Publications

Found 22 results
Filters: Keyword is Gene Frequency  [Clear All Filters]
2012
Pelayo-Negro AL, Sánchez-Quintana C, Rodríguez-Oroz MC, Volpini V, Zeviani M, Tola-Arribas MA, Berciano J & Infante J (2012) Screening for POLG W748S and A467T mutations in ataxia patients from Spain. Mov Disord 27, 1326
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
Hudson G, Yu-Wai-Man P, Griffiths PG, Caporali L, Salomao SS, Berezovsky A, Carelli V, Zeviani M & Chinnery PF (2010) Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy. Mol Vis 16, 2760-4
2009
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
Amundadottir L, Kraft P, Stolzenberg-Solomon RZ, Fuchs CS, Petersen GM, Arslan AA, H Bueno-de-Mesquita B, Gross M, Helzlsouer K, Jacobs EJ, LaCroix A, Zheng W, Albanes D, Bamlet W, Berg CD, Berrino F, Bingham S, Buring JE, Bracci PM, Canzian F, Clavel-Chapelon F, Clipp S, Cotterchio M, de Andrade M, Duell EJ, Fox JW, Gallinger S, J Gaziano M, Giovannucci EL, Goggins M, González CA, Hallmans G, Hankinson SE, Hassan M, Holly EA, Hunter DJ, Hutchinson A, Jackson R, Jacobs KB, Jenab M, Kaaks R, Klein AP, Kooperberg C, Kurtz RC, Li D, Lynch SM, Mandelson M, McWilliams RR, Mendelsohn JB, Michaud DS, Olson SH, Overvad K, Patel AV, Peeters PHM, Rajkovic A, Riboli E, Risch HA, Shu X-O, Thomas G, Tobias GS, Trichopoulos D, Van Den Eeden SK, Virtamo J, Wactawski-Wende J, Wolpin BM, Yu H, Yu K, Zeleniuch-Jacquotte A, Chanock SJ, Hartge P & Hoover RN (2009) Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer. Nat Genet 41, 986-90
Elstner M, Morris CM, Heim K, Lichtner P, Bender A, Mehta D, Schulte C, Sharma M, Hudson G, Goldwurm S, Giovanetti A, Zeviani M, Burn DJ, McKeith IG, Perry RH, Jaros E, Krüger R, Wichmann H-E, Schreiber S, Campbell H, Wilson JF, Wright AF, Dunlop M, Pistis G, Toniolo D, Chinnery PF, Gasser T, Klopstock T, Meitinger T, Prokisch H & Turnbull DM (2009) Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene. Ann Neurol 66, 792-8
2008
Capellá G, Pera G, Sala N, Agudo A, Rico F, Del Giudicce G, Plebani M, Palli D, Boeing H, H Bueno-de-Mesquita B, Carneiro F, Berrino F, Vineis P, Tumino R, Panico S, Berglund G, Simán H, Nyrén O, Hallmans G, Martinez C, Dorronsoro M, Barricarte A, Navarro C, Quirós JR, Allen N, Key T, Bingham S, Caldas C, Linseisen J, Nagel G, Overvad K, Tjonneland A, Boshuizen HC, Peeters PHM, Numans ME, Clavel-Chapelon F, Trichopoulou A, Lund, iv E, Jenab M, Kaaks R, Riboli E & González CA (2008) DNA repair polymorphisms and the risk of stomach adenocarcinoma and severe chronic gastritis in the EPIC-EURGAST study. Int J Epidemiol 37, 1316-25
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
Cree LM, Samuels DC, Lopes SChuva de S, Rajasimha HKarur, Wonnapinij P, Mann JR, Dahl H-HM & Chinnery PF (2008) A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes. Nat Genet 40, 249-54
2007
Hudson G, Carelli V, Spruijt L, Gerards M, Mowbray C, Achilli A, Pyle A, Elson J, Howell N, La Morgia C, Valentino MLucia, Huoponen K, Savontaus M-L, Nikoskelainen E, Sadun AA, Salomao SR, Belfort R, Griffiths P, Yu-Wai-Man P, de Coo RFM, Horvath R, Zeviani M, Smeets HJT, Torroni A & Chinnery PF (2007) Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am J Hum Genet 81, 228-33
Hudson G, Carelli V, Horvath R, Zeviani M, Smeets HJ & Chinnery PF (2007) X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy. Mol Vis 13, 2339-43
2006
Vaessen SFC, Schaap FG, Kuivenhoven J-A, Groen AK, Hutten BA, S Boekholdt M, Hattori H, Sandhu MS, Bingham SA, Luben R, Palmen JA, Wareham NJ, Humphries SE, Kastelein JJP, Talmud PJ & Khaw K-T (2006) Apolipoprotein A-V, triglycerides and risk of coronary artery disease: the prospective Epic-Norfolk Population Study. J Lipid Res 47, 2064-70
Tremelling M, Hancock L, Bredin F, Sharpstone D, Bingham SA & Parkes M (2006) Complex insertion/deletion polymorphism in NOD1 (CARD4) is not associated with inflammatory bowel disease susceptibility in East Anglia panel. Inflamm Bowel Dis 12, 967-71
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
Mitrou PN, Watson MA, Loktionov AS, Cardwell C, Gunter MJ, Atkin WS, Macklin CP, Cecil T, Bishop TD, Primrose J & Bingham SA (2006) MTHFR (C677T and A1298C) polymorphisms and risk of sporadic distal colorectal adenoma in the UK Flexible Sigmoidoscopy Screening Trial (United Kingdom). Cancer Causes Control 17, 793-801
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
Tiangyou W, Hudson G, Ghezzi D, Ferrari G, Zeviani M, Burn DJ & Chinnery PF (2006) POLG1 in idiopathic Parkinson disease. Neurology 67, 1698-700
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
2002
Zorzi G, Garavaglia B, Invernizzi F, Girotti F, Soliveri P, Zeviani M, Angelini L & Nardocci N (2002) Frequency of DYT1 mutation in early onset primary dystonia in Italian patients. Mov Disord 17, 407-8
2001
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
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
1997
Torroni A, Petrozzi M, D'Urbano L, Sellitto D, Zeviani M, Carrara F, Carducci C, Leuzzi V, Carelli V, Barboni P, De Negri A & Scozzari R (1997) Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet 60, 1107-21