Publications by authors named "Jan O Aasly"

97Publications

Metabolic Profiling of CSF from People Suffering from Sporadic and LRRK2 Parkinson's Disease: A Pilot Study.

Cells 2020 10 31;9(11). Epub 2020 Oct 31.

Metabolomics Department, Beaumont Research Institute, Beaumont Health, Royal Oak, MI 48073, USA.

View Article and Find Full Text PDF
October 2020

Mitochondrial Mechanisms of LRRK2 G2019S Penetrance.

Front Neurol 2020 25;11:881. Epub 2020 Aug 25.

Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.

View Article and Find Full Text PDF
August 2020

Neuropathological findings in PINK1-associated Parkinson's disease.

Parkinsonism Relat Disord 2020 09 9;78:105-108. Epub 2020 Aug 9.

Department of Neurology, St. Olavs University Hospital, Trondheim, Norway; Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway.

View Article and Find Full Text PDF
September 2020

Long-Term Outcomes of Genetic Parkinson's Disease.

Authors:
Jan O Aasly

J Mov Disord 2020 May 29;13(2):81-96. Epub 2020 May 29.

Department of Neurology, St. Olav's Hospital, Trondheim, Norway.

View Article and Find Full Text PDF
May 2020

Clinical and Imaging Markers of Prodromal Parkinson's Disease.

Front Neurol 2020 8;11:395. Epub 2020 May 8.

Department of Neurology, St. Olavs Hospital, Trondheim, Norway.

View Article and Find Full Text PDF
May 2020

CSF total and oligomeric α-Synuclein along with TNF-α as risk biomarkers for Parkinson's disease: a study in LRRK2 mutation carriers.

Transl Neurodegener 2020 05 6;9(1):15. Epub 2020 May 6.

Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Qatar Foundation, P.O. Box 5825, Doha, Qatar.

View Article and Find Full Text PDF
May 2020

Family with primary periodic paralysis and a mutation in MCM3AP, a gene implicated in mRNA transport.

Muscle Nerve 2019 09 7;60(3):311-314. Epub 2019 Jul 7.

Department of Neurology, St. Olav's Hospital, Trondheim, Norway.

View Article and Find Full Text PDF
September 2019

Mitochondrial DNA Deletions Discriminate Affected from Unaffected LRRK2 Mutation Carriers.

Ann Neurol 2019 08 12;86(2):324-326. Epub 2019 Jun 12.

Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.

View Article and Find Full Text PDF
August 2019

A Case of Parkinson's Disease with No Lewy Body Pathology due to a Homozygous Exon Deletion in .

Case Rep Neurol Med 2018 28;2018:6838965. Epub 2018 Jun 28.

Department of Neurology, St. Olavs University Hospital, Trondheim, Norway.

View Article and Find Full Text PDF
June 2018

The accuracy of the clinical diagnosis of Parkinson disease. The HUNT study.

J Neurol 2018 Sep 10;265(9):2120-2124. Epub 2018 Jul 10.

Department of Neuromedicine and Movement Science (INB), Norwegian University of Science and Technology (NTNU), Trondheim, Norway.

View Article and Find Full Text PDF
September 2018

Cerebrospinal Fluid Concentration of Key Autophagy Protein Lamp2 Changes Little During Normal Aging.

Front Aging Neurosci 2018 8;10:130. Epub 2018 May 8.

Department of Neurology, St. Olav's Hospital, Trondheim, Norway.

View Article and Find Full Text PDF
May 2018

Exploring cancer in mutation carriers and idiopathic Parkinson's disease.

Brain Behav 2018 01 7;8(1):e00858. Epub 2017 Dec 7.

Department of Neuroscience Norwegian University of Science and Technology Trondheim Norway.

View Article and Find Full Text PDF
January 2018

CSF lamp2 concentrations are decreased in female Parkinson's disease patients with LRRK2 mutations.

Brain Res 2018 03 3;1683:12-16. Epub 2018 Feb 3.

Department of Neurology, Beaumont Health Research Institute, Royal Oak, MI, USA. Electronic address:

View Article and Find Full Text PDF
March 2018

Alterations in the reduced pteridine contents in the cerebrospinal fluids of LRRK2 mutation carriers and patients with Parkinson's disease.

J Neural Transm (Vienna) 2018 01 1;125(1):45-52. Epub 2017 Sep 1.

Department of Neurology, St. Olavs Hospital, Norwegian University of Science and Technology (NTNU), 7030, Trondheim, Norway.

View Article and Find Full Text PDF
January 2018

Challenges presented by Munchausen syndrome.

Tidsskr Nor Laegeforen 2017 May 23;137(10):696-697. Epub 2017 May 23.

View Article and Find Full Text PDF
May 2017

Genetic Identification in Early Onset Parkinsonism among Norwegian Patients.

Mov Disord Clin Pract 2017 Jul-Aug;4(4):499-508. Epub 2017 May 23.

Department of Neuroscience Norwegian University of Science and Technology Trondheim Norway.

