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
Identification of a Novel LRRK2 Mutation Linked to Autosomal Dominant Parkinsonism: Evidence of a Common Founder across European Populations
Jennifer M. Kachergus,Ignacio F. Mata,Mary M. Hulihan,Julie P. Taylor,Sarah Lincoln,Jan O. Aasly,J. Mark Gibson,Owen A. Ross,Timothy Lynch,Timothy Lynch,Joseph Wiley,Joseph Wiley,Haydeh Payami,John G. Nutt,Demetrius M. Maraganore,Krzysztof Czyzewski,Maria Styczyńska,Zbigniew K. Wszolek,Matthew J. Farrer,Mathias Toft +19 more
TL;DR: It is demonstrated that LRRK2 G2019S accounts for parkinsonism in several families within Europe and North America, highlighting the fact that a proportion of clinically typical, late-onset PD cases have a genetic basis.
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Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease.
Demetrius M. Maraganore,Mariza de Andrade,Alexis Elbaz,Matthew J. Farrer,John P. A. Ioannidis,Rejko Krüger,Walter A. Rocca,Nicole K. Schneider,Timothy G. Lesnick,Sarah Lincoln,Mary M. Hulihan,Jan O. Aasly,Tetsuo Ashizawa,Marie-Christine Chartier-Harlin,Harvey Checkoway,Carlo Ferrarese,Georgios M. Hadjigeorgiou,Nobutaka Hattori,Hideshi Kawakami,Jean-Charles Lambert,Timothy Lynch,George D. Mellick,Spiridon Papapetropoulos,Abbas Parsian,Aldo Quattrone,Olaf Riess,Eng-King Tan,Christine Van Broeckhoven +27 more
TL;DR: This large-scale collaborative analysis demonstrates that SNCA REP1 allele-length variability is associated with an increased risk of Parkinson disease.
Journal ArticleDOI
Mutations in the colony stimulating factor 1 receptor ( CSF1R ) gene cause hereditary diffuse leukoencephalopathy with spheroids
Rosa Rademakers,Matt Baker,Alexandra M. Nicholson,Nicola J. Rutherford,Nicole A. Finch,Alexandra I. Soto-Ortolaza,Jennifer Lash,Christian Wider,Christian Wider,Aleksandra Wojtas,Mariely DeJesus-Hernandez,Jennifer Adamson,Naomi Kouri,Christina Sundal,Christina Sundal,Elizabeth A. Shuster,Jan O. Aasly,James MacKenzie,Sigrun Roeber,Hans A. Kretzschmar,Bradley F. Boeve,David S. Knopman,Ronald C. Petersen,Nigel J. Cairns,Bernardino Ghetti,Salvatore Spina,James Y. Garbern,Alexandros Tselis,Ryan J. Uitti,Pritam Das,Jay A. van Gerpen,James F. Meschia,Shawn Levy,Daniel F. Broderick,Neill R. Graff-Radford,Owen A. Ross,Bradley Miller,Russell H. Swerdlow,Dennis W. Dickson,Zbigniew K. Wszolek +39 more
TL;DR: It is suggested that HDLS may result from partial loss of CSF1R function, and an important role for microglial dysfunction in HDLS pathogenesis is suggested.
Journal ArticleDOI
Cerebrospinal fluid biomarkers for Parkinson disease diagnosis and progression.
Min Shi,Joshua M. Bradner,Aneeka M. Hancock,Kathryn A. Chung,Joseph F. Quinn,Elaine R. Peskind,Douglas Galasko,Joseph Jankovic,Cyrus P. Zabetian,Hojoong M. Kim,James B. Leverenz,Thomas J. Montine,Carmen Ginghina,Un Jung Kang,Kevin C. Cain,Yu Wang,Yu Wang,Jan O. Aasly,David S. Goldstein,Jing Zhang +19 more
TL;DR: It is demonstrated that a decrease in DJ‐1 and/or α‐synuclein in the cerebrospinal fluid is a potential index for Parkinson disease diagnosis, but not for PD severity.
Journal ArticleDOI
The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases
Charalampos Tzoulis,Bernt A. Engelsen,Wenche Telstad,Jan O. Aasly,Massimo Zeviani,Synnøve Winterthun,Gianfrancesco Ferrari,Jan Harald Aarseth,Laurence A. Bindoff +8 more
TL;DR: This study demonstrates the clinical spectrum of a disorder that combines features of Alpers' syndrome and a later onset mitochondrial spinocerebellar ataxia with epilepsy and headache and patients with this disorder are at high risk of death from status epilepticus and from liver failure, if exposed to sodium valproate.