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7 p, 663.7 KB |
Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort
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Verheijen, Jan (University of Antwerp) ;
van der Zee, Julie (University of Antwerp) ;
Gijselinck, Ilse (University of Antwerp) ;
Van den Bossche, Tobi (University Hospital Antwerp (Bèlgica)) ;
Dillen, Lubina (University of Antwerp) ;
Heeman, Bavo (University of Antwerp) ;
Gómez-Tortosa, Estrella (Hospital Universitario Fundación Jiménez Díaz) ;
Lladó, Albert (Hospital Clínic i Provincial de Barcelona) ;
Sanchez-Valle, Raquel (Hospital Clínic i Provincial de Barcelona) ;
Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suecia)) ;
Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Pastor, Maria A. (Clínica Universidad de Navarra) ;
Benussi, Luisa (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ;
Ghidoni, Roberta (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ;
Binetti, Giuliano (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ;
Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
de Mendonça, Alexandre (University of Lisbon) ;
Gelpi, Ellen (Hospital Clínic i Provincial de Barcelona) ;
Tsolaki, Magda (Aristotle University of Thessaloniki) ;
Diehl-Schmid, Janine (Technische Universität München) ;
Nacmias, Benedetta (University of Florence) ;
Almeida, Maria Rosário (University of Coimbra) ;
Borroni, Barbara (University of Brescia) ;
Matej, Radoslav (Thomayer Hospital in Prague) ;
Ruiz, Agustín (Fundació ACE) ;
Engelborghs, Sebastiaan (University Hospital Antwerp (Bèlgica)) ;
Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ;
De Deyn, Peter P. (University Hospital Antwerp (Bèlgica)) ;
Cruts, Marc (University of Antwerp) ;
Van Broeckhoven, Christine (University of Antwerp) ;
Sleegers, Kristel (University of Antwerp) ;
Goeman, Johan ;
Nuytten, Dirk ;
Vandenbulcke, Mathieu ;
Santens, Patrick 700 1_ ;
Sieben, Anne ;
Dermaut, Bart ;
Versijpt, Jan ;
Michotte, Alex ;
Deryck, Olivier ;
Bergmans, Bruno ;
Willems, Christiana ;
Ivanoiu, Adrian ;
Salmon, Eric ;
Alexopoulos, Panagiotis (Technische Universität München) ;
Sorbi, Sandro ;
Bessi, Valentina ;
Bagnoli, Silvia ;
Santana, Isabel ;
Simões do Couto, Frederico ;
Martins, Madalena ;
Thonberg, Häkan ;
Fratiglioni, Laura ;
Padovani, Alessandro ;
Rohan, Zdenek ;
Razquin, Cristina ;
Lorenzo, Elena ;
Iglesias, Elena ;
Seijo-Martínez, Manuel ;
Rene, Ramon ;
Gascon, Jordi ;
Campdelacreu, Jaume ;
Koutroumani, Maria ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ;
Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
TANK-binding kinase 1 (TBK1) loss-of-function (LoF) mutations are known to cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), often combined with memory deficits early in the disease course. [...]
2018 -  10.1016/j.neurobiolaging.2017.10.012
Neurobiology of Aging, Vol. 62 (february 2018) , p. 245.e1-245.e7
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8 p, 667.2 KB |
Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia
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Philtjens, Stéphanie (University of Antwerp) ;
Van Mossevelde, Sara (Antwerp University Hospital (UZA)) ;
Van der Zee, Julie (University of Antwerp) ;
Wauters, Eline (University of Antwerp) ;
Dillen, Lubina (University of Antwerp) ;
Vandenbulcke, Mathieu (University Hospitals Leuven (Bèlgica)) ;
Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ;
Ivanoiu, Adrian (Université Catholique de Louvain) ;
Sieben, Anne (Universitair Ziekenhuis Gent) ;
Willems, Christiana (Jessa Hospital) ;
Benussi, Luisa (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ;
Ghidoni, Roberta (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ;
Binetti, Giuliano (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ;
Borroni, Barbara (University of Brescia) ;
Padovani, Alessandro (University of Brescia) ;
Pastor, Pau (Instituto de Salud Carlos III) ;
Diez-Fairen, Monica (Instituto de Salud Carlos III) ;
Aguilar, Miquel (Instituto de Salud Carlos III) ;
de Mendonça, Alexandre (University of Lisbon) ;
Miltenberger-Miltényi, Gabriel (University of Lisbon) ;
Hernández, Isabel (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Boada, M. (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Ruiz, A. (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Nacmias, B. (University of Florence) ;
Sorbi, S. (IRCCS Don Gnocchi) ;
Almeida, M.Rosario (University of Coimbra) ;
Santana, Isabel (University of Coimbra) ;
Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Frisoni, Giovanni B. (IRCCS Fatebenefratelli) ;
Sanchez-Valle, Raquel (Hospital Clínic i Provincial de Barcelona) ;
Llado Plarrumani, Albert (Hospital Clínic i Provincial de Barcelona) ;
Gómez-Tortosa, Estrella (Hospital Universitario Fundación Jiménez Díaz) ;
Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Van den Broeck, Marleen (University of Antwerp) ;
Peeters, Karin (University of Antwerp) ;
Cras, Patrick (Antwerp University Hospital (UZA)) ;
De Deyn, Peter P. (Middelheim and Hoge Beuken) ;
Engelborghs, Sebastiaan (Middelheim and Hoge Beuken) ;
Cruts, Marc (University of Antwerp) ;
Van Broeckhoven, Christine (University of Antwerp) ;
Universitat Autònoma de Barcelona
We investigated the genetic role of sortilin (SORT1) in frontotemporal dementia (FTD). SORT1 is the neuronal receptor for granulin, encoded by the progranulin gene (GRN), a major causal gene for inherited FTD. [...]
