Publications by authors named "Liisa Myllykangas"

55Publications

Chorea-acanthocytosis associated with two novel heterozygous mutations in the VPS13A gene.

J Neurol Sci 2020 01 31;408:116555. Epub 2019 Oct 31.

Department of Clinical Genetics, Helsinki University Hospital, Department of Medical Genetics, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.jns.2019.116555DOI Listing
January 2020

Lewy-related pathology exhibits two anatomically and genetically distinct progression patterns: a population-based study of Finns aged 85.

Acta Neuropathol 2019 11 7;138(5):771-782. Epub 2019 Sep 7.

Department of Pathology, HUSLAB, Helsinki University Hospital, University of Helsinki, P.O. Box 21, 00014, Helsinki, Finland.

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http://dx.doi.org/10.1007/s00401-019-02071-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6800868PMC
November 2019

Causes of Death of Professional Musicians in the Classical Genre.

Med Probl Perform Art 2019 Jun;34(2):92-97

Dep. of Medical Genetics, Biomedicum, University of Helsinki, Haartmaninkatu 8, 00251 Helsinki, Finland. Tel 358 50 544 7030.

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http://dx.doi.org/10.21091/mppa.2019.2016DOI Listing
June 2019

Oligogenic basis of sporadic ALS: The example of p.Ala90Val mutation.

Neurol Genet 2019 Jun 23;5(3):e335. Epub 2019 Apr 23.

Department of Clinical Genetics (L.K.), Helsinki University Hospital; Department of Medical Genetics (L.K.), University of Helsinki, Helsinki, Finland; Molecular Neurology (K.K., M.V., P.J.T.), Research Programs Unit, Biomedicum, University of Helsinki, Helsinki, Finland; Department of Medical Genetics (S.M.), University of Helsinki, Helsinki, Finland and Turku; University Hospital (S.M.), Laboratory Division, Genetics and Saske, Department of Medical Genetics, Turku, Finland; Department of Neurology (H.L.), Helsinki University Hospital, and Molecular Neurology, Research Programs Unit, Biomedicum, University of Helsinki, Helsinki, Finland; Neuromuscular Research Center (M.J., B.U.), Tampere University Hospital and University of Tampere, Tampere, Finland; Division of Clinical Neurosciences (M.J.), Turku University Hospital and University of Turku, Turku, Finland; Folkhälsan Research Center (B.U.), Biomedicum, University of Helsinki, Helsinki, Finland; Institute of Biomedicine (P.P., J.S.), University of Turku; Turku University Hospital (P.P., J.S.), Laboratory Division, Genetics and Saske, Department of Medical Genetics, Turku, Finland; Department of Pathology (A.P.), University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Laboratory of Neurogenetics (B.J.T.), National Institute on Aging, National Institutes of Health, Bethesda, MD; Merck & Co. (D.J.S.), Inc., West Point, PA; Department of Clinical Genetics (M.P.), Helsinki University Hospital; Department of Medical Genetics (M.P.), University of Helsinki, Helsinki, Finland; Department of Neurology (P.J.T.), Helsinki University Hospital; and Department of Pathology (L.M.), University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1212/NXG.0000000000000335DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481226PMC
June 2019

C9orf72 hexanucleotide repeat length in older population: normal variation and effects on cognition.

Neurobiol Aging 2019 12 11;84:242.e7-242.e12. Epub 2019 Mar 11.

Molecular Neurology, Research Programs Unit, Department of Neurology, University of Helsinki, Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.neurobiolaging.2019.02.026DOI Listing
December 2019

Heritability and genetic variance of dementia with Lewy bodies.

Neurobiol Dis 2019 07 3;127:492-501. Epub 2019 Apr 3.

Department of Neurodegenerative Diseases, UCL Institute of Neurology, London, UK; UK Dementia Research Institute (UK DRI) at UCL, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2019.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6588425PMC
July 2019

A comprehensive screening of copy number variability in dementia with Lewy bodies.

Neurobiol Aging 2019 03 24;75:223.e1-223.e10. Epub 2018 Oct 24.

Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK; UK Dementia Research Institute (UK DRI) at UCL, London, UK; Department of Medical Sciences and Institute of Biomedicine, iBiMED, University of Aveiro, Aveiro, Portugal. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01974580183038
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http://dx.doi.org/10.1016/j.neurobiolaging.2018.10.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6541211PMC
March 2019

Hippocampal Sclerosis in the Oldest Old: A Finnish Population-Based Study.

