurol Sci 20, 401-8
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
Estivill X, Govea N, Barceló E, Badenas C, Romero E, Moral L, Scozzri R, D'Urbano L, Zeviani M & Torroni A (1998) Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am J Hum Genet 62, 27-35
Dionisi-Vici C, Seneca S, Zeviani M, Fariello G, Rimoldi M, Bertini E & De Meirleir L (1998) Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene. J Inherit Metab Dis 21, 2-8