2018 - 10.1016/j.neurobiolaging.2018.02.011
Neurobiology of Aging, Vol. 66 (june 2018) , p. 181.e3-181.e10
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3 p, 377.7 KB |
No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients
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Baradaran-Heravi, Yalda (University of Antwerp) ;
Dillen, Lubina (University of Antwerp) ;
Nguyen, Hung Phuoc (University of Antwerp) ;
Van Mossevelde, Sara (Antwerp University Hospital (UZA)) ;
Baets, Jonathan (VIB-UAntwerp Center for Molecular Neurology) ;
De Jonghe, Peter (VIB-UAntwerp Center for Molecular Neurology) ;
Engelborghs, Sebastiaan (Hospital Network Antwerp (ZNA)) ;
De Deyn, Peter Paul (Hospital Network Antwerp (ZNA)) ;
Vandenbulcke, Mathieu (University Hospitals Leuven (Bèlgica)) ;
Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ;
Van Damme, Philip (VIB) ;
Cras, Patrick (Antwerp University Hospital (UZA)) ;
Salmon, Eric (University of Liege and Memory Clinic) ;
Synofzik, Matthis (German Center for Neurodegenerative Diseases (DZNE)) ;
Heutink, Peter (German Center for Neurodegenerative Diseases (DZNE)) ;
Wilke, Carlo (German Center for Neurodegenerative Diseases (DZNE)) ;
Simón Sánchez, Javier (German Center for Neurodegenerative Diseases (DZNE)) ;
Rojas-Garcia, Ricard (Institut d'Investigació Biomèdica Sant Pau) ;
Turon-Sans, Janina (Institut d'Investigació Biomèdica Sant Pau) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ;
Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Borroni, Barbara (University of Brescia) ;
Padovani, Alessandro (University of Brescia) ;
Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Diez-Fairen, Monica (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Aguilar, Miquel Chávez (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Gelpi, Ellen (Hospital Clínic i Provincial de Barcelona) ;
Sanchez-Valle, Raquel (Hospital Clínic i Provincial de Barcelona) ;
Borrego-Écija, Sergi (Hospital Clínic i Provincial de Barcelona) ;
Matej, Radoslav (Charles University) ;
Parobkova, Eva (Charles University) ;
Nacmias, Benedetta (University of Florence) ;
Sorbi, Sandro (IRCCS Don Gnocchi) ;
Bagnoli, Silvia (University of Florence) ;
de Mendonça, Alexandre (University of Lisbon) ;
Ferreira, Catarina B. (University of Lisbon) ;
Fraidakis, Matthew Joseph (NeuroRARE Centre for Rare and Genetic Neurological & Neuromuscular Diseases & Neurogenetics) ;
Diehl-Schmid, Janine (Technische Universität München) ;
Alexopoulos, Panagiotis (Technische Universität München) ;
Almeida, Maria (University of Coimbra) ;
Santana, Isabel (University of Coimbra) ;
Van Broeckhoven, Christine (University of Antwerp) ;
Van der Zee, Julie (University of Antwerp) ;
Goeman, Johan (BELNEU Consortium) ;
Nuytten, Dirk (BELNEU Consortium) ;
Sieben, Anne (BELNEU Consortium) ;
De Bleecker, Jan L. (BELNEU Consortium) ;
Santens, Patrick (BELNEU Consortium) ;
Versijpt, Jan (BELNEU Consortium) ;
Michotte, Alex (BELNEU Consortium) ;
Ivanoiu, Adrian (BELNEU Consortium) ;
Deryck, Olivier (BELNEU Consortium) ;
Bergmans, Bruno (BELNEU Consortium) ;
Willems, Christiana (BELNEU Consortium) ;
De Klippel, Nina (BELNEU Consortium) ;
Peeters, Dirk (BELNEU Consortium) ;
Archettim, Silvana (EU EOD Consortium) ;
Bonomi, Elisa (EU EOD Consortium) ;
Piaceri, Irene (EU EOD Consortium) ;
Ferrari, Camilla (EU EOD Consortium) ;
Simões do Couto, Federico (EU EOD Consortium) ;
Verdelho, Ana (EU EOD Consortium) ;
Miltenberger-Miltényi, Gabriel (EU EOD Consortium) ;
Universitat Autònoma de Barcelona
We evaluated the genetic contribution of the T cell-restricted intracellular antigen-1 gene (TIA1) in a European cohort of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) patients. [...]
2018 - 10.1016/j.neurobiolaging.2018.05.005
Neurobiology of Aging, Vol. 69 (september 2018) , p. 293.e9-293.e11
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12 p, 1.2 MB |
Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis
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Gao, Yixin (Xuzhou Medical University) ;
Wang, Ting (Xuzhou Medical University) ;
Yu, Xinghao (Xuzhou Medical University) ;
Ferrari, Raffaele (Russell Square House) ;
Hernandez, Dena G. (Queen Square) ;
Nalls, Michael A. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ;
Rohrer, Jonathan D. (Queen Square) ;
Ramasamy, Adaikalavan (University of Oxford) ;
Kwok, John B.J. (University of New South Wales) ;
Dobson-Stone, Carol (University of New South Wales) ;
Brooks, William S. (University of New South Wales) ;
Schofield, Peter R. (Neuroscience Research Australia) ;
Halliday, Glenda M. (Neuroscience Research Australia) ;
Hodges, John R. (Neuroscience Research Australia) ;
Piguet, Olivier (Neuroscience Research Australia) ;
Bartley, Lauren (Neuroscience Research Australia) ;
Thompson, Elizabeth (University of Adelaide) ;
Haan, Eric (University of Adelaide) ;
Hernández, Isabel (Institut Català de Neurociéncies Aplicades) ;
Ruiz, Agustín (Institut Català de Neurociéncies Aplicades) ;
Boada, Mercè (Institut Català de Neurociéncies Aplicades) ;
Borroni, Barbara (University of Brescia) ;
Padovani, Alessandro (University of Brescia) ;
Cruchaga, Carlos (Washington University School of Medicine) ;
Cairns, Nigel J. (Washington University) ;
Benussi, Luisa (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Binetti, Giuliano (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Ghidoni, Roberta (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Forloni, Gianluigi (IRCCS Istituto di Ricerche Farmacologiche. "Mario Negri") ;
Albani, Diego (IRCCS Istituto di Ricerche Farmacologiche. "Mario Negri") ;
Galimberti, Daniela (IRCCS Ospedale Maggiore Policlinico) ;
Fenoglio, Chiara (IRCCS Ospedale Maggiore Policlinico) ;
Serpente, Maria (IRCCS Ospedale Maggiore Policlinico) ;
Scarpini, Elio (University of Milan) ;
Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ;
Waldö, Maria Landqvist (Lund University) ;
Nilsson, Karin (Lund University) ;
Nilsson, Christer (Lund University) ;
Mackenzie, Ian R.A. (University of British Columbia) ;
Hsiung, Ging-Yuek R. (University of British Columbia) ;
Mann, David M. A. (Salford Royal Hospital) ;
Grafman, Jordan (Northwestern University) ;
Morris, Christopher M. (Newcastle University) ;
Attems, Johannes (Newcastle University) ;
