ArticleNeurobiology of aging2017
Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.
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Article in Neurobiology of aging, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6citing papers in PubMed
2.2field-weighted citation impact, top 12% of its field
What it found
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Who cites it
6 citing papers in PubMed, 14 citations in OpenAlex.
- Mechanisms of Neurodegeneration in Various Forms of Parkinsonism-Similarities and Differences.Cells · 2021Review
- The Genetics of Dementia with Lewy Bodies: Current Understanding and Future Directions.Current neurology and neuroscience reports · 2018Review
- Dementia with Lewy bodies and Parkinson's disease-dementia: current concepts and controversies.Journal of neural transmission (Vienna, Austria : 1996) · 2018Review
- Article
- Intermediate C9orf72 alleles in neurological disorders: does size really matter?Journal of medical genetics · 2017Review
- C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the Literature.Movement disorders clinical practiceReview
Corrections and comments
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Authors and funding
64 authors at 20 institutions in 11 countries.
Celia Kun-RodriguesDepartment of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
Owen A RossDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Tatiana OrmeDepartment of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
Claire ShepherdNeuroscience Research Australia, Sydney, Australia; School of Medical Sciences, Faculty of Medicine, University of New South Wales, Sydney, Australia.
Laura ParkkinenNuffield Department of Clinical Neurosciences, Oxford Parkinson's Disease Centre, University of Oxford, Oxford, UK.
Lee DarwentDepartment of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
Dena HernandezLaboratory of Neurogenetics, National Institutes on Aging, NIH, Bethesda, MD, USA.
Olaf AnsorgeNuffield Department of Clinical Neurosciences, Oxford Parkinson's Disease Centre, University of Oxford, Oxford, UK.
Lorraine N ClarkTaub Institute for Alzheimer Disease and the Aging Brain, Columbia University, New York, NY, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.
Lawrence S HonigTaub Institute for Alzheimer Disease and the Aging Brain, Columbia University, New York, NY, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.
Karen MarderTaub Institute for Alzheimer Disease and the Aging Brain, Columbia University, New York, NY, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.
Afina LemstraDepartment of Neurology and Alzheimer Center, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, the Netherlands.
Philippe ScheltensDepartment of Neurology and Alzheimer Center, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, the Netherlands.
Wiesje van der FlierDepartment of Neurology and Alzheimer Center, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, the Netherlands.
Eva LouwersheimerDepartment of Neurology and Alzheimer Center, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, the Netherlands.
Henne HolstegeDepartment of Neurology and Alzheimer Center, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, the Netherlands.
Ekaterina RogaevaDepartment of Medicine, Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.
Peter St George-HyslopDepartment of Medicine, Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.
Elisabet LondosClinical Memory Research Unit, Institution of Clinical Sciences Malmö, Lund University, Lund, Sweden.
Henrik ZetterbergDepartment of Molecular Neuroscience, UCL Institute of Neurology, London, UK; Clinical Neurochemistry Laboratory, Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden.
Imelda BarberTranslation Cell Sciences-Human Genetics, School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK.
Anne BraaeTranslation Cell Sciences-Human Genetics, School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK.
Kristelle BrownTranslation Cell Sciences-Human Genetics, School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK.
Kevin MorganTranslation Cell Sciences-Human Genetics, School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK.
Walter MaetzlerHertie Institute for Clinical Brain Research, Department of Neurodegeneration, Center of Neurology, University of Tuebingen, Tuebingen, Germany; Department of Neurology, Christian-Albrechts University of Kiel, Kiel, Germany.
Daniela BergHertie Institute for Clinical Brain Research, Department of Neurodegeneration, Center of Neurology, University of Tuebingen, Tuebingen, Germany; Department of Neurology, Christian-Albrechts University of Kiel, Kiel, Germany.
Claire TroakesDepartment of Basic and Clinical Neuroscience and Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Safa Al-SarrajDepartment of Basic and Clinical Neuroscience and Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Tammaryn LashleyQueen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
Janice HoltonQueen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
Yaroslau ComptaMovement Disorders Unit, Neurology Service, Clinical Neuroscience Institute (ICN), Hospital Clínic, University of Barcelona, IDIBAPS, Barcelona, Spain.
