Publications

Found 30 results
Filters: Keyword is Leigh Disease  [Clear All Filters]
2018
Catania A, Ardissone A, Verrigni D, Legati A, Reyes A, Lamantea E, Diodato D, Tonduti D, Imperatore V, Pinto AMaria, Moroni I, Bertini E, Robinson AJ, Carrozzo R, Zeviani M & Ghezzi D (2018) Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis. J Hum Genet 63, 563-568
2014
Da-Rè C, von Stockum S, Biscontin A, Millino C, Cisotto P, Zordan MA, Zeviani M, Bernardi P, De Pittà C & Costa R (2014) Leigh syndrome in Drosophila melanogaster: morphological and biochemical characterization of Surf1 post-transcriptional silencing. J Biol Chem 289, 29235-46
2011
Stettner GM, Viscomi C, Zeviani M, Wilichowski E & Dutschmann M (2011) Hypoxic and hypercapnic challenges unveil respiratory vulnerability of Surf1 knockout mice, an animal model of Leigh syndrome. Mitochondrion 11, 413-20
Uziel G, Ghezzi D & Zeviani M (2011) Infantile mitochondrial encephalopathy. Semin Fetal Neonatal Med 16, 205-15
2005
Bugiani M, Tiranti V, Farina L, Uziel G & Zeviani M (2005) Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. J Med Genet 42, e28
2004
Bugiani M, Invernizzi F, Alberio S, Briem E, Lamantea E, Carrara F, Moroni I, Farina L, Spada M, Donati MA, Uziel G & Zeviani M (2004) Clinical and molecular findings in children with complex I deficiency. Biochim Biophys Acta 1659, 136-47
2003
Crimi M, Galbiati S, Moroni I, Bordoni A, Perini MPaola, Lamantea E, Sciacco M, Zeviani M, Biunno I, Moggio M, Scarlato G & Comi GPietro (2003) A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. Neurology 60, 1857-61
2002
Carelli V, Baracca A, Barogi S, Pallotti F, Valentino MLucia, Montagna P, Zeviani M, Pini A, Lenaz G, Baruzzi A & Solaini G (2002) Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation. Arch Neurol 59, 264-70
Farina L, Chiapparini L, Uziel G, Bugiani M, Zeviani M & Savoiardo M (2002) MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations. AJNR Am J Neuroradiol 23, 1095-100
Savoiardo M, Zeviani M, Uziel G & Farina L (2002) MRI in Leigh syndrome with SURF1 gene mutation. Ann Neurol 51, 138-9
Bruno C, Biancheri R, Garavaglia B, Biedi C, Rossi A, Lamba LDoria, Bado M, Greco M, Zeviani M & Minetti C (2002) A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency. J Child Neurol 17, 233-6
2001
Canafoglia L, Franceschetti S, Antozzi C, Carrara F, Farina L, Granata T, Lamantea E, Savoiardo M, Uziel G, Villani F, Zeviani M & Avanzini G (2001) Epileptic phenotypes associated with mitochondrial disorders. Neurology 56, 1340-6
Pequignot MO, Dey R, Zeviani M, Tiranti V, Godinot C, Poyau A, Sue C, Di Mauro S, Abitbol M & Marsac C (2001) Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency. Hum Mutat 17, 374-81
Pequignot MO, Desguerre I, Dey R, Tartari M, Zeviani M, Agostino A, Benelli C, Fouque F, Prip-Buus C, Marchant D, Abitbol M & Marsac C (2001) New splicing-site mutations in the SURF1 gene in Leigh syndrome patients. J Biol Chem 276, 15326-9
Petruzzella V, Vergari R, Puzziferri I, Boffoli D, Lamantea E, Zeviani M & Papa S (2001) A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome. Hum Mol Genet 10, 529-35
Wittig I, Augstein P, Brown GK, Fujii T, Rotig A, Rustin P, Munnich A, Seibel P, Thorburn D, Wissinger B, Tamboom K, Metspalu A, Lamantea E, Zeviani M & Wehnert MS (2001) Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain. J Inherit Metab Dis 24, 15-27
2000
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
1999
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
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
Zeviani M, Corona P, Nijtmans L & Tiranti V (1999) Nuclear gene defects in mitochondrial disorders. Ital J Neurol Sci 20, 401-8
1998
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
Petruzzella V, Tiranti V, Fernandez P, Ianna P, Carrozzo R & Zeviani M (1998) Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain. Genomics 54, 494-504
Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, Gasparini P, Marzella R, Rocchi M, Bayona-Bafaluy MP, Enriquez JA, Uziel G, Bertini E, Dionisi-Vici C, Franco B, Meitinger T & Zeviani M (1998) Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 63, 1609-21
1997
Uziel G, Moroni I, Lamantea E, Fratta GM, Ciceri E, Carrara F & Zeviani M (1997) Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. J Neurol Neurosurg Psychiatry 63, 16-22

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