Griffiths, Timothy D. (Newcastle University Medical School) ;
McKeith, Ian G. (Newcastle University) ;
Thomas, Alan J. (Newcastle University) ;
Pietrini, Pietro (IMT School for Advanced Studies) ;
Huey, Edward D. (Columbia University) ;
Wassermann, Eric M. (National Insititutes of Health) ;
Baborie, Atik (University of Alberta Edmonton) ;
Jaros, Evelyn (Newcastle University) ;
Tierney, Michael C. (National Insititutes of Health) ;
Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Razquin, Cristina (Universidad de Navarra) ;
Ortega-Cubero, Sara (Universidad de Navarra) ;
Alonso, Elena (Universidad de Navarra) ;
Perneczky, Robert (West London Mental Health Trust) ;
Diehl-Schmid, Janine (Technische Universität München) ;
Alexopoulos, Panagiotis (Technische Universität München) ;
Kurz, Alexander (Technische Universität München) ;
Rainero, Innocenzo (A.O. Città della Salute e della Scienza di Torino) ;
Rubino, Elisa (A.O. Città della Salute e della Scienza di Torino) ;
Pinessi, Lorenzo (A.O. Città della Salute e della Scienza di Torino) ;
Rogaeva, Ekaterina (University of Toronto) ;
St George Hyslop, Peter (University of Cambridge) ;
Rossi, Giacomina (Fondazione IRCCS Istituto Neurologico Carlo Besta) ;
Tagliavini, Fabrizio (Fondazione IRCCS Istituto Neurologico Carlo Besta) ;
Giaccone, Giorgio (Fondazione IRCCS Istituto Neurologico Carlo Besta) ;
Rowe, James B. (Behavioural and Clinical Neuroscience Institute) ;
Schlachetzki, Johannes C. M. (University of California San Diego) ;
Uphill, James (University College London. Institute of Neurology) ;
Collinge, John (University College London. Institute of Neurology) ;
Mead, Simon (University College London. Institute of Neurology) ;
Danek, Adrian (German Center for Neurodegenerative Diseases (DZNE)) ;
Van Deerlin, Vivianna M. (University of Pennsylvania Perelman School of Medicine) ;
Grossman, Murray (University of Pennsylvania Perelman School of Medicine) ;
Trojanowski, John Q. (University of Pennsylvania Perelman School of Medicine) ;
van der Zee, Julie (University of Antwerp) ;
Cruts, Marc (University of Antwerp) ;
Van Broeckhoven, Christine (University of Antwerp) ;
Cappa, Stefano F. (Vita-Salute University and San Raffaele Scientific Institute) ;
Leber, Isabelle (CNRS UMR 7225) ;
Hannequin, Didier (Rouen University Hospital (França)) ;
Golfier, Véronique (CH Saint Brieuc) ;
Vercelletto, Martine (CHU Nantes) ;
Brice, Alexis (AP-HP. Hôpital de la Salpêtrière) ;
Nacmias, Benedetta (University of Florence) ;
Sorbi, Sandro (University of Florence and IRCCS "Don Carlo Gnocchi" Firenze) ;
Bagnoli, Silvia (University of Florence) ;
Piaceri, Irene (University of Florence) ;
Nielsen, Jørgen E. (Copenhagen University Hospital) ;
Hjermind, Lena E. (University of Copenhagen) ;
Riemenschneider, Matthias (Saarland University) ;
Mayhaus, Manuel (Saarland University) ;
Ibach, Bernd (University Regensburg) ;
Gasparoni, Gilles (Saarland University) ;
Pichler, Sabrina (Saarland University) ;
Gu, Wei (University of Luxembourg) ;
Rossor, Martin N. (Queen Square) ;
Fox, Nick C. (University College London Queen Square Institute of Neurology. Dementia Research Centre) ;
Warren, Jason D. (Queen Square) ;
Spillantini, Maria Grazia (University of Cambridge) ;
Morris, Huw R. (Russell Square House) ;
Rizzu, Patrizia (German Center for Neurodegenerative Diseases-Tübingen) ;
Heutink, Peter (German Center for Neurodegenerative Diseases-Tübingen) ;
Snowden, Julie S. (University of Manchester) ;
Rollinson, Sara (University of Manchester) ;
Richardson, Anna (University of Manchester) ;
Gerhard, Alexander (The University of Manchester) ;
Bruni, Amalia C. (ASPCZ) ;
Maletta, Raffaele (ASPCZ) ;
Frangipane, Francesca (ASPCZ) ;
Cupidi, Chiara (ASPCZ) ;
Bernardi, Livia (ASPCZ) ;
Anfossi, Maria (ASPCZ) ;
Gallo, Maura (ASPCZ) ;
Conidi, Maria Elena (ASPCZ) ;
Smirne, Nicoletta (ASPCZ) ;
Rademakers, Rosa (Mayo Clinic Jacksonville) ;
Baker, Matt (Mayo Clinic Jacksonville) ;
Dickson, Dennis W. (Mayo Clinic Jacksonville) ;
Graff-Radford, Neill R. (Mayo Clinic Jacksonville) ;
Petersen, Ronald C. (Mayo Clinic Rochester) ;
Knopman, David (Mayo Clinic Rochester) ;
Josephs, Keith A. (Mayo Clinic Rochester) ;
Boeve, Bradley (Mayo Clinic Rochester) ;
Parisi, Joseph E. (Mayo Clinic Rochester) ;
Seeley, William W. (University of California) ;
Miller, Bruce L. (University of California) ;
Karydas, Anna M. (University of California) ;
Rosen, Howard (University of California) ;
van Swieten, John C. (VU University Medical Centre) ;
Dopper, Elise G. P. (Erasmus Medical Centre) ;
Seelaar, Harro (Erasmus Medical Centre) ;
Pijnenburg, Yolande A. L. (VU University Medical Centre) ;
Scheltens, Philip (VU University Medical Centre) ;
Logroscino, Giancarlo (University of Bari) ;
Capozzo, Rosa (University of Bari) ;
Novelli, Valeria (Fondazione Policlinico Universitario A. Gemelli) ;
Puca, Annibale A. (University of Salerno) ;
Franceschi, Massimo (IRCCS Multimedica) ;
Postiglione, Alfredo (University of Naples Federico II) ;
Milan, Graziella (Geriatric Center Frullone- ASL Napoli 1 Centro) ;
Sorrentino, Paolo (Geriatric Center Frullone- ASL Napoli 1 Centro) ;
Kristiansen, Mark (Institute of Child Health (ICH)) ;
Chiang, Huei-Hsin (Karolinska University Hospital and Karolinska Institutet (Suecia)) ;
Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suecia)) ;
Pasquier, Florence (Univ Lille) ;
Rollin, Adeline (Univ Lille) ;
Deramecourt, Vincent (Univ Lille) ;
Lebouvier, Thibaud (Univ Lille) ;
Kapogiannis, Dimitrios (National Institute on Aging (NIA/NIH)) ;
Ferrucci, Luigi (National Institute on Aging (Baltimore, Estats Units d'Amèrica)) ;
Pickering-Brown, S. (University of Manchester) ;
Singleton, Andrew B. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ;
Hardy, John (Russell Square House) ;
Momeni, Parastoo (Texas Tech University Health Science Center) ;
Zhao, Huashuo (Xuzhou Medical University) ;
Zeng, Ping (Xuzhou Medical University) ;
Universitat Autònoma de Barcelona
We employed Mendelian randomization (MR) to evaluate the causal relationship between leukocyte telomere length (LTL) and amyotrophic lateral sclerosis (ALS) with summary statistics from genome-wide association studies (n = ~ 38,000 for LTL and ~ 81,000 for ALS in the European population; n = ~ 23,000 for LTL and ~ 4,100 for ALS in the Asian population). [...]
