Publications

Found 13 results
Filters: Keyword is Exons  [Clear All Filters]
2017
Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A & Schüle R (2017) Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain 140, 1561-1578
2014
Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong L-J, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, Ounap K, Schiffmann R, Salsano E, Savoiardo M, Hamilton EM, Abbink TEM, Wolf NI, Ferrero I, Lamperti C, Zeviani M, Vanderver A, Ghezzi D & van der Knaap MS (2014) Novel (ovario) leukodystrophy related to AARS2 mutations. Neurology 82, 2063-71
2012
Rinaldi C, Grunseich C, Sevrioukova IF, Schindler A, Horkayne-Szakaly I, Lamperti C, Landouré G, Kennerson ML, Burnett BG, Bönnemann C, Biesecker LG, Ghezzi D, Zeviani M & Fischbeck KH (2012) Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. Am J Hum Genet 91, 1095-102
2010
Haack TB, Danhauser K, Haberberger B, Hoser J, Strecker V, Boehm D, Uziel G, Lamantea E, Invernizzi F, Poulton J, Rolinski B, Iuso A, Biskup S, Schmidt T, Mewes H-W, Wittig I, Meitinger T, Zeviani M & Prokisch H (2010) Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat Genet 42, 1131-4
2009
Canzian F, Kaaks R, Cox DG, Henderson KD, Henderson BE, Berg C, Bingham S, Boeing H, Buring J, Calle EE, Chanock S, Clavel-Chapelon F, Dossus L, Feigelson HSpencer, Haiman CA, Hankinson SE, Hoover R, Hunter DJ, Isaacs C, Lenner P, Lund, iv E, Overvad K, Palli D, Pearce CLeigh, Quirós JR, Riboli E, Stram DO, Thomas G, Thun MJ, Trichopoulos D, van Gils CH & Ziegler RG (2009) Genetic polymorphisms of the GNRH1 and GNRHR genes and risk of breast cancer in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3). BMC Cancer 9, 257
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
2006
Tiangyou W, Hudson G, Ghezzi D, Ferrari G, Zeviani M, Burn DJ & Chinnery PF (2006) POLG1 in idiopathic Parkinson disease. Neurology 67, 1698-700
2003
Meirhaeghe A, Crowley V, Lenaghan C, Lelliott C, Green K, Stewart A, Hart K, Schinner S, Sethi JK, Yeo G, Brand MD, Cortright RN, O'Rahilly S, Montague C & Vidal-Puig AJ (2003) Characterization of the human, mouse and rat PGC1 beta (peroxisome-proliferator-activated receptor-gamma co-activator 1 beta) gene in vitro and in vivo. Biochem J 373, 155-65
2002
Dobson-Stone C, Danek A, Rampoldi L, Hardie RJ, Chalmers RM, Wood NW, Bohlega S, Dotti MT, Federico A, Shizuka M, Tanaka M, Watanabe M, Ikeda Y, Brin M, Goldfarb LG, Karp BI, Mohiddin S, Fananapazir L, Storch A, Fryer AE, Maddison P, Sibon I, Trevisol-Bittencourt PC, Singer C, Caballero IR, Aasly JO, Schmierer K, Dengler R, Hiersemenzel L-P, Zeviani M, Meiner V, Lossos A, Johnson S, Mercado FC, Sorrentino G, Dupré N, Rouleau GA, Volkmann J, Arpa J, Lees A, Geraud G, Chouinard S, Németh A & Monaco AP (2002) Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet 10, 773-81
Mitrou P, Watson M, Bingham S, Stebbings WS, Speakman CT & Loktionov A (2002) NQO1 and mEH exon 4 (mEH4) gene polymorphisms, smoking and colorectal cancer risk. IARC Sci Publ 156, 495-7
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
1998
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
1995
Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P & Zeviani M (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80, 155-65