Publications

Found 97 results
Filters: Keyword is Cohort Studies  [Clear All Filters]
2017
Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk MA & Prokisch H (2017) Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. Am J Hum Genet 101, 525-538
Bansagi B, Griffin H, Whittaker RG, Antoniadi T, Evangelista T, Miller J, Greenslade M, Forester N, Duff J, Bradshaw A, Kleinle S, Boczonadi V, Steele H, Ramesh V, Franko E, Pyle A, Lochmüller H, Chinnery PF & Horvath R (2017) Genetic heterogeneity of motor neuropathies. Neurology 88, 1226-1234
Lawson RA, Yarnall AJ, Duncan GW, Breen DP, Khoo TK, Williams-Gray CH, Barker RA & Burn DJ (2017) Stability of mild cognitive impairment in newly diagnosed Parkinson's disease. J Neurol Neurosurg Psychiatry 88, 648-652
2016
Steele HE, Harris E, Barresi R, Marsh J, Beattie A, Bourke JP, Straub V & Chinnery PF (2016) Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study. Neurology 87, 1031-5
Martikainen MH, Ng YShiau, Gorman GS, Alston CL, Blakely EL, Schaefer AM, Chinnery PF, Burn DJ, Taylor RW, McFarland R & Turnbull DM (2016) Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease. JAMA Neurol 73, 668-74
2014
Mancuso M, Orsucci D, Angelini C, Bertini E, Catteruccia M, Pegoraro E, Carelli V, Valentino ML, Comi GP, Minetti C, Bruno C, Moggio M, Ienco ECaldarazzo, Mongini T, Vercelli L, Primiano G, Servidei S, Tonin P, Scarpelli M, Toscano A, Musumeci O, Moroni I, Uziel G, Santorelli FM, Nesti C, Filosto M, Lamperti C, Zeviani M & Siciliano G (2014) Myoclonus in mitochondrial disorders. Mov Disord 29, 722-8
2013
Barboni P, Valentino MLucia, La Morgia C, Carbonelli M, Savini G, De Negri A, Simonelli F, Sadun F, Caporali L, Maresca A, Liguori R, Baruzzi A, Zeviani M & Carelli V (2013) Idebenone treatment in patients with OPA1-mutant dominant optic atrophy. Brain 136, e231
2011
Rogac M, Meznaric M, Zeviani M, Sperl W & Neubauer D (2011) Functional outcome of children with mitochondrial diseases. Pediatr Neurol 44, 340-6
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
2009
Spinazzola A, Invernizzi F, Carrara F, Lamantea E, Donati A, Dirocco M, Giordano I, Meznaric-Petrusa M, Baruffini E, Ferrero I & Zeviani M (2009) Clinical and molecular features of mitochondrial DNA depletion syndromes. J Inherit Metab Dis 32, 143-58
Büchner FL, H Bueno-de-Mesquita B, Ros MM, Kampman E, Egevad L, Overvad K, Raaschou-Nielsen O, Tjønneland A, Roswall N, Clavel-Chapelon F, Boutron-Ruault M-C, Touillaud M, Chang-Claude J, Kaaks R, Boeing H, Weikert S, Trichopoulou A, Lagiou P, Trichopoulos D, Palli D, Sieri S, Vineis P, Tumino R, Panico S, Vrieling A, Peeters PHM, van Gils CH, Lund, iv E, Gram IT, Engeset D, Martinez C, González CA, Larrañaga N, Ardanaz E, Navarro C, Rodriguez L, Manjer J, Ehrnström RA, Hallmans G, Ljungberg B, Allen NE, Roddam AW, Bingham S, Khaw K-T, Slimani N, Boffetta P, Jenab M, Mouw T, Michaud DS, Kiemeney LALM & Riboli E (2009) Consumption of vegetables and fruit and the risk of bladder cancer in the European Prospective Investigation into Cancer and Nutrition. Int J Cancer 125, 2643-51
Moayyeri A, Kaptoge S, Luben RN, Wareham NJ, Bingham S, Reeve J & Khaw KTee (2009) Estimation of absolute fracture risk among middle-aged and older men and women: the EPIC-Norfolk population cohort study. Eur J Epidemiol 24, 259-66
Vrieling A, Verhage BAJ, van Duijnhoven FJB, Jenab M, Overvad K, Tjønneland A, Olsen A, Clavel-Chapelon F, Boutron-Ruault M-C, Kaaks R, Rohrmann S, Boeing H, Nöthlings U, Trichopoulou A, John T, Dimosthenes Z, Palli D, Sieri S, Mattiello A, Tumino R, Vineis P, van Gils CH, Peeters PHM, Engeset D, Lund, iv E, Suárez LRodríguez, Jakszyn P, Larrañaga N, Sánchez M-J, Chirlaque M-D, Ardanaz E, Manjer J, Lindkvist B, Hallmans G, Ye W, Bingham S, Khaw K-T, Roddam A, Key T, Boffetta P, Duell EJ, Michaud DS, Riboli E & H Bueno-de-Mesquita B (2009) Fruit and vegetable consumption and pancreatic cancer risk in the European Prospective Investigation into Cancer and Nutrition. Int J Cancer 124, 1926-34
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
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
McFadden E, Luben R, Wareham N, Bingham S & Khaw K-T (2009) How far can we explain the social class differential in respiratory function? A cross-sectional population study of 21,991 men and women from EPIC-Norfolk. Eur J Epidemiol 24, 193-201
