J
Jan O. Aasly
Researcher at Norwegian University of Science and Technology
Publications - 193
Citations - 16161
Jan O. Aasly is an academic researcher from Norwegian University of Science and Technology. The author has contributed to research in topics: Parkinson's disease & LRRK2. The author has an hindex of 53, co-authored 175 publications receiving 14369 citations. Previous affiliations of Jan O. Aasly include University of British Columbia.
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Journal ArticleDOI
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.
Paul Hollingworth,Denise Harold,Rebecca Sims,Amy Gerrish,Jean-Charles Lambert,Jean-Charles Lambert,Jean-Charles Lambert,Minerva M. Carrasquillo,Richard Abraham,Marian L. Hamshere,Jaspreet Singh Pahwa,Valentina Moskvina,Kimberley Dowzell,Nicola Jones,Alexandra Stretton,Charlene Thomas,Alexander Richards,Dobril Ivanov,Caroline S. Widdowson,Jade Chapman,Simon Lovestone,John Powell,Petroula Proitsi,Michelle K. Lupton,Carol Brayne,David C. Rubinsztein,Michael Gill,Brian A. Lawlor,Aoibhinn Lynch,Kristelle Brown,Peter Passmore,David Craig,Bernadette McGuinness,Stephen Todd,Clive Holmes,David M. A. Mann,A. David Smith,Helen Beaumont,Donald Warden,Gordon K. Wilcock,Seth Love,Patrick G. Kehoe,Nigel M. Hooper,Emma R L C Vardy,John Hardy,Simon Mead,Nick C. Fox,Martin N. Rossor,John Collinge,Wolfgang Maier,Frank Jessen,Eckart Rüther,Britta Schürmann,R. Heun,Heike Kölsch,Hendrik van den Bussche,Isabella Heuser,Johannes Kornhuber,Jens Wiltfang,Martin Dichgans,Lutz Frölich,Harald Hampel,John Gallacher,Michael Hüll,Dan Rujescu,Ina Giegling,Alison Goate,John S. K. Kauwe,Carlos Cruchaga,Petra Nowotny,John C. Morris,Kevin Mayo,Kristel Sleegers,Karolien Bettens,Sebastiaan Engelborghs,Peter Paul De Deyn,Christine Van Broeckhoven,Gill Livingston,Nicholas Bass,Hugh Gurling,Andrew McQuillin,Rhian Gwilliam,Panagiotis Deloukas,Ammar Al-Chalabi,Christopher Shaw,Magda Tsolaki,Andrew B. Singleton,Rita Guerreiro,Thomas W. Mühleisen,Markus M. Nöthen,Susanne Moebus,Karl-Heinz Jöckel,Norman Klopp,H.-Erich Wichmann,V. Shane Pankratz,Sigrid Botne 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 L. Lopez,Lenore J. Launer,Sudha Seshadri,Claudine Berr,Dominique Campion,Jacques Epelbaum,Jean-François Dartigues,Christophe Tzourio,Annick Alpérovitch,Mark Lathrop,T. Feulner,Patricia Friedrich,Caterina Riehle,Michael Krawczak,Stefan Schreiber,Manuel Mayhaus,S. Nicolhaus,Stefan Wagenpfeil,Stacy Steinberg,Hreinn Stefansson,Kari Stefansson,Jon Snaedal,Sigurbjorn Bjornsson,Palmi V. Jonsson,Vincent Chouraki,Vincent Chouraki,Vincent Chouraki,Benjamin Genier-Boley,Benjamin Genier-Boley,Benjamin Genier-Boley,Mikko Hiltunen,Hilkka Soininen,Onofre Combarros,Diana Zelenika,Marc Delepine,María J. Bullido,Florence Pasquier,Ignacio Mateo,Ana Frank-García,Elisa Porcellini,Olivier Hanon,Eliecer Coto,Victoria Alvarez,Paolo Bosco,Gabriele Siciliano,Michelangelo Mancuso,Francesco Panza,Vincenzo Solfrizzi,Benedetta Nacmias,Sandro Sorbi,Paola Bossù,Paola Piccardi,Beatrice Arosio,Giorgio Annoni,Davide Seripa,Alberto Pilotto,Elio Scarpini,Daniela Galimberti,Alexis Brice,Didier Hannequin,Federico Licastro,Lesley Jones,Peter Holmans,Thorlakur Jonsson,Matthias Riemenschneider,Kevin Morgan,Steven G. Younkin,Michael John Owen,Michael Conlon O'Donovan,Philippe Amouyel,Julie Williams +177 more
TL;DR: Meta-analyses of all data provided compelling evidence that ABCA7 and the MS4A gene cluster are new Alzheimer's disease susceptibility loci and independent evidence for association for three loci reported by the ADGC, which, when combined, showed genome-wide significance.
