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Genome-wide analyse...
Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia
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- Manzoni, Claudia (author)
- UCL School of Pharmacy
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- Kia, Demis A. (author)
- University College London
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- Ferrari, Raffaele (author)
- University College London
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show more...
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- Leonenko, Ganna (author)
- Cardiff University
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- Costa, Beatrice (author)
- University College London
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- Saba, Valentina (author)
- University of Pavia
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- Jabbari, Edwin (author)
- University College London
-
- Tan, Manuela MX (author)
- Oslo university hospital,University College London
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- Albani, Diego (author)
- Mario Negri Institute for Pharmacological Research
-
- Alvarez, Victoria (author)
- Instituto de Investigación Sanitaria del Principado de Asturias (ISPA),Asturias General Hospital
-
- Alvarez, Ignacio (author)
- Fundació Docència i Recerca MútuaTerrassa,Mutua De Terrassa Hospital
-
- Andreassen, Ole A. (author)
- Oslo university hospital,University of Oslo
-
- Angiolillo, Antonella (author)
- University of Molise
-
- Arighi, Andrea (author)
- Maggiore Hospital Policlinico
-
- Baker, Matt (author)
- Mayo Clinic Florida
-
- Benussi, Luisa (author)
- Centro San Giovanni di Dio Fatebenefratelli
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- Bessi, Valentina (author)
- University of Florence
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- Binetti, Giuliano (author)
- Centro San Giovanni di Dio Fatebenefratelli
-
- Blackburn, Daniel J. (author)
- University of Sheffield
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- Boada, Merce (author)
- International University of Catalonia,CIBER Enfermedades Neurodegenerativas (CIBERNED)
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- Boeve, Bradley F. (author)
- Mayo Clinic Minnesota
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- Borrego-Ecija, Sergi (author)
- Hospital Clínic of Barcelona
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- Borroni, Barbara (author)
- University of Brescia
-
- Bråthen, Geir (author)
- St. Olav’s University Hospital,Norwegian University of Science and Technology
-
- Brooks, William S. (author)
- University of New South Wales
-
- Bruni, Amalia C. (author)
- Regional Neurogenetic Centre, ASPCZ
-
- Caroppo, Paola (author)
- Carlo Besta Neurological Institute, IRCCS
-
- Bandres-Ciga, Sara (author)
- National Institute on Aging, United States
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- Clarimon, Jordi (author)
- Autonomous University of Barcelona
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- Colao, Rosanna (author)
- Regional Neurogenetic Centre, ASPCZ
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- Cruchaga, Carlos (author)
- Washington University in St. Louis
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- Danek, Adrian (author)
- University Hospital Munich
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- de Boer, Sterre CM (author)
- University of Sydney,Vrije Universiteit Amsterdam
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- de Rojas, Itziar (author)
- CIBER Enfermedades Neurodegenerativas (CIBERNED),International University of Catalonia
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- di Costanzo, Alfonso (author)
- University of Molise
-
- Dickson, Dennis W. (author)
- Mayo Clinic Florida
-
- Diehl-Schmid, Janine (author)
- Inn-Salzach-Klinikum,Klinikum rechts der Isar
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- Dobson-Stone, Carol (author)
- University of Sydney
-
- Dols-Icardo, Oriol (author)
- CIBER Enfermedades Neurodegenerativas (CIBERNED),Autonomous University of Barcelona
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- Donizetti, Aldo (author)
- University of Naples Federico II
-
- Dopper, Elise (author)
- Erasmus University Medical Center
-
- Durante, Elisabetta (author)
- Azienda ULSS 2
-
- Ferrari, Camilla (author)
- University of Florence
-
- Forloni, Gianluigi (author)
- Mario Negri Institute for Pharmacological Research
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- Frangipane, Francesca (author)
- Regional Neurogenetic Centre, ASPCZ
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- Fratiglioni, Laura (author)
- Karolinska Institute,Karolinska University Hospital
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- Kramberger, Milica G. (author)
- Karolinska Institute,University Medical Centre Ljubljana
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- Galimberti, Daniela (author)
- Maggiore Hospital Policlinico,University of Milan
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- Gallucci, Maurizio (author)
- Azienda ULSS 2
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- García-González, Pablo (author)
- CIBER Enfermedades Neurodegenerativas (CIBERNED),International University of Catalonia
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- Ghidoni, Roberta (author)
- Centro San Giovanni di Dio Fatebenefratelli
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- Giaccone, Giorgio (author)
- Carlo Besta Neurological Institute, IRCCS
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- Graff, Caroline (author)
- Karolinska Institute,Karolinska University Hospital
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- Graff-Radford, Neill R. (author)
- Mayo Clinic Florida
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- Grafman, Jordan (author)
- Shirley Ryan AbilityLab
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- Halliday, Glenda M. (author)
- University of Sydney
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- Hernandez, Dena G. (author)
- National Institute on Aging, United States
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- Hjermind, Lena E. (author)
- Copenhagen University Hospital
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- Hodges, John R. (author)
- University of Sydney
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- Holloway, Guy (author)
- University of Edinburgh
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- Huey, Edward D. (author)
- Brown University
-
- Illán-Gala, Ignacio (author)
