// +author:j aasly +author:aasly var _ajax_res = { hits: 5, first: 0, results: [ {userid:"mmckeown", "refid":"177","repocollections":"","attachment":"","_thumb":"","articletype":"article","sectionheading":"","title":"Genetic variability of the retromer cargo recognition complex in parkinsonism.","year":"2015","author":"Emil K Gustavsson, Ilaria Guella, Joanne Trinh, Chelsea Szu-Tu, Alex Rajput, Ali H Rajput, John C Steele, Martin McKeown, Beom S Jeon, Jan O Aasly, Matthew J Farrer","journal":"Movement Disorders ","volume":"30","number":"4","pages":"580-584","month":"Apr","doi":"10.1002\/mds.26104","pubmed":"25475142","pdflink":"","urllink":"","abstract":"A pathogenic mutation (VPS35 p.D620N) within the retromer complex has been shown to segregate with late-onset Parkinson's disease (PD). Several studies have subsequently detected the mutation in patients with PD and not in controls.","note":"","tags":"Adult,Aged,Aged, 80 and over,DNA Mutational Analysis,Female,Genetic Predisposition to Disease,Genetic Variation,Humans,International Cooperation,Male,Middle Aged,Parkinsonian Disorders,Vesicular Transport Proteins,Young Adult","weight":177,"publisher":"","booktitle":"","editor":"","address":"","school":"","issn":"1531-8257","isi":"","key":"Gustavsson2015","howpublished":""} , {userid:"mmckeown", "refid":"178","repocollections":"","attachment":"","_thumb":"","articletype":"article","sectionheading":"","title":"DNAJC13 genetic variants in parkinsonism.","year":"2015","author":"Emil K Gustavsson, Joanne Trinh, Ilaria Guella, Carles Vilari\u00f1o-G\u00fcell, Silke Appel-Cresswell, A Jon Stoessl, Joseph K Tsui, Martin McKeown, Alex Rajput, Ali H Rajput, Jan O Aasly, Matthew J Farrer","journal":"Movement Disorders","volume":"30","number":"2","pages":"273-278","month":"Feb","doi":"10.1002\/mds.26064","pubmed":"25393719","pdflink":"","urllink":"","abstract":"A novel mutation (p.N855S) in DNAJC13 has been linked to familial, late-onset Lewy body parkinsonism in a Dutch-German-Russian Mennonite multi-incident kindred.","note":"","tags":"Age of Onset,Female,Gene Frequency,Genetic Predisposition to Disease,Genotype,Humans,Male,Molecular Chaperones,Mutation, Missense,Parkinson Disease,Parkinsonian Disorders","weight":178,"publisher":"","booktitle":"","editor":"","address":"","school":"","issn":"1531-8257","isi":"","key":"Gustavsson2015","howpublished":""} , {userid:"mmckeown", "refid":"188","repocollections":"","attachment":"","_thumb":"","articletype":"article","sectionheading":"","title":"\u03b1-synuclein genetic variability: a biomarker for dementia in Parkinson\u2019s disease","year":"2016","author":"I Guella, D Evans, C Szu-Tu, E Nosova, S Bortnick, S Appel-Cresswell, J Tsui, MJ McKeown, AJ Stoessl, J Aasly, A Rajput, A Rajput, J Goldman, J Dalrymple-Alford, J Hoogland, R deBie, G Geurtsen, I Litvan, A Soto-Ortolaza, O Ross, D Dickson, T Ferman, Z Wszolek, B Boeve, L Middleton, H Haytural, L Parkkinen, M Farrer","journal":"Annals of