Publications

Found 22 results
Filters: Keyword is Mitochondrial Myopathies  [Clear All Filters]
2012
AlSaman A, Tomoum H, Invernizzi F & Zeviani M (2012) Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene. Saudi J Gastroenterol 18, 285-9
Arzuffi P, Lamperti C, Fernandez-Vizarra E, Tonin P, Morandi L & Zeviani M (2012) Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy. Neuromuscul Disord 22, 50-5
2009
Poulton J & Holt IJ (2009) 163rd ENMC International Workshop: nucleoid and nucleotide biology in syndromes of mitochondrial DNA depletion myopathy 12-14 December 2008, Naarden, The Netherlands. Neuromuscul Disord 19, 439-43
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
2008
Zeviani M (2008) Train, train, train! No pain, just gain. Brain 131, 2809-11
2007
Vergani L, Malena A, Sabatelli P, Loro E, Cavallini L, Magalhaes P, Valente L, Bragantini F, Carrara F, Leger B, Poulton J, Russell AP & Holt IJ (2007) Cultured muscle cells display defects of mitochondrial myopathy ameliorated by anti-oxidants. Brain 130, 2715-24
Alberio S, Mineri R, Tiranti V & Zeviani M (2007) Depletion of mtDNA: syndromes and genes. Mitochondrion 7, 6-12
Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V & Zeviani M (2007) Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). J Med Genet 44, 173-80
2005
Palmieri L, Alberio S, Pisano I, Lodi T, Meznaric-Petrusa M, Zidar J, Santoro A, Scarcia P, Fontanesi F, Lamantea E, Ferrero I & Zeviani M (2005) Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. Hum Mol Genet 14, 3079-88
Wang L, Limongelli A, Vila MR, Carrara F, Zeviani M & Eriksson S (2005) Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes. Mol Genet Metab 84, 75-82
2003
Taylor RW, McDonnell MT, Blakely EL, Chinnery PF, Taylor GA, Howell N, Zeviani M, Briem E, Carrara F & Turnbull DM (2003) Genotypes from patients indicate no paternal mitochondrial DNA contribution. Ann Neurol 54, 521-4
2002
Spinazzola A, Martí R, Nishino I, Andreu AL, Naini A, Tadesse S, Pela I, Zammarchi E, M Donati A, Oliver JA & Hirano M (2002) Altered thymidine metabolism due to defects of thymidine phosphorylase. J Biol Chem 277, 4128-33
2001
Taylor RW, Wardell TM, Smith PM, Muratovska A, Murphy MP, Turnbull DM & Lightowlers RN (2001) An antigenomic strategy for treating heteroplasmic mtDNA disorders. Adv Drug Deliv Rev 49, 121-5
2000
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
1999
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
Zeviani M, Corona P, Nijtmans L & Tiranti V (1999) Nuclear gene defects in mitochondrial disorders. Ital J Neurol Sci 20, 401-8
1998
Zeviani M, Tiranti V & Piantadosi C (1998) Mitochondrial disorders. Medicine (Baltimore) 77, 59-72
1997
Zeviani M, Fernandez-Silva P & Tiranti V (1997) Disorders of mitochondria and related metabolism. Curr Opin Neurol 10, 160-7
Zeviani M & Antozzi C (1997) Mitochondrial disorders. Mol Hum Reprod 3, 133-48
1995
Zeviani M, Mariotti C, Antozzi C, Fratta GM, Rustin P & Prelle A (1995) OXPHOS defects and mitochondrial DNA mutations in cardiomyopathy. Muscle Nerve Suppl 3, S170-4
1994
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
1993
Zeviani M, Muntoni F, Savarese N, Serra G, Tiranti V, Carrara F, Mariotti C & DiDonato S (1993) A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene. Eur J Hum Genet 1, 80-7