Spencer EA, Key TJ, Appleby PN, van Gils CH, Olsen A, Tjønneland A, Clavel-Chapelon F, Boutron-Ruault M-C, Touillaud M, Sánchez M-J, Bingham S, Khaw KTee, Slimani N, Kaaks R & Riboli E (2009) Prospective study of the association between grapefruit intake and risk of breast cancer in the European Prospective Investigation into Cancer and Nutrition (EPIC). Cancer Causes Control 20, 803-9
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
Willer CJ, Speliotes EK, Loos RJF, Li S, Lindgren CM, Heid IM, Berndt SI, Elliott AL, Jackson AU, Lamina C, Lettre G, Lim N, Lyon HN, McCarroll SA, Papadakis K, Qi L, Randall JC, Roccasecca RMaria, Sanna S, Scheet P, Weedon MN, Wheeler E, Zhao JHua, Jacobs LC, Prokopenko I, Soranzo N, Tanaka T, Timpson NJ, Almgren P, Bennett A, Bergman RN, Bingham SA, Bonnycastle LL, Brown M, Burtt NP, Chines P, Coin L, Collins FS, Connell JM, Cooper C, Smith GDavey, Dennison EM, Deodhar P, Elliott P, Erdos MR, Estrada K, Evans DM, Gianniny L, Gieger C, Gillson CJ, Guiducci C, Hackett R, Hadley D, Hall AS, Havulinna AS, Hebebrand J, Hofman A, Isomaa B, Jacobs KB, Johnson T, Jousilahti P, Jovanovic Z, Khaw K-T, Kraft P, Kuokkanen M, Kuusisto J, Laitinen J, Lakatta EG, Luan J'an, Luben RN, Mangino M, McArdle WL, Meitinger T, Mulas A, Munroe PB, Narisu N, Ness AR, Northstone K, O'Rahilly S, Purmann C, Rees MG, Ridderstrale M, Ring SM, Rivadeneira F, Ruokonen A, Sandhu MS, Saramies J, Scott LJ, Scuteri A, Silander K, Sims MA, Song K, Stephens J, Stevens S, Stringham HM, Tung YCLoraine, Valle TT, Van Duijn CM, Vimaleswaran KS, Vollenweider P, Waeber G, Wallace C, Watanabe RM, Waterworth DM, Watkins N, Witteman JCM, Zeggini E, Zhai G, M Zillikens C, Altshuler D, Caulfield MJ, Chanock SJ, I Farooqi S, Ferrucci L, Guralnik JM, Hattersley AT, Hu FB, Jarvelin M-R, Laakso M, Mooser V, Ong KK, Ouwehand WH, Salomaa V, Samani NJ, Spector TD, Tuomi T, Tuomilehto J, Uda M, Uitterlinden AG, Wareham NJ, Deloukas P, Frayling TM, Groop LC, Hayes RB, Hunter DJ, Mohlke KL, Peltonen L, Schlessinger D, Strachan DP, Wichmann H-E, McCarthy MI, Boehnke M, Barroso I, Abecasis GR & Hirschhorn JN (2009) Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet 41, 25-34
Gallo V, H Bueno-de-Mesquita B, Vermeulen R, Andersen PM, Kyrozis A, Linseisen J, Kaaks R, Allen NE, Roddam AW, Boshuizen HC, Peeters PH, Palli D, Mattiello A, Sieri S, Tumino R, Jiménez-Martín J-M, Díaz MJosé Torm, Suárez LRodríguez, Trichopoulou A, Agudo A, Arriola L, Barricante-Gurrea A, Bingham S, Khaw K-T, Manjer J, Lindkvist B, Overvad K, Bach FW, Tjønneland A, Olsen A, Bergmann MM, Boeing H, Clavel-Chapelon F, Lund, iv E, Hallmans G, Middleton L, Vineis P & Riboli E (2009) Smoking and risk for amyotrophic lateral sclerosis: analysis of the EPIC cohort. Ann Neurol 65, 378-85
McFadden E, Luben R, Wareham N, Bingham S & Khaw K-T (2009) Social class, risk factors, and stroke incidence in men and women: a prospective study in the European prospective investigation into cancer in Norfolk cohort. Stroke 40, 1070-7
2008
Bingham S, Luben R, Welch A, Low YLing, Khaw KTee, Wareham N & Day N (2008) Associations between dietary methods and biomarkers, and between fruits and vegetables and risk of ischaemic heart disease, in the EPIC Norfolk Cohort Study. Int J Epidemiol 37, 978-87
Norat T, Bowman R, Luben R, Welch A, Khaw KTee, Wareham N & Bingham S (2008) Blood pressure and interactions between the angiotensin polymorphism AGT M235T and sodium intake: a cross-sectional population study. Am J Clin Nutr 88, 392-7
Weikert S, Boeing H, Pischon T, Weikert C, Olsen A, Tjonneland A, Overvad K, Becker N, Linseisen J, Trichopoulou A, Mountokalakis T, Trichopoulos D, Sieri S, Palli D, Vineis P, Panico S, Peeters PHM, H Bueno-de-Mesquita B, Verschuren WMMonique, Ljungberg B, Hallmans G, Berglund G, González CA, Dorronsoro M, Barricarte A, Tormo MJ, Allen N, Roddam A, Bingham S, Khaw K-T, Rinaldi S, Ferrari P, Norat T & Riboli E (2008) Blood pressure and risk of renal cell carcinoma in the European prospective investigation into cancer and nutrition. Am J Epidemiol 167, 438-46

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