Neurology","volume":"79","number":"6","pages":"991-999","month":"","doi":"27091628","pubmed":"10.1002\/ana.24664","pdflink":"","urllink":"","abstract":"","note":"","tags":"","weight":188} , {userid:"mmckeown", "refid":"203","repocollections":"","attachment":"","_thumb":"","articletype":"article","sectionheading":"","title":"The effect of LRRK2 mutations on the cholinergic system in manifest and premanifest stages of Parkinson's disease: a cross-sectional PET study","year":"2018","author":"Shu-Ying Liu, D J Wile, Jessie Fu, Jason Valerio, Elham Shahinfard, Siobhan McCormick, Rostom Mabrouk, Nasim Vafai, Jess McKenzie, Nicole Neilson, Alexandra Perez-Soriano, Julieta E. Arena, Mariya Cherkasova, Piu Chan, Jing Zhang, Cyrus P. Zabetian, Jan Aasly, Zbigniew K. Wszolek, Martin J. McKeown, Michael J. Adam, Thomas J. Ruth, Michael Schulzer, Vesna Sossi, A. Jon Stoessl","journal":"Lancet Neurology","volume":"17","number":"4","pages":"309-316","month":"Apr","doi":"10.1016\/S1474-4422(18)30032-2","pubmed":"29456161","pdflink":"","urllink":"","abstract":"","note":"","tags":"","weight":203} , {userid:"n.fox", "articletype":"article","pages":"429-435","author":"Paul Hollingworth, Denise Harold, Rebecca Sims, Amy Gerrish, Jean-Charles Lambert, Minerva M Carrasquillo, Richard Abraham, Marian L Hamshere, Jaspreet Singh Pahwa, Valentina Moskvina, Kimberley Dowzell, Nicola Jones, Alexandra Stretton, Charlene Thomas, Alex Richards, Dobril Ivanov, Caroline Widdowson, Jade Chapman, Simon Lovestone, John Powell, Petroula Proitsi, Michelle K Lupton, Carol Brayne, David C Rubinsztein, Michael Gill, Brian Lawlor, Aoibhinn Lynch, Kristelle S Brown, Peter A Passmore, David Craig, Bernadette McGuinness, Stephen Todd, Clive Holmes, David Mann, A David Smith, Helen Beaumont, Donald Warden, Gordon Wilcock, Seth Love, Patrick G Kehoe, Nigel M Hooper, Emma R L C Vardy, John Hardy, Simon Mead, Nick C Fox, Martin Rossor, John Collinge, Wolfgang Maier, Frank Jessen, Eckart R\u00fcther, Britta Sch\u00fcrmann, Reiner Heun, Heike K\u00f6lsch, Hendrik van den Bussche, Isabella Heuser, Johannes Kornhuber, Jens Wiltfang, Martin Dichgans, Lutz Fr\u00f6lich, Harald Hampel, John Gallacher, Michael H\u00fcll, Dan Rujescu, Ina Giegling, Alison M Goate, John S K Kauwe, Carlos Cruchaga, Petra Nowotny, John C Morris, Kevin Mayo, Kristel Sleegers, Karolien Bettens, Sebastiaan Engelborghs, Peter P De Deyn, Christine Van Broeckhoven, Gill Livingston, Nicholas J Bass, Hugh Gurling, Andrew McQuillin, Rhian Gwilliam, Panagiotis Deloukas, Ammar Al-Chalabi, Christopher E Shaw, Magda Tsolaki, Andrew B Singleton, Rita Guerreiro, Thomas W M\u00fchleisen, Markus M N\u00f6then, Susanne Moebus, Karl-Heinz J\u00f6ckel, Norman Klopp, H-Erich Wichmann, V Shane Pankratz, Sigrid B Sando, Jan O Aasly, Maria Barcikowska, Zbigniew K Wszolek, Dennis W Dickson, Neill R Graff-Radford, Ronald C Petersen, Cornelia M van Duijn, Monique M B Breteler, M Arfan Ikram, Anita L DeStefano, Annette L Fitzpatrick, Oscar Lopez, Lenore J Launer, Sudha Seshadri, Claudine Berr, Dominique Campion, Jacques Epelbaum, Jean-Fran\u00e7ois Dartigues, Christophe Tzourio, Annick Alp\u00e9rovitch, Mark Lathrop, Thomas M Feulner, Patricia Friedrich, Caterina Riehle, Michael