J Alzheimers Dis 2018 ;63(1):263-272

Department of Pathology, University of Helsinki and HUSLAB, Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.3233/JAD-171068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5900558PMC
August 2019

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Authors:
Aude Nicolas Kevin P Kenna Alan E Renton Nicola Ticozzi Faraz Faghri Ruth Chia Janice A Dominov Brendan J Kenna Mike A Nalls Pamela Keagle Alberto M Rivera Wouter van Rheenen Natalie A Murphy Joke J F A van Vugt Joshua T Geiger Rick A Van der Spek Hannah A Pliner Shankaracharya Bradley N Smith Giuseppe Marangi Simon D Topp Yevgeniya Abramzon Athina Soragia Gkazi John D Eicher Aoife Kenna Gabriele Mora Andrea Calvo Letizia Mazzini Nilo Riva Jessica Mandrioli Claudia Caponnetto Stefania Battistini Paolo Volanti Vincenzo La Bella Francesca L Conforti Giuseppe Borghero Sonia Messina Isabella L Simone Francesca Trojsi Fabrizio Salvi Francesco O Logullo Sandra D'Alfonso Lucia Corrado Margherita Capasso Luigi Ferrucci Cristiane de Araujo Martins Moreno Sitharthan Kamalakaran David B Goldstein Aaron D Gitler Tim Harris Richard M Myers Hemali Phatnani Rajeeva Lochan Musunuri Uday Shankar Evani Avinash Abhyankar Michael C Zody Julia Kaye Steven Finkbeiner Stacia K Wyman Alex LeNail Leandro Lima Ernest Fraenkel Clive N Svendsen Leslie M Thompson Jennifer E Van Eyk James D Berry Timothy M Miller Stephen J Kolb Merit Cudkowicz Emily Baxi Michael Benatar J Paul Taylor Evadnie Rampersaud Gang Wu Joanne Wuu Giuseppe Lauria Federico Verde Isabella Fogh Cinzia Tiloca Giacomo P Comi Gianni Sorarù Cristina Cereda Philippe Corcia Hannu Laaksovirta Liisa Myllykangas Lilja Jansson Miko Valori John Ealing Hisham Hamdalla Sara Rollinson Stuart Pickering-Brown Richard W Orrell Katie C Sidle Andrea Malaspina John Hardy Andrew B Singleton Janel O Johnson Sampath Arepalli Peter C Sapp Diane McKenna-Yasek Meraida Polak Seneshaw Asress Safa Al-Sarraj Andrew King Claire Troakes Caroline Vance Jacqueline de Belleroche Frank Baas Anneloor L M A Ten Asbroek José Luis Muñoz-Blanco Dena G Hernandez Jinhui Ding J Raphael Gibbs Sonja W Scholz Mary Kay Floeter Roy H Campbell Francesco Landi Robert Bowser Stefan M Pulst John M Ravits Daniel J L MacGowan Janine Kirby Erik P Pioro Roger Pamphlett James Broach Glenn Gerhard Travis L Dunckley Christopher B Brady Neil W Kowall Juan C Troncoso Isabelle Le Ber Kevin Mouzat Serge Lumbroso Terry D Heiman-Patterson Freya Kamel Ludo Van Den Bosch Robert H Baloh Tim M Strom Thomas Meitinger Aleksey Shatunov Kristel R Van Eijk Mamede de Carvalho Maarten Kooyman Bas Middelkoop Matthieu Moisse Russell L McLaughlin Michael A Van Es Markus Weber Kevin B Boylan Marka Van Blitterswijk Rosa Rademakers Karen E Morrison A Nazli Basak Jesús S Mora Vivian E Drory Pamela J Shaw Martin R Turner Kevin Talbot Orla Hardiman Kelly L Williams Jennifer A Fifita Garth A Nicholson Ian P Blair Guy A Rouleau Jesús Esteban-Pérez Alberto García-Redondo Ammar Al-Chalabi Ekaterina Rogaeva Lorne Zinman Lyle W Ostrow Nicholas J Maragakis Jeffrey D Rothstein Zachary Simmons Johnathan Cooper-Knock Alexis Brice Stephen A Goutman Eva L Feldman Summer B Gibson Franco Taroni Antonia Ratti Cinzia Gellera Philip Van Damme Wim Robberecht Pietro Fratta Mario Sabatelli Christian Lunetta Albert C Ludolph Peter M Andersen Jochen H Weishaupt William Camu John Q Trojanowski Vivianna M Van Deerlin Robert H Brown Leonard H van den Berg Jan H Veldink Matthew B Harms Jonathan D Glass David J Stone Pentti Tienari Vincenzo Silani Adriano Chiò Christopher E Shaw Bryan J Traynor John E Landers

Neuron 2018 03;97(6):1268-1283.e6

Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2018.02.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867896PMC
March 2018

Genetics of dementia in a Finnish cohort.

Eur J Hum Genet 2018 06 23;26(6):827-837. Epub 2018 Feb 23.

Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1038/s41431-018-0117-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5974394PMC
June 2018

Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+).

Neurol Genet 2018 Feb 18;4(1):e211. Epub 2018 Jan 18.