View Article and Find Full Text PDF
May 2017

Age-Related Decrease in Heat Shock 70-kDa Protein 8 in Cerebrospinal Fluid Is Associated with Increased Oxidative Stress.

Front Aging Neurosci 2016 26;8:178. Epub 2016 Jul 26.

Department of Neurology, Henry Ford West Bloomfield Hospital, West Bloomfield TownshipMI, USA; Department of Neurology, Wayne State University School of Medicine, DetroitMI, USA.

View Article and Find Full Text PDF
August 2016

DCTN1 p.K56R in progressive supranuclear palsy.

Parkinsonism Relat Disord 2016 07 23;28:56-61. Epub 2016 Apr 23.

Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada. Electronic address:

View Article and Find Full Text PDF
July 2016

CSF Nrf2 and HSPA8 in Parkinson's disease patients with and without LRRK2 gene mutations.

J Neural Transm (Vienna) 2016 Mar 3;123(3):179-87. Epub 2015 Nov 3.

Department of Neurology, Henry Ford West Bloomfield Hospital, West Bloomfield, MI, USA.

View Article and Find Full Text PDF
March 2016

Changes to Intermediary Metabolites in Sporadic and LRRK2 Parkinson's Disease Demonstrated by Proton Magnetic Resonance Spectroscopy.

Parkinsons Dis 2015 18;2015:264896. Epub 2015 Aug 18.

Department of Neuroscience, Faculty of Medicine, Norwegian University of Science and Technology (NTNU), 7491 Trondheim, Norway ; Department of Neurology, St. Olav's Hospital, University Hospital of Trondheim, 7006 Trondheim, Norway.

View Article and Find Full Text PDF
September 2015

Novel LRRK2 mutations in Parkinsonism.

Parkinsonism Relat Disord 2015 Sep 18;21(9):1119-21. Epub 2015 Jul 18.

Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia, Vancouver, BC, Canada.

View Article and Find Full Text PDF
September 2015

Genetic variability of the retromer cargo recognition complex in parkinsonism.

Mov Disord 2015 Apr 5;30(4):580-4. Epub 2014 Dec 5.

Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology, St. Olav's Hospital, Trondheim, Norway.

View Article and Find Full Text PDF
April 2015

DNAJC13 genetic variants in parkinsonism.

Mov Disord 2015 Feb 12;30(2):273-8. Epub 2014 Nov 12.

Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology, St. Olav's Hospital, Trondheim, Norway.

View Article and Find Full Text PDF
February 2015

Elevated levels of cerebrospinal fluid α-synuclein oligomers in healthy asymptomatic LRRK2 mutation carriers.

Front Aging Neurosci 2014 25;6:248. Epub 2014 Sep 25.

Department of Biochemistry, College of Medicine and Health Sciences, United Arab Emirates University Al Ain, United Arab Emirates ; Faculty of Medicine, King Abdulaziz University Jeddah, Saudi Arabia.

View Article and Find Full Text PDF
October 2014

LRRK2 parkinsonism in Tunisia and Norway: a comparative analysis of disease penetrance.

Neurology 2014 Aug 9;83(6):568-9. Epub 2014 Jul 9.

From Institut National Mongi Ben Hamida de Neurologie (F.H.), La Rabta, Tunis, Tunisia; the University of British Columbia (J.T., C.T., E.N., M.J.F.), Vancouver; and St. Olav's Hospital (J.O.A.), Norwegian University of Science and Technology, Trondheim, Norway.

View Article and Find Full Text PDF
August 2014

Progressive multifocal leukoencephalopathy in an immunocompetent patient?

Case Rep Neurol 2013 4;5(3):149-54. Epub 2013 Sep 4.

Department of Neurology, St Olavs University Hospital, Trondheim, Norway ; Department of Neuroscience, Children's and Women's Health, Norwegian University of Science and Technology, Trondheim, Norway.

View Article and Find Full Text PDF
October 2013

Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.

Mov Disord 2013 Jun 1;28(6):811-3. Epub 2013 Mar 1.

Department of Medicine (Neurology), Pacific Parkinson's Research Centre, University of British Columbia, Vancouver, British Columbia, Canada.

View Article and Find Full Text PDF
June 2013

STX6 rs1411478 is not associated with increased risk of Parkinson's disease.

Parkinsonism Relat Disord 2013 May 14;19(5):563-5. Epub 2013 Feb 14.

Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, Vancouver, BC, Canada V6T 2B5.

View Article and Find Full Text PDF
May 2013

IgM to S-nitrosylated protein is found intrathecally in relapsing-remitting multiple sclerosis.

J Neuroimmunol 2013 Mar 22;256(1-2):77-83. Epub 2013 Jan 22.

Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway.

View Article and Find Full Text PDF
March 2013

Three family members with elevated plasma cobalamin, transcobalamin and soluble transcobalamin receptor (sCD320).

Clin Chem Lab Med 2013 Mar;51(3):677-82

Department of Clinical Biochemistry, Aarhus University Hospital, Norrebrogade 44, 8000 Aarhus C, Denmark.