Vivianna Van DeerlinDepartment of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
John Q TrojanowskiDepartment of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Geidy E SerranoBanner Sun Health Research Institute, Sun City, AZ, USA.
Thomas G BeachBanner Sun Health Research Institute, Sun City, AZ, USA.
Jordi ClarimonDepartment of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau, Universidad Autònoma de Barcelona, Barcelona, Catalonia, Spain.
Alberto LleóDepartment of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau, Universidad Autònoma de Barcelona, Barcelona, Catalonia, Spain.
Estrella Morenas-RodríguezDepartment of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau, Universidad Autònoma de Barcelona, Barcelona, Catalonia, Spain.
Suzanne LesageSorbonne Université, Université Pierre et Marie Curie-Paris 06, Inserm, Centre National de la Reserche Scientifique, Institute du Cerveau et de la Moelle épinière, Paris, France; Assistance Publique Hôpitaux de Paris, Hôpital de la Salpêtrière, Département de Génétique et Cytogénétique, Paris, France.
Douglas GalaskoDepartment of Neurosciences, University of California, San Diego, La Jolla, CA, USA; Veterans Affairs San Diego Healthcare System, La Jolla, CA, USA.
Eliezer MasliahDepartment of Neurosciences, University of California, San Diego, La Jolla, CA, USA; Veterans Affairs San Diego Healthcare System, La Jolla, CA, USA.
Isabel SantanaCentro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Monica DiezMemory Unit, Department of Neurology, University Hospital Mútua de Terrassa, and Foundation Mútua de Terrassa, Barcelona, Spain; Centro de Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
Pau PastorMemory Unit, Department of Neurology, University Hospital Mútua de Terrassa, and Foundation Mútua de Terrassa, Barcelona, Spain; Centro de Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
Pentti J TienariMolecular Neurology, Research Programs Unit, University of Helsinki, Department of Neurology, Helsinki University Hospital, Helsinki, Finland.
Liisa MyllykangasDepartment of Pathology, University of Helsinki, Helsinki, Finland and HUSLAB.
Minna OinasDepartment of Neuropathology and Neurosurgery, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Tamas ReveszQueen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
Andrew LeesQueen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
Brad F BoeveNeurology Department, Mayo Clinic, Rochester, MN, USA.
Ronald C PetersenNeurology Department, Mayo Clinic, Rochester, MN, USA.
Tanis J FermanDepartment of Psychiatry, Mayo Clinic, Jacksonville, FL, USA; Department of Psychology, Mayo Clinic, Jacksonville, FL, USA.
Valentina Escott-PriceMRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK.
Neill Graff-RadfordDepartment of Neurology, Mayo Clinic, Jacksonville, FL, USA.
Nigel J CairnsKnight Alzheimer's Disease Research Center, Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.
John C MorrisKnight Alzheimer's Disease Research Center, Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.
David J StoneGenetics and Pharmacogenomics, Merck Research Laboratories, West Point, PA, USA.
Stuart Pickering-BrownInstitute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.
David MannInstitute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.
Dennis W DicksonDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Glenda M HallidayNeuroscience Research Australia, Sydney, Australia; School of Medical Sciences, Faculty of Medicine, University of New South Wales, Sydney, Australia.
Andrew SingletonLaboratory of Neurogenetics, National Institutes on Aging, NIH, Bethesda, MD, USA.
Rita GuerreiroDepartment of Molecular Neuroscience, UCL Institute of Neurology, London, UK; Department of Medical Sciences and Institute of Biomedicine-iBiMED, University of Aveiro, Aveiro, Portugal.
Jose BrasDepartment 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: j.bras@ucl.ac.uk.
