Results overview: Found 5 records in 0.02 seconds.
Articles, 5 records found
Articles 5 records found  
1.
12 p, 1.2 MB Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis / 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) ; George-Hyslop, Peter St (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  
2.
13 p, 1.2 MB Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease / 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  
3.
13 p, 955.5 KB TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis / 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  
4.
12 p, 849.5 KB A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease / 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  
5.
10 p, 498.4 KB Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort / Cacace, Rita (University of Antwerp) ; Van den Bossche, Tobi (University Hospital Antwerp (Bèlgica)) ; Engelborghs, Sebastiaan (University Hospital Antwerp (Bèlgica)) ; Geerts, Nathalie (University of Antwerp) ; Laureys, Annelies (University of Antwerp) ; Dillen, Lubina (University of Antwerp) ; Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Thonberg, Håkan (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Chiang, Huei-Hsin (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Pastor, Pau (Instituto de Salud Carlos III) ; Ortega-Cubero, Sara (Instituto de Salud Carlos III) ; Pastor, Maria A. (Universidad de Navarra. Facultad de Medicina) ; Diehl-Schmid, Janine (Technische Universität München) ; Alexopoulos, Panagiotis (Technische Universität München) ; 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) ; Nacmias, Benedetta (University of Florence) ; Sorbi, Sandro (University of Florence) ; Sanchez-Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Llado Plarrumani, Albert (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Almeida, Maria Rosário (University of Coimbra) ; Santana, Isabel (University of Coimbra) ; Tsolaki, Magda (Aristotle University of Thessaloniki) ; Koutroumani, Maria (Aristotle University of Thessaloniki) ; Clarimón, Jordi (Universitat Autònoma de Barcelona) ; Lleó Bisa, Alberto (Universitat Autònoma de Barcelona) ; Fortea, Juan (Universitat Autònoma de Barcelona) ; de Mendonça, Alexandre (University of Lisbon) ; Martins, Madalena (University of Lisbon) ; Borroni, Barbara (University of Brescia) ; Padovani, Alessandro (University of Brescia) ; Matej, Radoslav (Thomayer Hospital) ; Rohan, Zdenek (Third Medical Faculty of Charles University in Prague) ; Vandenbulcke, Mathieu (University of Leuven) ; Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ; De Deyn, Peter Paul (University Hospital Antwerp (Bèlgica)) ; Cras, Patrick (University Hospital Antwerp (Bèlgica)) ; van der Zee, Julie (University of Antwerp) ; Sleegers, Kristel (University of Antwerp) ; Van Broeckhoven, Christine (University of Antwerp)
Rare variants in the phospholipase D3 gene (PLD3) were associated with increased risk for late-onset Alzheimer disease (LOAD). We identified a missense mutation in PLD3 in whole-genome sequence data of a patient with autopsy confirmed Alzheimer disease (AD) and onset age of 50 years. [...]
2015 - 10.1002/humu.22908
Human mutation, Vol. 36 (october 2015) , p. 1226-1235  

See also: similar author names
7 Ortega-Cubero, S.
Interested in being notified about new results for this query?
Set up a personal email alert or subscribe to the RSS feed.