2020 - 10.1038/s41598-020-68848-9
Scientific reports, Vol. 10 Núm. 1 (january 2020) , p. 12184
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15 p, 570.6 KB |
C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts
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Costa, Beatrice ;
Manzoni, Claudia ;
Bernal-Quiros, Manuel ;
Kia, Demis A. ;
Aguilar Barberà, Miquel ;
Alvarez, Ignacio ;
Alvarez, Victoria ;
Andreassen, Ole A. ;
Anfossi, Maria ;
Bagnoli, Silvia ;
Benussi, Luisa ;
Bernardi, Livia ;
Binetti, Giuliano ;
Blackburn, Daniel ;
Boada, Mercè ;
Borroni, Barbara ;
Bowns, Lucy ;
Bråthen, Geir ;
Bruni, Amalia ;
Chiang, Huei-Hsin ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Colville, Shuna ;
Conidi, Maria E. ;
Cope, Tom E. ;
Cruchaga, Carlos ;
Cupidi, Chiara ;
Di Battista, Maria Elena ;
Diehl-Schmid, Janine ;
Diez-Fairen, Monica ;
Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ;
Durante, Elisabetta ;
Flisar, Dušan ;
Frangipane, Francesca ;
Galimberti, Daniela ;
Gallo, Maura ;
Gallucci, Maurizio ;
Ghidoni, Roberta ;
Graff, Caroline ;
Grafman, Jordan H. ;
Grossman, Murray ;
Hardy, John ;
Hernández, Isabel ;
Holloway, Guy J. T. ;
Huey, Edward D. ;
Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ;
Karydas, Anna ;
Khoshnood, Behzad ;
Kramberger, Milica G. ;
Kristiansen, Mark ;
Lewis, Patrick ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Madhan, Gaganjit K. ;
Maletta, Raffaele ;
Maver, Aleš ;
Menendez-Gonzalez, Manuel ;
Milan, Graziella ;
Miller, Bruce L. ;
Mol, Merel O. ;
Momeni, Parastoo ;
Moreno-Grau, Sonia ;
Morris, Chris M. ;
Nacmias, Benedetta ;
Nilsson, Christer ;
Novelli, Valeria ;
Öijerstedt, Linn ;
Padovani, Alessandro ;
Pal, Suvankar ;
Panchbhaya, Yasmin ;
Pastor, Pau ;
Peterlin, Borut ;
Piaceri, Irene ;
Pickering-Brown, S. ;
Pijnenburg, Yolande ;
Puca, Annibale A. ;
Rainero, Innocenzo ;
Rendina, Antonella ;
Richardson, Anna M. T. ;
Rogaeva, Ekaterina ;
Rogelj, Boris ;
Rollinson, Sara ;
Rossi, Giacomina ;
Rossmeier, Carola ;
Rowe, James B. ;
Rubino, Elisa ;
Ruiz, Agustín ;
Sanchez-Valle, Raquel ;
Sando, Sigrid B. ;
Santillo, Alexander F. ;
Saxon, Jennifer ;
Scarpini, Elio ;
Serpente, Maria ;
Smirne, Nicoletta ;
Sorbi, Sandro ;
Suh, EunRan ;
Tagliavini, Fabrizio ;
Thompson, Jennifer C. ;
Trojanowski, John Q. ;
Van Deerlin, Vivianna M. ;
Van der Zee, Julie ;
Van Broeckhoven, Christine ;
van Rooij, Jeroen ;
Van Swieten, John C. ;
Veronesi, Arianna ;
Vitale, Emilia ;
Waldö, Maria L. ;
Woodward, Cathy ;
Yokoyama, Jennifer ;
Escott-Price, Valentina ;
Polke, James M. ;
Ferrari, Raffaele ;
Universitat Autònoma de Barcelona
We sought to characterize C9orf72 expansions in relation to genetic ancestry and age at onset (AAO) and to use these measures to discriminate the behavioral from the language variant syndrome in a large pan-European cohort of frontotemporal lobar degeneration (FTLD) cases. [...]
2020 - 10.1212/WNL.0000000000010914
Neurology, Vol. 95 (december 2020) , p. e3288-e3302
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13 p, 722.8 KB |
A C6orf10 / LOC101929163 locus is associated with age of onset in C9orf72 carriers
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Zhang, Ming (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Ferrari, Raffaele (University College London. Institute of Neurology) ;
Tartaglia, Maria Carmela (Department of Medicine, Division of Neurology, University of Toronto, Toronto, ON, Canada) ;
Keith, Julia (Sunnybrook Health Sciences Centre, University of Toronto, Toronto, ON, Canada) ;
Surace, Ezequiel I (Instituto de Investigaciones Neurológicas Dr. Raúl Carrea (Buenos Aires, Argentina)) ;
Wolf, Uri (University of Toronto. Department of Psychiatry) ;
Sato, Christine (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Grinberg, Mark (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Liang, Yan (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Xi, Zhengrui (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Dupont, Kyle (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
McGoldrick, Philip (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Weichert, Anna (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
McKeever, Paul M. (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Schneider, Raphael (Sunnybrook Health Sciences Centre, University of Toronto, Toronto, ON, Canada) ;
McCorkindale, Michael D. (University College London. Institute of Neurology) ;
Manzoni, Claudia (School of Pharmacy, University of Reading, Whiteknights, Reading, UK) ;
Rademakers, Rosa (Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA) ;
Graff-Radford, Neill R. (Department of Neurology, Mayo Clinic, Jacksonville, FL, USA) ;
Dickson, Dennis W. (Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA) ;
Parisi, Joseph E. (Department of Laboratory Medicine and Pathology and Department of Neurology, Mayo Clinic, Rochester, MN, USA) ;
Boeve, Bradley (Department of Neurology, Mayo Clinic, Rochester, MN, USA) ;
Petersen, Ronald C. (Department of Neurology, Mayo Clinic, Rochester, MN, USA) ;
Miller, Bruce L. (Department of Neurology, University of California San Francisco Memory and Aging Center, San Francisco, CA, USA) ;
Seeley, William W. (Department of Neurology and Department of Pathology, University of California San Francisco Memory and Aging Center, San Francisco, CA, USA) ;
van Swieten, John C. (Department of Neurology, Erasmus MC, Rotterdam, The Netherlands) ;
van Rooij, Jeroen (Department of Neurology, Erasmus MC, Rotterdam, The Netherlands) ;
Pijnenburg, Yolande (Amsterdam UMC. University Medical Center) ;
van der Zee, Julie (Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ;
Van Broeckhoven, Christine (Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ;
Le Ber, Isabelle (Reference Center for Rare and Young Dementias, Institute of Memory and Alzheimer's Disease (IM2A), Department of Neurology, Hopital Pitié-Salpêtrière, Paris, France) ;
Van Deerlin, Vivianna (University of Pennsylvania) ;
Suh, EunRan (University of Pennsylvania) ;
Rohrer, Jonathan D. (University College London. Institute of Neurology) ;
Mead, Simon (University College London. Institute of Prion Diseases) ;
Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Öijerstedt, Linn (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Pickering-Brown, S. (Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, University of Manchester, UK) ;
Rollinson, Sara (Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, University of Manchester, UK) ;
Rossi, Giacomina (Division of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy) ;
Tagliavini, Fabrizio (Scientific Directorate, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy) ;
Brooks, William S. (Neuroscience Research Australia and Prince of Wales Clinical School, University of New South Wales, Sydney, Australia) ;
Dobson-Stone, Carol (School of Medical Sciences, University of New South Wales, Sydney, Australia) ;
Halliday, Glenda M. (University of Sydney. Brain and Mind Centre) ;
Hodges, John R. (Australian Research Council Centre of Excellence in Cognition and its Disorders, Sydney, Australia) ;
Piguet, Olivier (School of Psychology and Brain and Mind Centre, University of Sydney, Sydney, Australia) ;
Binetti, Giuliano (MAC Memory Center, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy) ;
Benussi, Luisa (Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy) ;
Ghidoni, Roberta (Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy) ;
Nacmias, Benedetta (Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy) ;
Sorbi, Sandro (IRCCS Don Gnocchi, Florence, Italy) ;
Bruni, Amalia (Regional Neurogenetic Centre, Lamezia Terme, Azienda Sanitaria Provinciale Catanzaro, Italy) ;
Galimberti, Daniela (Neurodegenerative Disease Unit, University of Milan, Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy) ;
Scarpini, Elio (Neurodegenerative Disease Unit, University of Milan, Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy) ;
Rainero, Innocenzo (Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy) ;
Rubino, Elisa (Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Lleó, Alberto (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Ruiz, Agustin (Institut Català de Neurociènces Aplicades) ;
Hernández, Isabel (Institut Català de Neurociènces Aplicades) ;
Pastor, Pau (Fundació per la Recerca Biomèdica i Social Mútua de Terrassa) ;
Diez-Fairen, Monica (Fundació per la Recerca Biomèdica i Social Mútua de Terrassa) ;
Borroni, Barbara (Centre for Neurodegenerative Disorders, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy) ;
Pasquier, Florence (Centre Hospitalier Régional Universitaire de Lille) ;
Deramecourt, Vincent (Centre Hospitalier Régional Universitaire de Lille) ;
Lebouvier, Thibaud (Centre Hospitalier Régional Universitaire de Lille) ;
Perneczky, Robert (Imperial College London. School of Public Health) ;
Diehl-Schmid, Janine (Technische Universität München) ;
Grafman, Jordan (Weinberg College of Arts and Sciences Northwestern University (Chicago, Estats Units d'Amèrica)) ;
Huey, Edward D. (The Taub Institute for Research on Alzheimer's Disease and the Aging Brain (Columbia, Estats Units d'Amèrica)) ;
Mayeux, Richard (The Gertrude H. Sergievsky Center, The Departments of Neurology, Psychiatry, Epidemiology, School of Public Health, Columbia University, New York, NY, USA) ;
Nalls, Michael A.. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ;
Hernandez, Dena (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ;
Singleton, Andrew B (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ;
Momeni, Parastoo (Rona Holdings, Silicon Valley, CA, USA) ;
Zeng, Zhen (Merck & Co., Inc, Kenilworth, NJ, USA) ;
Hardy, John (University College London. Institute of Neurology) ;
Robertson, Janice (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Zinman, Lorne (Sunnybrook Health Sciences Centre, University of Toronto, Toronto, ON, Canada) ;
Rogaeva, Ekaterina (Department of Medicine, Division of Neurology, University of Toronto, Toronto, ON, Canada)
Discovery of disease age-of-onset modifiers is important for clinical trials and drug design. Zhang et al. perform a genome-wide analysis of epigenetic functional polymorphisms and identify an association between the C6orf10/LOC101929163 locus and age of FTD/ALS onset. [...]