University of Manchester · GBAmsterdam Neuroscience · NLNational Hospital for Neurology and Neurosurgery · GBUniversity College London · GBUniversity of Nottingham · GBColumbia University · USUniversitat Autònoma de Barcelona · ESUniversity of Helsinki · FIBanner Sun Health Research Institute · USKing's College London · GBNational Institute on Aging · USUniversity of California San Diego · USUniversity of Oxford · GBUniversity of Pennsylvania · USUniversity of Toronto · CAChristian-Albrechts-Universität zu Kiel · DEHertie Institute for Clinical Brain Research · DEHospitais da Universidade de Coimbra · PTInserm · FRJacksonville College · US
Funding
Smartphone-Based "Burst" Cognitive AssessmentsP01AG003991 · NIA · WASHINGTON UNIVERSITY · PI Tammie Lee Smith Benzinger · 1985 to 2026
$69.5MVIRUS-INDUCED BRAIN PATHOLOGYP50AG005131 · NIA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI BREWER, JAMES B · 1985 to 2018
$55.4MWASHINGTON UNIVERSITY ALZHEIMERS DISEASE RESEARCH CENTERP50AG005681 · NIA · WASHINGTON UNIVERSITY · PI MORRIS, JOHN · 1985 to 2019
$52.1MSUPPLEMENT TO ALZHEIMERS DISEASE PATIENT REGISTRYU01AG006786 · NIA · MAYO CLINIC ROCHESTER · PI GRAFF-RADFORD, JONATHAN, JACK, CLIFFORD R. · 1986 to 2023
$49.6MSatellite Diagnostic and Treatment Clinic CoreP50AG008702 · NIA · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI DE JAGER, PHILIP L · 1989 to 2019
$46.3MTrue Metal fac coreP30ES009089 · NIEHS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MATTHEW S PERZANOWSKI · 1998 to 2026
$44.7MTHE PGRN/TDP-43 AXIS IN ALZHEIMER?S DISEASE AND NEURODEGENERATIONP50AG016574 · NIA · MAYO CLINIC ROCHESTER · PI BU, GUOJUN · 1999 to 2018
$36.9MUPenn ADCC Biomarker CoreP30AG010124 · NIA · UNIVERSITY OF PENNSYLVANIA · PI XIE, SHARON XIANGWEN · 1991 to 2020
$35.1MClinical and Translational Science AwardUL1TR000040 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2012 to 2015
$26.2MTRANSLATIONAL APPROACHES TO NEUROPROTECTION OF AXONS IN PDrP50NS038370 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI BURKE, ROBERT E · 1999 to 2014
$24.0MProject IV: "Alpha-Synuclein Strains & Diverse Synucleinopathies"P50NS053488 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI TROJANOWSKI, JOHN Q. · 2007 to 2017
$20.9MAssessment of Candidate Loci in Neurological diseasesZIAAG000957 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW · 2009 to 2024
$12.2MCIHRIntramural NIH HHS Z01 AG000951Medical Research Council G0400074Medical Research Council G0502157Medical Research Council G0900652Medical Research Council G1100540Medical Research Council MR/L023784/2Medical Research Council MR/P005748/1NCATS NIH HHS UL1 TR000040NIA NIH HHS P01 AG003991NIA NIH HHS P30 AG010124NIA NIH HHS P50 AG005131NIA NIH HHS P50 AG005681NIA NIH HHS P50 AG008702NIA NIH HHS P50 AG016574NIA NIH HHS U01 AG006786NIEHS NIH HHS P30 ES009089NINDS NIH HHS P50 NS038370NINDS NIH HHS P50 NS053488NINDS NIH HHS P50 NS072187NINDS NIH HHS R01 NS060113NINDS NIH HHS R01 NS078086NINDS NIH HHS U01 NS100600Wellcome Trust
Abstract
C9orf72 repeat expansions are a common cause of amyotrophic lateral sclerosis and frontotemporal dementia. To date, no large-scale study of dementia with Lewy bodies (DLB) has been undertaken to assess the role of C9orf72 repeat expansions in the disease. Here, we investigated the prevalence of C9orf72 repeat expansions in a large cohort of DLB cases and identified no pathogenic repeat expansions in neuropathologically or clinically defined cases, showing that C9orf72 repeat expansions are not causally associated with DLB.
Indexed as
Genetic Association StudiesC9orf72 ProteinCohort StudiesDNA Repeat ExpansionHumansLewy Body DiseaseC9orf72 ProteinC9orf72 protein, humanC9orf72Dementia with Lewy bodies (DLB)Genetic screen
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