Publications

Found 20 results
Filters: Keyword is Heterozygote  [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
Kullar PJ, Gomez-Duran A, Gammage PA, Garone C, Minczuk M, Golder Z, Wilson J, Montoya J, Häkli S, Kärppä M, Horvath R, Majamaa K & Chinnery PF (2018) Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family. Brain 141, 55-62
Hofherr A, Seger C, Fitzpatrick F, Busch T, Michel E, Luan J, Osterried L, Linden F, Kramer-Zucker A, Wakimoto B, Schütze C, Wiedemann N, Artati A, Adamski J, Walz G, Kunji ERS, Montell C, Watnick T & Köttgen M (2018) The mitochondrial transporter SLC25A25 links ciliary TRPP2 signaling and cellular metabolism. PLoS Biol 16, e2005651
2014
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GPietro, Donati A, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Ienco ECaldarazzo, Filosto M, Lamperti C, Catteruccia M, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FMaria, Sauchelli D, Scarpelli M, Sciacco M, Valentino MLucia, Vercelli L, Zeviani M & Siciliano G (2014) The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?. J Neurol 261, 504-10
Diodato D, Melchionda L, Haack TB, Dallabona C, Baruffini E, Donnini C, Granata T, Ragona F, Balestri P, Margollicci M, Lamantea E, Nasca A, Powell CA, Minczuk M, Strom TM, Meitinger T, Prokisch H, Lamperti C, Zeviani M & Ghezzi D (2014) VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. Hum Mutat 35, 983-9
2012
Mayr JA, Haack TB, Graf E, Zimmermann FA, Wieland T, Haberberger B, Superti-Furga A, Kirschner J, Steinmann B, Baumgartner MR, Moroni I, Lamantea E, Zeviani M, Rodenburg RJ, Smeitink J, Strom TM, Meitinger T, Sperl W & Prokisch H (2012) Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am J Hum Genet 90, 314-20
2011
Hudson G, Yu-Wai-Man P, Griffiths PG, Horvath R, Carelli V, Zeviani M & Chinnery PF (2011) Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON. Mitochondrion 11, 620-2
2010
Yu-Wai-Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, Toscano A, Musumeci O, Valentino ML, Caporali L, Lamperti C, Tallaksen CM, Duffey P, Miller J, Whittaker RG, Baker MR, Jackson MJ, Clarke MP, Dhillon B, Czermin B, Stewart JD, Hudson G, Reynier P, Bonneau D, Marques W, Lenaers G, McFarland R, Taylor RW, Turnbull DM, Votruba M, Zeviani M, Carelli V, Bindoff LA, Horvath R, Amati-Bonneau P & Chinnery PF (2010) Multi-system neurological disease is common in patients with OPA1 mutations. Brain 133, 771-86
2008
Elliott HR, Samuels DC, Eden JA, Relton CL & Chinnery PF (2008) Pathogenic mitochondrial DNA mutations are common in the general population. Am J Hum Genet 83, 254-60
Marongiu R, Ferraris A, Ialongo T, Michiorri S, Soleti F, Ferrari F, Elia AE, Ghezzi D, Albanese A, Altavista MConcetta, Antonini A, Barone P, Brusa L, Cortelli P, Martinelli P, Pellecchia MTeresa, Pezzoli G, Scaglione C, Stanzione P, Tinazzi M, Zecchinelli A, Zeviani M, Cassetta E, Garavaglia B, Dallapiccola B, Bentivoglio ARita & Valente EMaria (2008) PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. Hum Mutat 29, 565
2007
Craig K, Ferrari G, Tiangyou W, Hudson G, Gellera C, Zeviani M & Chinnery PF (2007) The A467T and W748S POLG substitutions are a rare cause of adult-onset ataxia in Europe. Brain 130, E69; author reply E70
Fernandez-Vizarra E, Bugiani M, Goffrini P, Carrara F, Farina L, Procopio E, Donati A, Uziel G, Ferrero I & Zeviani M (2007) Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. Hum Mol Genet 16, 1241-52
2006
Longley MJ, Clark S, Man CYu Wai, Hudson G, Durham SE, Taylor RW, Nightingale S, Turnbull DM, Copeland WC & Chinnery PF (2006) Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Am J Hum Genet 78, 1026-34
2005
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
2004
Fontanesi F, Palmieri L, Scarcia P, Lodi T, Donnini C, Limongelli A, Tiranti V, Zeviani M, Ferrero I & Viola AMaria (2004) Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability. Hum Mol Genet 13, 923-34
2002
Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, Papadimitriou A, Spelbrink H, Silvestri L, Casari G, Comi GP & Zeviani M (2002) Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol 52, 211-9
2001
Spelbrink JN, Li FY, Tiranti V, Nikali K, Yuan QP, Tariq M, Wanrooij S, Garrido N, Comi G, Morandi L, Santoro L, Toscano A, Fabrizi GM, Somer H, Croxen R, Beeson D, Poulton J, Suomalainen A, Jacobs HT, Zeviani M & Larsson C (2001) Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet 28, 223-31
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
Gellera C, Castellotti B, Riggio MC, Silani V, Morandi L, Testa D, Casali C, Taroni F, Di Donato S, Zeviani M & Mariotti C (2001) Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations. Neuromuscul Disord 11, 404-10
1996
Pegoraro E, Carelli V, Zeviani M, Cortelli P, Montagna P, Barboni P, Angelini C & Hoffman EP (1996) X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant. Am J Med Genet 61, 356-62