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Articles, 5 registres trobats
Articles 5 registres trobats  
1.
4 p, 417.7 KB Correction to : A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity / van der Lee, Sven J. (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Clinical Genetics) ; Conway, Olivia J. (Mayo Clinic Florida. Department of Neuroscience) ; Jansen, Iris (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience) ; Carrasquillo, Minerva M. (Mayo Clinic Florida. Department of Neuroscience) ; Kleineidam, Luca (University Hospital Cologne. Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Faculty of Medicine) ; van den Akker, Erik (Delft University of Technology. Pattern Recognition and Bioinformatics) ; Hernández, Isabel (Centro de Investigacion Biomedica en Red en Enfermedades Neurodegenerativas (CIBERNED)) ; van Eijk, Kristel R. (University Medical Center Utrecht. Department of Neurology, Brain Center Rudolf Magnus) ; Stringa, Najada (Amsterdam Public Health Research Institute. Amsterdam UMC-Vrije Universiteit Amsterdam, Department of Epidemiology and Biostatistics) ; Chen, Jason A. (University of California. Interdepartmental Program in Bioinformatics) ; Zettergren, Anna (Neuropsychiatric Epidemiology Unit, Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy, Centre for Ageing and Health (AgeCap) at the University of Gothenburg) ; Andlauer, Till F. M. (German Competence Network Multiple Sclerosis (KKNMS)) ; Diez-Fairen, Monica (Fundacio per la Recerca Biomedica I Social Mutua Terrassa) ; Simon-Sanchez, Javier (University of Tübingen. Hertie Institute for Clinical Brain Research) ; Lleó, Alberto (Universitat Autonoma de Barcelona. Memory Unit, Department of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau) ; Zetterberg, Henrik (UCL Institute of Neurology, Queen Square. Department of Molecular Neuroscience) ; Nygaard, Marianne (University of Southern Denmark. The Danish Aging Research Center, Epidemiology, Biostatistics and Biodemography, Department of Public Health) ; Blauwendraat, Cornelis (National Institute of Neurological Disorders and Stroke. Neurodegenerative Diseases Research Unit) ; Savage, Jeanne E. (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience) ; Mengel-From, Jonas (University of Southern Denmark. Epidemiology, Biostatistics and Biodemography, Department of Public Health) ; Moreno-Grau, Sonia (Universitat Internacional de Catalunya. Research Center and Memory Clinic, Fundació ACE, Institut Català de Neurociències Aplicades) ; Wagner, Michael (DZNE, German Center for Neurodegenerative Diseases) ; Fortea, Juan (Universitat Autonoma de Barcelona. Memory Unit, Department of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau) ; Keogh, Michael J. (University of Cambridge. Department of Clinical Neurosciences) ; Blennow, Kaj (Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg. Department of Psychiatry and Neurochemistry) ; Skoog, Ingmar (Neuropsychiatric Epidemiology Unit, Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy, Centre for Ageing and Health (AgeCap) at the University of Gothenburg) ; Friese, Manuel A. (Universitätsklinikum Hamburg-Eppendorf. Institut für Neuroimmunologie und Multiple Sklerose (INIMS)) ; Pletnikova, Olga (Johns Hopkins University Medical Center. Department of Pathology (Neuropathology)) ; Zulaica, Miren (Instituto Biodonostia) ; Lage, Carmen (IDIVAL) ; de Rojas, Itziar (Centro de Investigacion Biomedica en Red en Enfermedades Neurodegenerativas (CIBERNED)) ; Riedel-Heller, Steffi (University of Leipzig. Institute of Social Medicine, Occupational Health and Public Health (ISAP)) ; Illán-Gala, Ignacio (Universitat Autonoma de Barcelona. Memory Unit, Department of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau) ; Wei, Wei (University of Cambridge. Department of Clinical Neurosciences) ; Jeune, Bernard (University of Southern Denmark. Epidemiology, Biostatistics and Biodemography, Department of Public Health) ; Orellana, Adelina (Centro de Investigacion Biomedica en Red en Enfermedades Neurodegenerativas (CIBERNED)) ; Then Bergh, Florian (University of Leipzig. Department of Neurology) ; Wang, Xue (Mayo Clinic Florida. Department of Neuroscience) ; Hulsman, Marc (Delft University of Technology. Pattern Recognition and Bioinformatics) ; Beker, Nina (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ; Tesi, Niccolo (Delft University of