2018 - 10.1093/brain/awy238
Brain, Vol. 141 (september 2018) , p. 2895-2907
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Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia
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Bonham, Luke W. (University of California, San Francisco (UCSF)) ;
Steele, Natasha Z. R. (University of California, San Francisco (UCSF)) ;
Karch, Celeste M. (Department of Psychiatry. Washington University) ;
Broce, Iris (University of California, San Francisco (UCSF)) ;
Geier, Ethan G. (University of California, San Francisco (UCSF)) ;
Wen, Natalie L. (Department of Psychiatry. Washington University) ;
Momeni, Parastoo (Texas Tech University Health Science Center. Laboratory of Neurogenetics) ;
Hardy, John (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ;
Miller, Zachary A. (University of California, San Francisco (UCSF)) ;
Gorno-Tempini, Maria Luisa (University of California, San Francisco (UCSF)) ;
Hess, Christopher P. (University of California, San Francisco (UCSF)) ;
Lewis, Patrick (School of Pharmacy. University of Reading. Whiteknights) ;
Miller, Bruce L. (University of California, San Francisco (UCSF)) ;
Seeley, William W. (University of California, San Francisco (UCSF)) ;
Manzoni, Claudia (School of Pharmacy. University of Reading. Whiteknights) ;
Desikan, Rahul S. (University of California, San Francisco (UCSF)) ;
Baranzini, Sergio E. (University of California, San Francisco (UCSF)) ;
Ferrari, Raffaele (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ;
Yokoyama, Jennifer S. (University of California, San Francisco (UCSF)) ;
Hernandez, D. G. (UCL Institute of Neurology (Regne Unit)) ;
Nalls, M. A. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ;
Rohrer, J. D. (Dementia Research Centre. Department of Neurodegenerative Disease. UCL Institute of Neurology) ;
Ramasamy, Adaikalavan (The Jenner Institute. University of Oxford) ;
Kwok, J. B. J. (School of Medical Sciences. University of New South Wales) ;
Dobson-Stone, Carol (School of Medical Sciences. University of New South Wales) ;
Schofield, P. R. (School of Medical Sciences. University of New South Wales) ;
Halliday, G. M. (School of Medical Sciences. University of New South Wales) ;
Hodges, J. R. (School of Medical Sciences. University of New South Wales) ;
Piguet, O. (School of Medical Sciences. University of New South Wales) ;
Bartley, L. (School of Medical Sciences. University of New South Wales) ;
Thompson, E. (Department of Paediatrics. University of Adelaide) ;
Haan, E. (Department of Paediatrics. University of Adelaide) ;
Hernández, Isabel (Institut Català de Neurociènces Aplicades) ;
Ruiz, A. (Institut Català de Neurociènces Aplicades) ;
Boada, Mercè (Institut Català de Neurociènces Aplicades) ;
Borroni, Barbara (Neurology Clinic. University of Brescia) ;
Padovani, Alessandro (Neurology Clinic. University of Brescia) ;
Cruchaga, Carlos (Hope Center. Washington University School of Medicine) ;
Cairns, Nigel J (Department of Pathology and Immunology. Washington University) ;
Benussi, Luisa (Molecular Markers Laboratory. IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Binetti, Giuliano (MAC Memory Clinic. IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Ghidoni, R. (Molecular Markers Laboratory. IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Forloni, G. (Biology of Neurodegenerative Disorders. IRCCS Istituto di Ricerche Farmacologiche "Mario Negri") ;
Albani, Diego (Biology of Neurodegenerative Disorders. IRCCS Istituto di Ricerche Farmacologiche "Mario Negri") ;
Galimberti, Daniela (Fondazione Cà Granda. IRCCS Ospedale Maggiore Policlinico) ;
Fenoglio, Chiara (Fondazione Cà Granda. IRCCS Ospedale Maggiore Policlinico) ;
Serpente, M. (Fondazione Cà Granda. IRCCS Ospedale Maggiore Policlinico) ;
Scarpini, E. (Fondazione Cà Granda. IRCCS Ospedale Maggiore Policlinico) ;
Clarimón, Jordi (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Lleó, Alberto (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Blesa, Rafael (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Landqvist Waldö, M. (Unit of Geriatric Psychiatry. Department of Clinical Sciences. Lund University) ;
Nilsson, K. (Unit of Geriatric Psychiatry. Department of Clinical Sciences. Lund University) ;
Nilsson, C. (Clinical Memory Research Unit. Department of Clinical Sciences. Lund University) ;
Mackenzie, I. R. A. (Department of Pathology and Laboratory Medicine. University of British Columbia) ;
Hsiung, G. Y. R. (Division of Neurology. University of British Columbia) ;
Mann, D. M. A. (Institute of Brain. Behaviour and Mental Health. University of Manchester. Salford Royal Hospital) ;
Grafman, J. (Department of Psychology. Weinberg College of Arts and Sciences. Northwestern University) ;
Morris, C. M. (Newcastle University. Institute of Neuroscience and Institute for Ageing) ;
Attems, Johannes (Newcastle University. Institute of Neuroscience and Institute for Ageing) ;
Griffiths, T. D. (Newcastle University. Institute of Neuroscience and Institute for Ageing) ;
McKeith, I. G. (Newcastle University. Institute of Neuroscience and Institute for Ageing) ;
Thomas, A. J. (Newcastle University. Institute of Neuroscience and Institute for Ageing) ;
Pietrini, P. (IMT School for Advanced Studies. Lucca) ;
Huey, Edward D (Taub Institute. Departments of Psychiatry and Neurology. Columbia University) ;
Wassermann, E. M. (Behavioral Neurology Unit. National Insititute of Neurological Disorders and Stroke. National Insititutes of Health) ;
Baborie, A. (Department of Laboratory Medicine & Pathology. University of Alberta Edmonton) ;
Jaros, E. (Institute of Neuroscience and Institute for Ageing. Campus for Ageing and Vitality. Newcastle University) ;
Tierney, M. C. (Behavioral Neurology Unit. National Insititute of Neurological Disorders and Stroke. National Insititutes of Health) ;
Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Razquin, C. (Neurogenetics Laboratory. Division of Neurosciences. Center for Applied Medical Research. Universidad de Navarra) ;