- CIBER Enfermedades Neurodegenerativas (CIBERNED),Autonomous University of Barcelona
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- Josephs, Keith A. (author)
- Mayo Clinic Minnesota
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- Knopman, David S. (author)
- Mayo Clinic Minnesota
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- Kristiansen, Mark (author)
- Zayed Centre for Research into Rare Disease in Children,University College London
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- Kwok, John B. (author)
- University of Sydney
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- Leber, Isabelle (author)
- Assistance Publique des Hôpitaux de Paris,Paris-Sorbonne University
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- Leonard, Hampton L. (author)
- National Institute on Aging, United States,Data Tecnica International LLC,German Center for Neurodegenerative Diseases (DZNE), Bonn
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- Libri, Ilenia (author)
- University of Brescia
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- Lleo, Alberto (author)
- CIBER Enfermedades Neurodegenerativas (CIBERNED),Autonomous University of Barcelona
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- Mackenzie, Ian R. (author)
- Vancouver Coastal Health Research Institute,University of British Columbia
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- Madhan, Gaganjit K. (author)
- Zayed Centre for Research into Rare Disease in Children,University College London
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- Maletta, Raffaele (author)
- Regional Neurogenetic Centre, ASPCZ
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- Marquié, Marta (author)
- International University of Catalonia,CIBER Enfermedades Neurodegenerativas (CIBERNED)
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- Maver, Ales (author)
- University Medical Centre Ljubljana
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- Menendez-Gonzalez, Manuel (author)
- Instituto de Investigación Sanitaria del Principado de Asturias (ISPA),University of Oviedo,Asturias General Hospital
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- Milan, Graziella (author)
- Geriatric Center “Frullone” ASL NA1
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- Miller, Bruce L. (author)
- Trinity College Dublin,University of California, San Francisco
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- Morris, Christopher M. (author)
- University of Newcastle upon Tyne
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- Morris, Huw R. (author)
- University College London
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- Nacmias, Benedetta (author)
- University of Florence,IRCCS Don Gnocchi Foundation
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- Newton, Judith (author)
- University of Edinburgh
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- Nielsen, Jørgen E. (author)
- Copenhagen University Hospital
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- Nilsson, Christer (author)
- Lund University,Lunds universitet,Translationell Neurologi,Forskargrupper vid Lunds universitet,Restorative Parkinson Unit,Translational Neurology (TNY),Lund University Research Groups
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- Novelli, Valeria (author)
- Centro Cardiologico Monzino
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- Padovani, Alessandro (author)
- University of Brescia
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- Pal, Suvankar (author)
- University of Edinburgh
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- Pasquier, Florence (author)
- Lille University Hospital,National Institute for Health and Medical Research, France,University of Lille
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- Pastor, Pau (author)
- Institute for Health Science Research Germans Trias i Pujol (IGTP),Hospital Universitari Germans Trias i Pujol
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- Perneczky, Robert (author)
- German Center for Neurodegenerative Diseases (DZNE), Bonn,University of Sheffield,Munich Cluster for Systems Neurology,Imperial College London,University Hospital Munich
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- Peterlin, Borut (author)
- University Medical Centre Ljubljana
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- Petersen, Ronald C. (author)
- Mayo Clinic Minnesota
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- Piguet, Olivier (author)
- University of Sydney
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- Pijnenburg, Yolande AL (author)
- Vrije Universiteit Amsterdam
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- Puca, Annibale A. (author)
- IRCCS Multimedica,University of Salerno
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- Rademakers, Rosa (author)
- Mayo Clinic Florida,University of Antwerp,Flanders Interuniversity Institute for Biotechnology
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- Rainero, Innocenzo (author)
- University of Turin,Citta' della Salute e della Scienza Hospital-University of Turin
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- Reus, Lianne M. (author)
- Vrije Universiteit Amsterdam,University of California, Los Angeles
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- Richardson, Anna MT (author)
- University of Manchester
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- Riemenschneider, Matthias (author)
- Saarland University Hospital
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- Rogaeva, Ekaterina (author)
- Tanz Centre for Research in Neurodegenerative Diseases
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- Rogelj, Boris (author)
- Jožef Stefan Institute,University of Ljubljana
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- Rollinson, Sara (author)
- University of Manchester
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- Rosen, Howard (author)
- University of California, San Francisco
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- Rossi, Giacomina (author)
- Carlo Besta Neurological Institute, IRCCS
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- Rowe, James B. (author)
- University of Cambridge
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- Rubino, Elisa (author)
- University of Turin,Citta' della Salute e della Scienza Hospital-University of Turin
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- Ruiz, Agustin (author)
- International University of Catalonia,CIBER Enfermedades Neurodegenerativas (CIBERNED)
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- Salvi, Erika (author)