Department of Pathology (M.M., A.E.P., M.T., L.M.), University of Helsinki, and Helsinki University Hospital, Finland; Molecular Neurology (K.K., M.V., T. Peuralinna, P.J.T.), Research Programs Unit, University of Helsinki, and Department of Neurology, Helsinki University Hospital, Finland; Institute of Neuroscience (T. Polvikoski), Newcastle University, United Kingdom; Laboratory of Neurogenetics (A.B.S., B.J.T.), National Institutes on Aging, NIH, Bethesda, MD; and Merck Research Laboratories (D.J.S.), Merck & Co., Inc., West Point, PA, USA.

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
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http://dx.doi.org/10.1212/NXG.0000000000000211DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5773846PMC
February 2018

Heterozygous TYROBP deletion (PLOSL) is not a strong risk factor for cognitive impairment.

Neurobiol Aging 2018 04 18;64:159.e1-159.e4. Epub 2017 Dec 18.

Molecular Neurology, Research Programs Unit, University of Helsinki and Department of Neurology, Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.12.008DOI Listing
April 2018

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study.

Lancet Neurol 2018 01 16;17(1):64-74. Epub 2017 Dec 16.

UK Dementia Research Institute, University College London, London, UK; Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK; Department of Medical Sciences and Institute of Biomedicine, iBiMED, University of Aveiro, Aveiro, Portugal. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(17)30400-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5805394PMC
January 2018

"Genetic code" of brain ageing.

Duodecim 2017;133(2):201-8

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January 2018

Amygdala α-Synuclein Pathology in the Population-Based Vantaa 85+ Study.

J Alzheimers Dis 2017 ;58(3):669-674

Department of Pathology, University of Helsinkiand Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.3233/JAD-170104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218117PMC
March 2018

Population-based analysis of pathological correlates of dementia in the oldest old.

Ann Clin Transl Neurol 2017 03 12;4(3):154-165. Epub 2017 Feb 12.

Department of Pathology Huslab Helsinki University Hospital and Medicum University of Helsinki Helsinki Finland.

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http://dx.doi.org/10.1002/acn3.389DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5338150PMC
March 2017

A Novel Loss-of-Function GRN Mutation p.(Tyr229*): Clinical and Neuropathological Features.

J Alzheimers Dis 2017 ;55(3):1167-1174

Department of Pathology, University of Helsinki and HUSLAB, Helsinki, Finland.

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http://dx.doi.org/10.3233/JAD-160647DOI Listing
February 2018

Amyloid tracers binding sites in autosomal dominant and sporadic Alzheimer's disease.

Alzheimers Dement 2017 Apr 28;13(4):419-430. Epub 2016 Sep 28.

Division of Translational Alzheimer Neurobiology, Department of Neurobiology Care Sciences and Society, Center for Alzheimer Research, Karolinska Institutet, Stockholm, Sweden; Department of Geriatric Medicine, Karolinska University Hospital Huddinge, Stockholm, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.jalz.2016.08.006DOI Listing
April 2017

Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.

Neurobiol Aging 2017 01 2;49:214.e13-214.e15. Epub 2016 Sep 2.

Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK; Department of Medical Sciences and Institute of Biomedicine-iBiMED, University of Aveiro, Aveiro, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.08.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5154872PMC
January 2017

Capillary amyloid-β protein deposition in a population-based study (Vantaa 85+).

J Alzheimers Dis 2016 ;49(1):149-57

Department of Pathology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.

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http://dx.doi.org/10.3233/JAD-150241DOI Listing
September 2016

Genome-wide association study of neocortical Lewy-related pathology.

Ann Clin Transl Neurol 2015 Sep 18;2(9):920-31. Epub 2015 Aug 18.

Molecular Neurology, Research Program Unit, Biomedicum, University of Helsinki Helsinki, Finland ; Department of Neurology, Helsinki University Central Hospital Helsinki, Finland.

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http://dx.doi.org/10.1002/acn3.231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574809PMC
September 2015

CADASIL and CARASIL.

Brain Pathol 2014 Sep;24(5):525-44

Protein Chemistry Unit, Institute of Biomedicine/Anatomy, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1111/bpa.12181DOI Listing
September 2014

Novel α-synuclein mutation A53E associated with atypical multiple system atrophy and Parkinson's disease-type pathology.

Neurobiol Aging 2014 Sep 26;35(9):2180.e1-5. Epub 2014 Mar 26.

Department of Pathology, University of Helsinki and HUSLAB, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.03.024DOI Listing
September 2014

Familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma.

Neurobiol Aging 2014 Feb 27;35(2):444.e11-4. Epub 2013 Sep 27.

Laboratory of Neurogenetics, Department of Internal Medicine, Texas Tech University Health Sciences Center, Lubbock, TX, USA; Institute of Neurology, University College London, Queen Square, London, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S01974580130035
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http://dx.doi.org/10.1016/j.neurobiolaging.2013.08.021DOI Listing
February 2014

Homozygosity analysis in amyotrophic lateral sclerosis.