Ortega-Cubero, S. (Neurogenetics Laboratory. Division of Neurosciences. Center for Applied Medical Research. Universidad de Navarra) ;
Alonso, E. (Clínica Universidad de Navarra) ;
Perneczky, Robert (Department of Psychiatry and Psychotherapy. Technische Universität München) ;
Diehl-Schmid, Janine (Department of Psychiatry and Psychotherapy. Technische Universität München) ;
Alexopoulos, Panagiotis (Department of Psychiatry and Psychotherapy. Technische Universität München) ;
Kurz, A. (Department of Psychiatry and Psychotherapy. Technische Universität München) ;
Rainero, Innocenzo (Neurology I. Department of Neuroscience. University of Torino. Italy. A.O. Città della Salute e della Scienza di Torino) ;
Rubino, E. (Neurology I. Department of Neuroscience. University of Torino. Italy. A.O. Città della Salute e della Scienza di Torino) ;
Pinessi, L. (Neurology I. Department of Neuroscience. University of Torino. Italy. A.O. Città della Salute e della Scienza di Torino) ;
Rogaeva, Ekaterina (University of Toronto. Tanz Centre for Research in Neurodegenerative Diseases) ;
St George Hyslop, Peter (Cambridge Institute for Medical Research) ;
Rossi, G. (Fondazione IRCCS Istituto Neurologico Carlo Besta) ;
Tagliavini, Fabrizio (Fondazione IRCCS Istituto Neurologico Carlo Besta) ;
Giaccone, Giorgio (Fondazione IRCCS Istituto Neurologico Carlo Besta) ;
Rowe, J. B. (Behavioural and Clinical Neuroscience Institute) ;
Schlachetzki, J. C. M. (University of California San Diego. Department of Cellular & Molecular Medicine) ;
Uphill, J. (UCL Institute of Neurology (Regne Unit). Department of Neurodegenerative Disease) ;
Collinge, John (UCL Institute of Neurology (Regne Unit). Department of Neurodegenerative Disease) ;
Mead, S. (UCL Institute of Neurology (Regne Unit). Department of Neurodegenerative Disease) ;
Danek, Adrian (Ludwig-Maximilians-Universität München) ;
Van Deerlin, V. M. (University of Pennsylvania Perelman School of Medicine) ;
Grossman, Murray (Department of Neurology and Penn Frontotemporal Degeneration Center. University of Pennsylvania Perelman School of Medicine) ;
Trojanowski, J. Q. (Laboratory of Neurogenetics. Institute Born-Bunge. University of Antwerp) ;
Van der Zee, Julie (Laboratory of Neurogenetics. Institute Born-Bunge. University of Antwerp) ;
Cruts, Marc (Laboratory of Neurogenetics. Institute Born-Bunge. University of Antwerp) ;
Van Broeckhoven, C. (Laboratory of Neurogenetics. Institute Born-Bunge. University of Antwerp) ;
Cappa, S. F. (Neurorehabilitation Unit. Department of Clinical Neuroscience. Vita-Salute University and San Raffaele Scientific Institute) ;
Leber, Isabelle (CNRS UMR 7225. F-75013) ;
Hannequin, D. (Service de Neurologie. Inserm U1079. CNR-MAJ. Rouen University Hospital) ;
Golfier, V. (Service de Neurologie. CH Saint Brieuc) ;
Vercelletto, M. (Service de neurologie. CHU de Nantes) ;
Brice, Alexis (CNRS UMR 7225. F-75013) ;
Nacmias, Benedetta (University of Florence. Department of Neurosciences) ;
Sorbi, Sandro (University of Florence. Department of Neurosciences) ;
Bagnoli, Silvia (University of Florence. Department of Neurosciences) ;
Piaceri, I. (University of Florence. Department of Neurosciences) ;
Nielsen, J. E. (Department of Cellular and Molecular Medicine. Section of Neurogenetics. The Panum Institute. University of Copenhagen) ;
Hjermind, L. E. (Department of Cellular and Molecular Medicine. Section of Neurogenetics. The Panum Institute. University of Copenhagen) ;
Riemenschneider, M. (Laboratory for Neurogenetics. Saarland University) ;
Mayhaus, M. (Laboratory for Neurogenetics. Saarland University) ;
Ibach, B. (Department of Psychiatry. Psychotherapy and Psychosomatics) ;
Gasparoni, G. (Laboratory for Neurogenetics. Saarland University) ;
Pichler, S. (Laboratory for Neurogenetics. Saarland University) ;
Gu, W. (Luxembourg Centre For Systems Biomedicine (LCSB). University of Luxembourg) ;
Rossor, M. N. (Dementia Research Centre. Department of Neurodegenerative Disease. UCL Institute of Neurology) ;
Fox, N. C. (Dementia Research Centre. Department of Neurodegenerative Disease. UCL Institute of Neurology) ;
Warren, J. D. (Dementia Research Centre. Department of Neurodegenerative Disease. UCL Institute of Neurology) ;
Spillantini, M. G. (University of Cambridge. Department of Clinical Neurosciences) ;
Morris, H. R. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ;
Rizzu, P. (Tübingen Site. German Center for Neurodegenerative Diseases) ;
Heutink, Peter (Tübingen Site. German Center for Neurodegenerative Diseases) ;
Snowden, J. S. (Institute of Brain. Behaviour and Mental Health. University of Manchester. Salford Royal Hospital) ;
Rollinson, Sara (Institute of Brain. Behaviour and Mental Health. University of Manchester. Salford Royal Hospital) ;
Richardson, A. (Salford Royal Foundation Trust. Faculty of Medical and Human Sciences. University of Manchester) ;
Gerhard, A. (Institute of Brain. Behaviour and Mental Health. University of Manchester. Salford Royal Hospital) ;
Bruni, A. C. (Regional Neurogenetic Centre. ASPCZ) ;
Maletta, Raffaele (Regional Neurogenetic Centre. ASPCZ) ;
Frangipane, F. (Regional Neurogenetic Centre. ASPCZ) ;
Cupidi, C. (Regional Neurogenetic Centre. ASPCZ) ;
Bernardi, Livia (Regional Neurogenetic Centre. ASPCZ) ;
Anfossi, Maria (Regional Neurogenetic Centre. ASPCZ) ;
Gallo, M. (Regional Neurogenetic Centre. ASPCZ) ;
Conidi, Maria E. (Regional Neurogenetic Centre. ASPCZ) ;
Smirne, N. (Regional Neurogenetic Centre. ASPCZ) ;
Rademakers, Rosa (Department of Neuroscience. Mayo Clinic Jacksonville) ;
Baker, M. (Department of Neuroscience. Mayo Clinic Jacksonville) ;
Dickson, Dennis W. (Department of Neuroscience. Mayo Clinic Jacksonville) ;
Graff-Radford, N. R. (Department of Neuroscience. Mayo Clinic Jacksonville) ;
Petersen, R. C. (Department of Neurology. Mayo Clinic Rochester) ;
Knopman, D. (Department of Neurology. Mayo Clinic Rochester) ;
Josephs, K. A. (Department of Neurology. Mayo Clinic Rochester) ;
Boeve, Bradley (Department of Neurology. Mayo Clinic Rochester) ;
Parisi, J. E. (Department of Pathology. Mayo Clinic Rochester) ;
Karydas, A. M. (University of California, San Francisco (UCSF)) ;