- Carlo Besta Neurological Institute, IRCCS
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- Sanchez-Valle, Raquel (author)
- Hospital Clínic of Barcelona
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- Sando, Sigrid Botne (author)
- Norwegian University of Science and Technology,St. Olav’s University Hospital
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- Santillo, Alexander F. (author)
- Lund University,Lunds universitet,Klinisk minnesforskning,Forskargrupper vid Lunds universitet,LU profilområde: Proaktivt åldrande,Lunds universitets profilområden,Clinical Memory Research,Lund University Research Groups,LU Profile Area: Proactive Ageing,Lund University Profile areas
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- Saxon, Jennifer A. (author)
- University of Manchester
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- Schlachetzki, Johannes CM (author)
- University of California, San Diego
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- Scholz, Sonja W. (author)
- Johns Hopkins University,National Institute of Neurological Disorders and Stroke (NINDS)
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- Seelaar, Harro (author)
- Erasmus University Medical Center
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- Seeley, William W. (author)
- University of California, San Francisco
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- Serpente, Maria (author)
- Maggiore Hospital Policlinico
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- Sorbi, Sandro (author)
- IRCCS Don Gnocchi Foundation,University of Florence
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- Sordon, Sabrina (author)
- Saarland University Hospital
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- St George-Hyslop, Peter (author)
- Tanz Centre for Research in Neurodegenerative Diseases,Columbia University
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- Thompson, Jennifer C. (author)
- University of Manchester
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- Van Broeckhoven, Christine (author)
- University of Antwerp,Flanders Interuniversity Institute for Biotechnology
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- Van Deerlin, Vivianna M. (author)
- University of Pennsylvania
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- Van der Lee, Sven J. (author)
- Vrije Universiteit Amsterdam
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- Van Swieten, John (author)
- Erasmus University Medical Center
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- Tagliavini, Fabrizio (author)
- Carlo Besta Neurological Institute, IRCCS
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- van der Zee, Julie (author)
- University of Antwerp,Flanders Interuniversity Institute for Biotechnology
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- Veronesi, Arianna (author)
- Azienda ULSS 2
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- Vitale, Emilia (author)
- Kean University,CNR Istituto per le Tecnologie Applicate ai Beni Culturali (CNR-ITABC)
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- Waldo, Maria Landqvist (author)
- Lund University,Lunds universitet,Kliniska Vetenskaper, Helsingborg,Sektion II,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Psykiatri, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Clinical Sciences, Helsingborg,Section II,Department of Clinical Sciences, Lund,Faculty of Medicine,Psychiatry (Lund),Section IV,Department of Clinical Sciences, Lund
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- Yokoyama, Jennifer S. (author)
- University of California, San Francisco,Trinity College Dublin
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- Nalls, Mike A. (author)
- National Institute on Aging, United States,Data Tecnica International LLC
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- Momeni, Parastoo (author)
- Rona Holdings
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- Singleton, Andrew B. (author)
- National Institute on Aging, United States
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- Hardy, John (author)
- Hong Kong University of Science and Technology,University College London,Reta Lila Weston Institute of Neurological Studies,University College London Hospital
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- Escott-Price, Valentina (author)
- Cardiff University
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(creator_code:org_t)
- 2024
- 2024
- English 14 s.
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In: American Journal of Human Genetics. - 0002-9297. ; 111:7, s. 1316-1329
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http://dx.doi.org/10... (free)
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Subject headings
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- Frontotemporal dementia (FTD) is the second most common cause of early-onset dementia after Alzheimer disease (AD). Efforts in the field mainly focus on familial forms of disease (fFTDs), while studies of the genetic etiology of sporadic FTD (sFTD) have been less common. In the current work, we analyzed 4,685 sFTD cases and 15,308 controls looking for common genetic determinants for sFTD. We found a cluster of variants at the MAPT (rs199443; p = 2.5 × 10−12, OR = 1.27) and APOE (rs6857; p = 1.31 × 10−12, OR = 1.27) loci and a candidate locus on chromosome 3 (rs1009966; p = 2.41 × 10−8, OR = 1.16) in the intergenic region between RPSA and MOBP, contributing to increased risk for sFTD through effects on expression and/or splicing in brain cortex of functionally relevant in-cis genes at the MAPT and RPSA-MOBP loci. The association with the MAPT (H1c clade) and RPSA-MOBP loci may suggest common genetic pleiotropy across FTD and progressive supranuclear palsy (PSP) (MAPT and RPSA-MOBP loci) and across FTD, AD, Parkinson disease (PD), and cortico-basal degeneration (CBD) (MAPT locus). Our data also suggest population specificity of the risk signals, with MAPT and APOE loci associations mainly driven by Central/Nordic and Mediterranean Europeans, respectively. This study lays the foundations for future work aimed at further characterizing population-specific features of potential FTD-discriminant APOE haplotype(s) and the functional involvement and contribution of the MAPT H1c haplotype and RPSA-MOBP loci to pathogenesis of sporadic forms of FTD in brain cortex.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
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Manzoni, Claudia
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Kia, Demis A.