Eur J Hum Genet 2013 Dec 24;21(12):1429-35. Epub 2013 Apr 24.

Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, and Department of Clinical Neuroscience, UCL Institute of Neurology, Queen Square, London, UK.

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http://dx.doi.org/10.1038/ejhg.2013.59DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3829775PMC
December 2013

Amyloid precursor protein (APP) A673T mutation in the elderly Finnish population.

Neurobiol Aging 2013 May 24;34(5):1518.e1-3. Epub 2012 Oct 24.

Department of Pathology, University of Helsinki and HUSLAB, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.09.017DOI Listing
May 2013

Intracerebral hemorrhage in the oldest old: a population-based study (vantaa 85+).

Front Neurol 2012 28;3:103. Epub 2012 Jun 28.

Department of Pathology, Haartman Institute, University of Helsinki and HUSLAB Helsinki, Finland.

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http://dx.doi.org/10.3389/fneur.2012.00103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3449495PMC
October 2012

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.

Neuron 2011 Oct 21;72(2):257-68. Epub 2011 Sep 21.

Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.neuron.2011.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3200438PMC
October 2011

Matrix metalloproteinase-β19 expressed in cerebral amyloid angiopathy.

Amyloid 2011 Mar 25;18(1):3-9. Epub 2011 Jan 25.

Department of Pathology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.

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http://dx.doi.org/10.3109/13506129.2010.541960DOI Listing
March 2011

alpha-Synuclein pathology in the spinal cord autonomic nuclei associates with alpha-synuclein pathology in the brain: a population-based Vantaa 85+ study.

Acta Neuropathol 2010 Jun;119(6):715-22

Department of Pathology, Helsinki University Central Hospital,University of Helsinki, P.O. Box 21, Haartmaninkatu 3, 00014 Helsinki, Finland.

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http://link.springer.com/10.1007/s00401-009-0629-6
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http://dx.doi.org/10.1007/s00401-009-0629-6DOI Listing
June 2010

Genetic modifiers of degeneration in the cathepsin D deficient Drosophila model for neuronal ceroid lipofuscinosis.

Neurobiol Dis 2009 Dec 15;36(3):488-93. Epub 2009 Sep 15.

Folkhälsan Institute of Genetics, Biomedicum Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.nbd.2009.09.001DOI Listing
December 2009

Neuropathologic findings of dementia with lewy bodies (DLB) in a population-based Vantaa 85+ study.

J Alzheimers Dis 2009 ;18(3):677-89

Department of Pathology, University of Helsinki, and Helsinki University Central Hospital, P.O. Box 21 (Haartmaninkatu 3), FI-00014 Helsinki, Finland.

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http://dx.doi.org/10.3233/JAD-2009-1169DOI Listing
June 2010

Cathepsin D expression level affects alpha-synuclein processing, aggregation, and toxicity in vivo.

Mol Brain 2009 Feb 9;2. Epub 2009 Feb 9.

Center for Neurologic Diseases, Department of Neurology, Brigham & Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1186/1756-6606-2-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2644690PMC
February 2009

Neurofibrillary tau pathology modulated by genetic variation of alpha-synuclein.

Ann Neurol 2008 Sep;64(3):348-52

Molecular Neurology Programme, Biomedicum, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1002/ana.21446DOI Listing
September 2008

Apolipoprotein E (APOE) and lipoprotein lipase (LPL) gene variants and carotid atherosclerotic lesions in the oldest old: a population-based autopsy study.

Arch Gerontol Geriatr 2009 Jul-Aug;49(1):108-12. Epub 2008 Jul 10.

Folkhälsan Institute of Genetics and Department of Pathology, University of Helsinki and Helsinki University Central Hospital, POB 63, 00014 Helsinki, Finland.

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http://dx.doi.org/10.1016/j.archger.2008.05.007DOI Listing
August 2009

Aggregated alpha-synuclein mediates dopaminergic neurotoxicity in vivo.

J Neurosci 2007 Mar;27(12):3338-46

Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1523/JNEUROSCI.0285-07.2007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6672466PMC
March 2007

[A fruit fly (Drosophila melanogaster) as a model organism for studies of brain diseases].

Duodecim 2006 ;122(4):443-50

Folkhälsanin perinnöllisyystieteen laitos jaa Neurotieteen tutkimuskeskus, Biomedicum Helsinki, Helsingin yliopisto.

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August 2006

Cathepsin D-deficient Drosophila recapitulate the key features of neuronal ceroid lipofuscinoses.

Neurobiol Dis 2005 Jun-Jul;19(1-2):194-9

Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, 77 Avenue Louis Pasteur, NRB Room 652, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.nbd.2004.12.019DOI Listing
July 2005