Rosen, H. (University of California, San Francisco (UCSF)) ;
van Swieten, J. C. (Department of Medical Genetics. VU university Medical Centre) ;
Dopper, E. G. P. (Department of Medical Genetics. VU university Medical Centre) ;
Seelaar, H. (Department of Medical Genetics. VU university Medical Centre) ;
Pijnenburg, Y. A. L. (VU University Medical Centre. Department of Neurology) ;
Scheltens, Philip (VU University Medical Centre. Department of Neurology) ;
Logroscino, Giancarlo (Department of Basic Medical Sciences. Neurosciences and Sense Organs. "Aldo Moro" University of Bari) ;
Capozzo, Rosa (University of Bari) ;
Novelli, V. (Medical Genetics Unit. Fondazione Policlinico Universitario A. Gemelli) ;
Puca, A. A. (Department of Medicine and Surgery. University of Salerno) ;
Franceschi, M. (Neurology Department. IRCCS Multimedica) ;
Postiglione, A. (Department of Clinical Medicine and Surgery. University of Naples Federico II) ;
Milan, G. (Geriatric Center Frullone ASL Napoli 1 Centro) ;
Sorrentino, P. (Geriatric Center Frullone ASL Napoli 1 Centro) ;
Kristiansen, M. (UCL Genomics. Institute of Child Health (ICH). UCL) ;
Chiang, H. H. (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Graff, C. (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Pasquier, Florence (Université des Sciences et Technologies de Lille. Inserm 1171. DISTALZ. CHU 59000) ;
Rollin, A. (Université des Sciences et Technologies de Lille. Inserm 1171. DISTALZ. CHU 59000) ;
Deramecourt, Vincent (Université des Sciences et Technologies de Lille. Inserm 1171. DISTALZ. CHU 59000) ;
Lebouvier, Thibaud (Université des Sciences et Technologies de Lille. Inserm 1171. DISTALZ. CHU 59000) ;
Kapogiannis, D. (National Institute on Aging (NIA/NIH)) ;
Ferrucci, Luigi (National Institute on Aging (Baltimore, Estats Units d'Amèrica)) ;
Pickering-Brown, S. (University of Manchester) ;
Singleton, Andrew B (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ;
Universitat Autònoma de Barcelona
The semantic variant of primary progressive aphasia (svPPA) is a clinical syndrome characterized by neurodegeneration and progressive loss of semantic knowledge. Unlike many other forms of frontotemporal lobar degeneration (FTLD), svPPA has a highly consistent underlying pathology composed of TDP-43 (a regulator of RNA and DNA transcription metabolism). [...]
2019 - 10.1038/s41598-019-46415-1
Scientific reports, Vol. 9 Núm. 1 (january 2019) , p. 10854
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Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease
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De Roeck, Arne (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
Van den Bossche, Tobi (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
van der Zee, Julie (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
Verheijen, Jan (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
De Coster, Wouter (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
Van Dongen, Jasper (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
Dillen, Lubina (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
Baradaran-Heravi, Yalda (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
Heeman, Bavo (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
Sanchez-Valle, Raquel (Hospital Clínic i Provincial de Barcelona) ;
Llado Plarrumani, Albert (Hospital Clínic i Provincial de Barcelona) ;
Nacmias, Benedetta (University of Florence) ;
Sorbi, Sandro (University of Florence) ;
Gelpi, Ellen (Hospital Clínic i Provincial de Barcelona) ;
Grau-Rivera, Oriol (Hospital Clínic i Provincial de Barcelona) ;
Gómez-Tortosa, Estrella (Hospital Universitario Fundación Jiménez Díaz) ;
Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Ortega-Cubero, Sara (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Pastor, Maria A. (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Graff, Caroline (Karolinska Institutet (Estocolm, Suècia). Center for Alzheimer Research) ;
Thonberg, Håkan (Karolinska Institutet (Estocolm, Suècia). Center for Alzheimer Research) ;
Benussi, Luisa (Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy) ;
Ghidoni, Roberta (Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy) ;
Binetti, Giuliano (Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy) ;
de Mendonça, Alexandre (University of Lisbon, Portugal) ;
Martins, Madalena (University of Lisbon, Portugal) ;
Borroni, Barbara (Centre for Neurodegenerative Disorders, University of Brescia, Italy.) ;
Padovani, Alessandro (Centre for Neurodegenerative Disorders, University of Brescia, Brescia, Italy) ;
Almeida, Maria Rosário (Center for Neuroscience and Cell Biology, University of Coimbra, Portugal) ;
Santana, Isabel (University of Coimbra) ;
Diehl-Schmid, Janine (Technische Universität München) ;
Alexopoulos, Panagiotis (Technische Universität München) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Lleó, Alberto (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Fortea, Juan (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Tsolaki, Magda (Aristotle University of Thessaloniki) ;
Koutroumani, Maria (Aristotle University of Thessaloniki) ;
Matej, Radoslav (Charles University, Prague, Czech Republic) ;
Rohan, Zdenek (Charles University, Prague, Czech Republic) ;
De Deyn, Peter Paul (Institute Born-Bunge, University of Antwerp, Belgium) ;
Engelborghs, Sebastiaan (Institute Born-Bunge, University of Antwerp, Belgium) ;
Cras, Patrick (Institute Born-Bunge, University of Antwerp, Belgium) ;
Van Broeckhoven, Christine (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
Sleegers, Kristel (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
Universitat Autònoma de Barcelona
Premature termination codon (PTC) mutations in the ATP-Binding Cassette, Sub-Family A, Member 7 gene (ABCA7) have recently been identified as intermediate-to-high penetrant risk factor for late-onset Alzheimer's disease (LOAD). [...]
2017 - 10.1007/s00401-017-1714-x
Acta Neuropathologica, Vol. 134 (april 2017) , p. 475-487
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9.