Krawczak, Stefan Schreiber, Manuel Mayhaus, S Nicolhaus, Stefan Wagenpfeil, Stacy Steinberg, Hreinn Stefansson, Kari Stefansson, Jon Snaedal, Sigurbj\u00f6rn Bj\u00f6rnsson, Palmi V Jonsson, Vincent Chouraki, Benjamin Genier-Boley, Mikko Hiltunen, Hilkka Soininen, Onofre Combarros, Diana Zelenika, Marc Delepine, Maria J Bullido, Florence Pasquier, Ignacio Mateo, Ana Frank-Garcia, Elisa Porcellini, Olivier Hanon, Eliecer Coto, Victoria Alvarez, Paolo Bosco, Gabriele Siciliano, Michelangelo Mancuso, Francesco Panza, Vincenzo Solfrizzi, Benedetta Nacmias, Sandro Sorbi, Paola Boss\u00f9, Paola Piccardi, Beatrice Arosio, Giorgio Annoni, Davide Seripa, Alberto Pilotto, Elio Scarpini, Daniela Galimberti, Alexis Brice, Didier Hannequin, Federico Licastro, Lesley Jones, Peter A Holmans, Thorlakur Jonsson, Matthias Riemenschneider, Kevin Morgan, Steven G Younkin, Michael J Owen, Michael O'Donovan, Philippe Amouyel, Julie Williams","year":"2011","title":"Common variants at ABCA7, MS4A6A\/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.","month":"May","journal":"Nat Genet","publisher":"","volume":"43","number":"5","note":"","tags":"ATP-Binding Cassette Transporters,Adaptor Proteins, Signal Transducing,Aged,Aged, 80 and over,Alzheimer Disease,Antigens, CD,Antigens, Differentiation, Myelomonocytic,Case-Control Studies,Cytoskeletal Proteins,Databases, Genetic,Female,Genetic Predisposition to Disease,Genetic Variation,Genome-Wide Association Study,Humans,Male,Membrane Proteins,Multigene Family,Polymorphism, Single Nucleotide,Receptor, EphA1","booktitle":"","editor":"","abstract":"We sought to identify new susceptibility loci for Alzheimer's disease through a staged association study (GERAD+) and by testing suggestive loci reported by the Alzheimer's Disease Genetic Consortium (ADGC) in a companion paper. We undertook a combined analysis of four genome-wide association datasets (stage 1) and identified ten newly associated variants with P \u2264 1 \u00d7 10(-5). We tested these variants for association in an independent sample (stage 2). Three SNPs at two loci replicated and showed evidence for association in a further sample (stage 3). Meta-analyses of all data provided compelling evidence that ABCA7 (rs3764650, meta P = 4.5 \u00d7 10(-17); including ADGC data, meta P = 5.0 \u00d7 10(-21)) and the MS4A gene cluster (rs610932, meta P = 1.8 \u00d7 10(-14); including ADGC data, meta P = 1.2 \u00d7 10(-16)) are new Alzheimer's disease susceptibility loci. We also found independent evidence for association for three loci reported by the ADGC, which, when combined, showed genome-wide significance: CD2AP (GERAD+, P = 8.0 \u00d7 10(-4); including ADGC data, meta P = 8.6 \u00d7 10(-9)), CD33 (GERAD+, P = 2.2 \u00d7 10(-4); including ADGC data, meta P = 1.6 \u00d7 10(-9)) and EPHA1 (GERAD+, P = 3.4 \u00d7 10(-4); including ADGC data, meta P = 6.0 \u00d7 10(-10)).","address":"","school":"","issn":"1546-1718","doi":"10.1038\/ng.803","isi":"","pubmed":"21460840","key":"Hollingworth2011","howpublished":"","urllink":"","refid":246} ] } ; ajaxResultsLoaded(_ajax_res);