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Ferrari, Raffael ...
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Leonenko, Ganna
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Costa, Beatrice
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Saba, Valentina
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Jabbari, Edwin
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Tan, Manuela MX
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Albani, Diego
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Alvarez, Victori ...
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Alvarez, Ignacio
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Andreassen, Ole ...
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Angiolillo, Anto ...
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Arighi, Andrea
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Baker, Matt
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Benussi, Luisa
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Bessi, Valentina
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Binetti, Giulian ...
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Blackburn, Danie ...
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Boada, Merce
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Boeve, Bradley F ...
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Borrego-Ecija, S ...
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Borroni, Barbara
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Bråthen, Geir
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Brooks, William ...
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Bruni, Amalia C.
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Caroppo, Paola
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Bandres-Ciga, Sa ...
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Clarimon, Jordi
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Colao, Rosanna
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Cruchaga, Carlos
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Danek, Adrian
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de Boer, Sterre ...
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de Rojas, Itziar
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di Costanzo, Alf ...
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Dickson, Dennis ...
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Diehl-Schmid, Ja ...
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Dobson-Stone, Ca ...
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Dols-Icardo, Ori ...
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Donizetti, Aldo
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Dopper, Elise
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Durante, Elisabe ...
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Ferrari, Camilla
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Forloni, Gianlui ...
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Frangipane, Fran ...
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Fratiglioni, Lau ...
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Kramberger, Mili ...
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Galimberti, Dani ...
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Gallucci, Mauriz ...
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García-González, ...
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Ghidoni, Roberta
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Giaccone, Giorgi ...
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Graff, Caroline
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Graff-Radford, N ...
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Grafman, Jordan
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Halliday, Glenda ...
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Hernandez, Dena ...
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Hjermind, Lena E ...
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Hodges, John R.
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Holloway, Guy
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Huey, Edward D.
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Illán-Gala, Igna ...
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Josephs, Keith A ...
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Knopman, David S ...
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Kristiansen, Mar ...
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Kwok, John B.
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Leber, Isabelle
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Leonard, Hampton ...
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Libri, Ilenia
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Lleo, Alberto
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Mackenzie, Ian R ...
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Madhan, Gaganjit ...
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Maletta, Raffael ...
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Marquié, Marta
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Maver, Ales
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Menendez-Gonzale ...
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Milan, Graziella
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Miller, Bruce L.
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Morris, Christop ...
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Morris, Huw R.
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Nacmias, Benedet ...
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Newton, Judith
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Nielsen, Jørgen ...
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Nilsson, Christe ...
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Novelli, Valeria
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Padovani, Alessa ...
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Pal, Suvankar
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Pasquier, Floren ...
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Pastor, Pau
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Perneczky, Rober ...
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Peterlin, Borut
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Petersen, Ronald ...
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Piguet, Olivier
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Pijnenburg, Yola ...
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Puca, Annibale A ...
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Rademakers, Rosa
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Rainero, Innocen ...
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Reus, Lianne M.
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Richardson, Anna ...
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Riemenschneider, ...
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Rogaeva, Ekateri ...
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Rogelj, Boris
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Rollinson, Sara
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Rosen, Howard
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Rossi, Giacomina
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Rowe, James B.
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Rubino, Elisa
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Ruiz, Agustin
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Salvi, Erika
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Sanchez-Valle, R ...
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Sando, Sigrid Bo ...
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Santillo, Alexan ...
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Saxon, Jennifer ...
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Schlachetzki, Jo ...
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Scholz, Sonja W.
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Seelaar, Harro
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Seeley, William ...
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Serpente, Maria
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Sorbi, Sandro
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Sordon, Sabrina
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St George-Hyslop ...
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Thompson, Jennif ...
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Van Broeckhoven, ...
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Van Deerlin, Viv ...
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Van der Lee, Sve ...
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Van Swieten, Joh ...
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Tagliavini, Fabr ...
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van der Zee, Jul ...
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Veronesi, Ariann ...
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Vitale, Emilia
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Waldo, Maria Lan ...
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Yokoyama, Jennif ...
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Nalls, Mike A.
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Momeni, Parastoo
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Singleton, Andre ...
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Hardy, John
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Escott-Price, Va ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Neurology
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Lund University