Publications

Found 63 results
Filters: Keyword is Phenotype  [Clear All Filters]
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
Dallabona C, Marsano RMassimilia, Arzuffi P, Ghezzi D, Mancini P, Zeviani M, Ferrero I & Donnini C (2010) Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator. Hum Mol Genet 19, 1098-107
2009
Fernandez-Ayala DJM, Sanz A, Vartiainen S, Kemppainen KK, Babusiak M, Mustalahti E, Costa R, Tuomela T, Zeviani M, Chung J, O'Dell KMC, Rustin P & Jacobs HT (2009) Expression of the Ciona intestinalis alternative oxidase (AOX) in Drosophila complements defects in mitochondrial oxidative phosphorylation. Cell Metab 9, 449-60
Hudson G, Yu-Wai-Man P, Zeviani M & Chinnery PF (2009) Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy. Mol Vis 15, 870-5
Orthmann-Murphy JL, Salsano E, Abrams CK, Bizzi A, Uziel G, Freidin MM, Lamantea E, Zeviani M, Scherer SS & Pareyson D (2009) Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. Brain 132, 426-38
2008
Chinnery PF & Zeviani M (2008) 155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands. Neuromuscul Disord 18, 259-67
Ashley N, O'Rourke A, Smith C, Adams S, Gowda V, Zeviani M, Brown GK, Fratter C & Poulton J (2008) Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. Hum Mol Genet 17, 2496-506
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
Okuyaz C, Ezgü FSüheyl, Biberoglu G, Zeviani M, Tiranti V & Yilgör E (2008) Severe infantile hypotonia with ethylmalonic aciduria: case report. J Child Neurol 23, 703-5
Murphy MP & Partridge L (2008) Toward a control theory analysis of aging. Annu Rev Biochem 77, 777-98
2007
Dell'agnello C, Leo S, Agostino A, Szabadkai G, Tiveron C, Zulian A, Prelle A, Roubertoux P, Rizzuto R & Zeviani M (2007) Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice. Hum Mol Genet 16, 431-44
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
2006
Marongiu R, Ghezzi D, Ialongo T, Soleti F, Elia A, Cavone S, Albanese A, Altavista MConcetta, Barone P, Brusa L, Cortelli P, Petrozzi L, Scaglione C, Stanzione P, Tinazzi M, Zeviani M, Dallapiccola B, Bentivoglio ARita, Valente EMaria & Garavaglia B (2006) Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease. Mov Disord 21, 1232-5
Baruffini E, Lodi T, Dallabona C, Puglisi A, Zeviani M & Ferrero I (2006) Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans. Hum Mol Genet 15, 2846-55
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
Stella C, Beckwith-Hall B, Cloarec O, Holmes E, Lindon JC, Powell J, van der Ouderaa F, Bingham S, Cross AJ & Nicholson JK (2006) Susceptibility of human metabolic phenotypes to dietary modulation. J Proteome Res 5, 2780-8
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
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
Kujoth GC, Hiona A, Pugh TD, Someya S, Panzer K, Wohlgemuth SE, Hofer T, Seo AY, Sullivan R, Jobling WA, Morrow JD, Van Remmen H, Sedivy JM, Yamasoba T, Tanokura M, Weindruch R, Leeuwenburgh C & Prolla TA (2005) Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging. Science 309, 481-4
Bustos DM & Velours J (2005) The modification of the conserved GXXXG motif of the membrane-spanning segment of subunit g destabilizes the supramolecular species of yeast ATP synthase. J Biol Chem 280, 29004-10
2004
Trifunovic A, Wredenberg A, Falkenberg M, Spelbrink JN, Rovio AT, Bruder CE, Bohlooly-Y M, Gidlöf S, Oldfors A, Wibom R, Törnell J, Jacobs HT & Larsson N-G (2004) Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature 429, 417-23
2003
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
Yu-Wai-Man P, Morris CM, Zeviani M, Carrara F, Turnbull DM & Chinnery PF (2003) The role of APOE in the phenotypic expression of Leber hereditary optic neuropathy. J Med Genet 40, e41
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
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

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