Journal ArticleDOI
Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease
Ellen Sidransky,Mike A. Nalls,Jan O. Aasly,Judith Aharon-Peretz,Grazia Annesi,Egberto Reis Barbosa,Anat Bar-Shira,Daniela Berg,Jose Bras,Jose Bras,Alexis Brice,Alexis Brice,Chiung-Mei Chen,Lorraine N. Clark,Christel Condroyer,Elvira Valeria De Marco,Alexandra Durr,Alexandra Durr,Michael J. Eblan,Stanley Fahn,Matthew J. Farrer,Hon-Chung Fung,Ziv Gan-Or,Thomas Gasser,Ruth Gershoni-Baruch,Ruth Gershoni-Baruch,Nir Giladi,Nir Giladi,Alida Griffith,Tanya Gurevich,Tanya Gurevich,Cristina Januário,Peter Kropp,Anthony E. Lang,Guey Jen Lee-Chen,Suzanne Lesage,Karen Marder,Ignacio F. Mata,Anat Mirelman,Jun Mitsui,Ikuko Mizuta,Giuseppe Nicoletti,Giuseppe Nicoletti,Catarina R. Oliveira,Ruth Ottman,Avi Orr-Urtreger,Lygia da Veiga Pereira,Aldo Quattrone,Aldo Quattrone,Ekaterina Rogaeva,Arndt Rolfs,Hanna Rosenbaum,Roberto Rozenberg,Ali Samii,Ali Samii,Ali Samii,Ted Samaddar,Claudia Schulte,Manu Sharma,Manu Sharma,Andrew B. Singleton,Andrew B. Singleton,Mariana Spitz,Mariana Spitz,Eng-King Tan,Eng-King Tan,Nahid Tayebi,Tatsushi Toda,André R. Troiano,Shoji Tsuji,Matthias Wittstock,Tyra G. Wolfsberg,Yih-Ru Wu,Cyrus P. Zabetian,Yi Zhao,Shira G. Ziegler +75 more
TL;DR: Data collected demonstrate that there is a strong association between GBA mutations and Parkinson's disease, and those with a GBA mutation presented earlier with the disease, were more likely to have affected relatives, and were morelikely to have atypical clinical manifestations.
Journal ArticleDOI
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
Daniel G. Healy,Mario Falchi,Sean S. O'Sullivan,Vincenzo Bonifati,Alexandra Durr,Susan B. Bressman,Alexis Brice,Jan O. Aasly,Cyrus P. Zabetian,Stefano Goldwurm,Joaquim J. Ferreira,Eduardo Tolosa,Denise M. Kay,Christine Klein,David R. Williams,Connie Marras,Anthony E. Lang,Zbigniew K. Wszolek,José Berciano,Anthony H.V. Schapira,Timothy Lynch,Kailash P. Bhatia,Thomas Gasser,Andrew J. Lees,Andrew J. Lees,Nicholas W. Wood +25 more
TL;DR: Mutations in LRRK2 are a clinically relevant cause of PD that merit testing in patients with hereditary PD and in subgroups of patients with PD, but this knowledge should be applied with caution in the diagnosis and counselling of patients.
Journal ArticleDOI
VPS35 Mutations in Parkinson Disease
Carles Vilariño-Güell,Christian Wider,Owen A. Ross,Justus C. Dachsel,Jennifer M. Kachergus,Sarah Lincoln,Alexandra I. Soto-Ortolaza,Stephanie A. Cobb,Greggory J. Wilhoite,Justin A. Bacon,Behrouz Bahareh Behrouz,Heather L. Melrose,Emna Hentati,Andreas Puschmann,Andreas Puschmann,Daniel M. Evans,Elizabeth Conibear,Wyeth W. Wasserman,Jan O. Aasly,Pierre R. Burkhard,Ruth Djaldetti,Joseph Ghika,Fayçal Hentati,Anna Krygowska-Wajs,Timothy Lynch,Timothy Lynch,Eldad Melamed,Alex Rajput,Ali H. Rajput,Alessandra Solida,Ruey-Meei Wu,Ryan J. Uitti,Zbigniew K. Wszolek,François Vingerhoets,Matthew J. Farrer,Matthew J. Farrer +35 more
TL;DR: This study implicates disruption of VPS35 and retromer-mediated trans-membrane protein sorting, rescue, and recycling in the neurodegenerative process leading to PD.
Journal ArticleDOI
Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease
Silke Appel-Cresswell,Carles Vilariño-Güell,Mary Encarnacion,Holly E. Sherman,Irene Yu,Brinda Shah,David W Weir,Christina Thompson,Chelsea Szu-Tu,Joanne Trinh,Jan O. Aasly,Alex Rajput,Ali H. Rajput,A. Jon Stoessl,Matthew J. Farrer +14 more
TL;DR: Three missense mutations in SNCA, the gene encoding alpha‐synuclein, as well as genomic multiplications have been identified as causes for autosomal‐dominantly inherited Parkinsonism.