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13 p, 955.5 KB |
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
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van der Zee, Julie (University of Antwerp) ;
Gijselinck, Ilse (University of Antwerp) ;
Van Mossevelde, Sara (University Hospital Antwerp (Bèlgica)) ;
Perrone, Federica (University of Antwerp) ;
Dillen, Lubina (University of Antwerp) ;
Heeman, Bavo (University of Antwerp) ;
Bäumer, Veerle (University of Antwerp) ;
Engelborghs, Sebastiaan (University Hospital Antwerp (Bèlgica)) ;
De Bleecker, Jan (Universitair Ziekenhuis Gent) ;
Baets, Jonathan (University Hospital Antwerp (Bèlgica)) ;
Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Rojas-Garcia, Ricard (Universitat Autònoma de Barcelona) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Lleó Bisa, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Diehl-Schmid, Janine (Technische Universität München) ;
Alexopoulos, Panagiotis (Technische Universität München) ;
Perneczky, Robert (West London Mental Health Trust) ;
Synofzik, Matthis (German Research Center for Neurodegenerative Diseases (DZNE)) ;
Just, Jennifer (German Research Center for Neurodegenerative Diseases (DZNE)) ;
Schöls, Ludger (German Research Center for Neurodegenerative Diseases (DZNE)) ;
Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Thonberg, Håkan (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Borroni, Barbara (University of Brescia) ;
Padovani, Alessandro (University of Brescia) ;
Jordanova, Albena (Medical University-Sofia) ;
Sarafov, Stayko (Medical University-Sofia) ;
Tournev, Ivailo (New Bulgarian University) ;
de Mendonça, Alexandre (University of Lisbon) ;
Miltenberger-Miltényi, Gabriel (University of Lisbon) ;
Simões do Couto, Frederico (University of Lisbon) ;
Ramirez, Alfredo (University of Cologne) ;
Jessen, Frank (German Center for Neurodegenerative Diseases (DZNE)) ;
Heneka, Michael T. (University of Bonn) ;
Gómez-Tortosa, Estrella (Hospital Universitario Fundación Jiménez Díaz) ;
Danek, Adrian (German Center for Neurodegenerative Diseases (DZNE)) ;
Cras, Patrick (University Hospital Antwerp (Bèlgica)) ;
Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ;
De Jonghe, Peter (University Hospital Antwerp (Bèlgica)) ;
De Deyn, Peter Paul (University Hospital Antwerp (Bèlgica)) ;
Sleegers, Kristel (University of Antwerp) ;
Cruts, Marc (University of Antwerp) ;
Van Broeckhoven, Christine (University of Antwerp) ;
Goeman, Johan (University Hospital Antwerp (Bèlgica)) ;
Nuytten, Dirk (University Hospital Antwerp (Bèlgica)) ;
Smets, Katrien (University Hospital Antwerp (Bèlgica)) ;
Robberecht, Wim (University Hospitals Gasthuisberg (Leuven, Bélgica)) ;
Damme, Philip Van (University Hospitals Gasthuisberg (Leuven, Bélgica)) ;
Bleecker, Jan De (Universitair Ziekenhuis Gent) ;
Santens, Patrick (Universitair Ziekenhuis Gent) ;
Dermaut, Bart (Universitair Ziekenhuis Gent) ;
Versijpt, Jan (University Hospital Brussels) ;
Michotte, Alex (University Hospital Brussels) ;
Ivanoiu, Adrian (Saint-Luc University Hospital) ;
Deryck, Olivier (General Hospital Sint-Jan Brugge) ;
Bergmans, Bruno (General Hospital Sint-Jan Brugge) ;
Delbeck, Jean (General Hospital Sint-Maria) ;
Bruyland, Marc (General Hospital Glorieux Ronse) ;
Willems, Christiana (Jessa Hospital) ;
Salmon, Eric (University of Liège and Memory Clinic) ;
Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Ortega-Cubero, Sara (Deparment of Neurology, Complejo Asistencial Universitario de Palencia) ;
Benussi, Luisa (Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Ghidoni, Roberta (Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Binetti, Giuliano (MAC Memory Center and Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Hernández, Isabel (Institut Català de Neurociènces Aplicades) ;
Boada, Mercè (Institut Català de Neurociènces Aplicades) ;
Ruiz Laza, Agustín (Institut Català de Neurociènces Aplicades) ;
Sorbi, Sandro (Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence) ;
Nacmias, Benedetta (Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence) ;
Bagnoli, Silvia (Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence) ;
Sorbi, Sandro (IRCCS Don Carlo Gnocchi Scandicci) ;
Sánchez Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Llado Plarrumani, Albert (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Santana, Isabel (University of Coimbra) ;
Rosário Almeida, Maria (University of Coimbra) ;
Frisoni, Giovanni B. (Hôpitaux Universitaires de Genève et Université de Genève, Genève, Switzerland and IRCCS Fatebenefratelli) ;
Maetzler, Walter (Hertie Institute for Clinical Brain Research) ;
Matej, Radoslav (Charles University. Faculty of Medicine in Hradec Králové) ;
Fraidakis, Matthew J. (NeuroRARE Centre for Rare and Genetic Neurological & Neuromuscular Diseases & Neurogenetics) ;
Kovacs, Gabor G. (Medical University of Vienna) ;
Fabrizi, Gian Maria (University of Verona) ;
Testi, Silvia (University of Verona) ;
Universitat Autònoma de Barcelona
We investigated the mutation spectrum of the TANK-Binding Kinase 1 (TBK1) gene and its associated phenotypic spectrum by exonic resequencing of TBK1 in a cohort of 2,538 patients with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), or FTD plus ALS, ascertained within the European Early-Onset Dementia Consortium. [...]
2017 - 10.1002/humu.23161
Human mutation, Vol. 38, Issue 3 (March 2017) , p. 297-309
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12 p, 849.5 KB |
A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease
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Verheijen, Jan (University of Antwerp. Institute Born-Bunge) ;
Van den Bossche, Tobi (University Hospital Antwerp (Bèlgica)) ;
van der Zee, Julie (University of Antwerp. Institute Born-Bunge) ;
Engelborghs, Sebastiaan (University Hospital Antwerp (Bèlgica)) ;
Sánchez Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Llado Plarrumani, Albert (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Thonberg, Håkan (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Ortega-Cubero, Sara (Complejo Asistencial Universitario de Palencia. Departamento de Neurología) ;
Pastor, Maria A. (Clínica Universidad de Navarra) ;
Benussi, Luisa (Istituto Centro San Giovanni di Dio-Fatebenefratelli (Brescia, Itàlia)) ;
Ghidoni, Roberta (Istituto Centro San Giovanni di Dio-Fatebenefratelli (Brescia, Itàlia)) ;
Binetti, Giuliano (Istituto Centro San Giovanni di Dio-Fatebenefratelli (Brescia, Itàlia)) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Lleó Bisa, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ;
de Mendonça, Alexandre (University of Lisbon. Faculty of Medicine and Institute of Molecular Medicine) ;
Martins, Madalena (University of Lisbon. Faculty of Medicine and Institute of Molecular Medicine) ;
Grau-Rivera, Oriol (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Bettens, Karolien (University of Antwerp. Institute Born-Bunge) ;
Mateiu, Ligia (University of Antwerp. VIB) ;
Dillen, Lubina (University of Antwerp. Institute Born-Bunge) ;
Cras, Patrick (University Hospital Antwerp (Bèlgica)) ;
De Deyn, Peter Paul (University Hospital Antwerp (Bèlgica)) ;
Van Broeckhoven, Christine (University of Antwerp. Institute Born-Bunge) ;
Sleegers, Kristel (University of Antwerp. Institute Born-Bunge) ;
Universitat Autònoma de Barcelona
The sortilin-related receptor 1 (SORL1) gene has been associated with increased risk for Alzheimer's disease (AD). Rare genetic variants in the SORL1 gene have also been implicated in autosomal dominant early-onset AD (EOAD). [...]
2016 - 10.1007/s00401-016-1566-9
Acta Neuropathologica, Vol. 132 (march 2016) , p. 213-224
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