View Article and Find Full Text PDF
March 2013

Subclinical signs in LRRK2 mutation carriers.

Parkinsonism Relat Disord 2011 Aug 8;17(7):528-32. Epub 2011 Jun 8.

Department of Neurology, St. Olav's University Hospital, Trondheim, Norway.

View Article and Find Full Text PDF
August 2011

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.

Authors:
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 Rüther Britta Schürmann Reiner 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 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 Mühleisen Markus M Nöthen Susanne Moebus Karl-Heinz Jöckel 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-François Dartigues Christophe Tzourio Annick Alpérovitch 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 Sigurbjörn Björnsson 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 Bossù 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

Nat Genet 2011 May 3;43(5):429-35. Epub 2011 Apr 3.

Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Neurosciences and Mental Health Research Institute, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK.

View Article and Find Full Text PDF
May 2011

Bilateral optic neuritis associated with the use of infliximab.

Authors:
Jan O Aasly

Case Rep Ophthalmol Med 2011 20;2011:232986. Epub 2011 Nov 20.

Department of Neurology, St. Olavs Hospital, 7006 Trondheim, Norway.

View Article and Find Full Text PDF
August 2012

Mitochondrial impairment in patients with Parkinson disease with the G2019S mutation in LRRK2.

Neurology 2010 Nov;75(22):2017-20

Academic Neurology Unit, Medical School, University of Sheffield, Beech Hill Road, Sheffield S10 2RX, UK.

View Article and Find Full Text PDF
November 2010

Genealogical studies in LRRK2-associated Parkinson's disease in central Norway.

Parkinsonism Relat Disord 2010 Sep 10;16(8):527-30. Epub 2010 Jul 10.

Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway.

View Article and Find Full Text PDF
September 2010

Biomarkers: Parkinson disease with dementia and dementia with Lewy bodies.

Parkinsonism Relat Disord 2010 Jun 24;16(5):307-15. Epub 2010 Mar 24.

Department of Neuroscience, Norwegian University of Science and Technology (NTNU), Trondheim, Norway.

View Article and Find Full Text PDF
June 2010

Metabolomic profiling in LRRK2-related Parkinson's disease.

PLoS One 2009 Oct 22;4(10):e7551. Epub 2009 Oct 22.

Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway.

View Article and Find Full Text PDF
October 2009

[When the symptoms do not fit].

Authors:
Jan O Aasly

Tidsskr Nor Laegeforen 2008 Sep;128(18):2066

Nevrologisk avdeling, St. Olavs Hospital, 7006 Trondheim.

View Article and Find Full Text PDF
September 2008

[Motor symptoms in Parkinson disease].

Tidsskr Nor Laegeforen 2008 Sep;128(18):2068-71

Nevrologisk avdeling, Stavanger universitetssjukehus, 4068 Stavanger.

View Article and Find Full Text PDF
September 2008

Genetic association study of synphilin-1 in idiopathic Parkinson's disease.

BMC Med Genet 2008 Mar 21;9:19. Epub 2008 Mar 21.

Department of Laboratory Medicine, Children's and Women's Health, Norwegian University of Science and Technology, Trondheim, Norway.

View Article and Find Full Text PDF
March 2008

Thallium intoxication with metallic skin discoloration.

Authors:
Jan O Aasly

Neurology 2007 May;68(21):1869

Department of Neurology, St. Olav's Hospital, Trondheim, Norway.

View Article and Find Full Text PDF
May 2007

Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease.

Parkinsonism Relat Disord 2007 Oct 2;13(7):386-8. Epub 2007 Apr 2.

Department of Neuroscience, Molecular Genetics Laboratory and Core, Morris K Udall Parkinson's Disease Research Center of Excellence, Mayo Clinic, Jacksonville, FL 32224, USA.

View Article and Find Full Text PDF
October 2007

MAPK-pathway activity, Lrrk2 G2019S, and Parkinson's disease.

J Neurosci Res 2007 May;85(6):1288-94

Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway.

View Article and Find Full Text PDF
May 2007

Variants in the LRRK1 gene and susceptibility to Parkinson's disease in Norway.

Neurosci Lett 2007 Apr 12;416(3):299-301. Epub 2007 Feb 12.

Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA, and Department of Neurology, St. Olav's Hospital, Trondheim, Norway.

View Article and Find Full Text PDF
April 2007

ELAVL4, PARK10, and the Celts.

Mov Disord 2007 Mar;22(4):585-7

Department of Neuroscience and Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA.

View Article and Find Full Text PDF
March 2007

Prevalence of haemochromatosis gene mutations in Parkinson's disease.

J Neurol Neurosurg Psychiatry 2007 Mar 20;78(3):315-7. Epub 2006 Oct 20.

Department of Neuroscience, Faculty of Medicine, Norwegian University of Science and Technology, Trondheim, Norway.

View Article and Find Full Text PDF
March 2007

LRRK2 mutations are not common in Alzheimer's disease.

Mech Ageing Dev 2005 Nov;126(11):1201-5

Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL, USA.

View Article and Find Full Text PDF
November 2005