Technology. Pattern Recognition and Bioinformatics) ; Morris, Christopher M. (Newcastle University. Newcastle Brain Tissue Resource, Edwardson Building, Institute of Neuroscience) ; Indakoetxea, Begoña (Cognitive Disorders Unit, Department of Neurology, Hospital Universitario San Sebastian, San Sebastian, Spain) ; Collij, Lyduine E. (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Radiology and Nuclear Medicine, Amsterdam Neuroscience) ; Scherer, Martin (Department of Primary Medical Care, Center for Psychosocial Medicine, University Medical Center, Hamburg-Eppendorf, Germany) ; Morenas-Rodríguez, Estrella (Universitat Autonoma de Barcelona. Memory Unit, Department of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau) ; Ironside, James W. (University of Edinburgh. Centre for Clinical Brain Sciences) ; van Berckel, Bart N. M. (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Radiology and Nuclear Medicine, Amsterdam Neuroscience) ; Alcolea, Daniel (Universitat Autonoma de Barcelona. Memory Unit, Department of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau) ; Wiendl, Heinz (University of Münster. Department of Neurology, Klinik für Neurologie mit Institut für Translationale Neurologie) ; Strickland, Samantha L. (Mayo Clinic Florida. Department of Neuroscience) ; Pastor, Pau (Fundacio per la Recerca Biomedica I Social Mutua Terrassa) ; Rodríguez Rodríguez, Eloy (IDIVAL) ; Boeve, Bradley F. (Mayo Clinic Minnesota. Department of Neurology) ; Petersen, Ronald C. (Mayo Clinic Minnesota. Department of Neurology) ; Ferman, Tanis J. (Mayo Clinic Florida. Department of Psychiatry and Psychology) ; van Gerpen, Jay A. (Mayo Clinic Florida. Department of Neurology) ; Reinders, Marcel J. T. (Delft University of Technology. Delft Bioinformatics Lab) ; Uitti, Ryan J. (Mayo Clinic Florida. Department of Neurology) ; Tárraga, Lluís (Centro de Investigacion Biomedica en Red en Enfermedades Neurodegenerativas (CIBERNED)) ; Maier, Wolfgang (DZNE, German Center for Neurodegenerative Diseases) ; Dols-Icardo, Oriol (Universitat Autonoma de Barcelona. Memory Unit, Department of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau) ; Kawalia, Amit (University Hospital Cologne. Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Faculty of Medicine) ; Dalmasso, Maria Carolina (Fundación Instituto Leloir-IIBBA-CONICET) ; Boada, Mercè (Centro de Investigacion Biomedica en Red en Enfermedades Neurodegenerativas (CIBERNED)) ; Zettl, Uwe K. (University of Rostock. Department of Neurology) ; van Schoor, Natasja M. (Amsterdam Public Health Research Institute. Amsterdam UMC-Vrije Universiteit Amsterdam, Department of Epidemiology and Biostatistics) ; Beekman, Marian (Leiden University Medical Center. Molecular Epidemiology) ; Allen, Mariet (Mayo Clinic Florida. Department of Neuroscience) ; Masliah, Eliezer (National Institute on Aging, National Institutes of Health. Laboratory of Neurogenetics) ; de Munain, Adolfo López (Department of Neurology, Hospital Universitario San Sebastian, San Sebastian, Spain) ; Pantelyat, Alexander (Johns Hopkins University Medical Center. Department of Neurology) ; Wszolek, Zbigniew K. (Mayo Clinic Florida. Department of Neurology) ; Ross, Owen A. (Mayo Clinic Florida. Department of Neuroscience) ; Dickson, Dennis W. (Mayo Clinic Florida. Department of Neuroscience) ; Graff-Radford, Neill R. (Mayo Clinic Florida. Department of Neurology) ; Knopman, David (Mayo Clinic Minnesota. Department of Neurology) ; Rademakers, Rosa (Mayo Clinic Florida. Department of Neuroscience) ; Lemstra, Afina W. (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ; Pijnenburg, Yolande A. L. (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ; Scheltens, Philip (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ; Gasser, Thomas (University of Tuebingen. Center of Neurology, Department of Neurodegenerative diseases, Hertie-Institute for Clinical Brain Research) ; Chinnery, Patrick F (University of Cambridge. MRC Mitochondrial Biology Unit) ; Hemmer, Bernhard (Munich Cluster for Systems Neurology (SyNergy)) ; Huisman, Martijn A. (VU University. Department of Sociology) ; Troncoso, Juan (Johns Hopkins University Medical Center. Department of Pathology (Neuropathology)) ; Moreno, Fermin (Cognitive Disorders Unit, Department of Neurology, Hospital Universitario San Sebastian, San Sebastian, Spain) ; Nohr, Ellen A. (University of Southern Denmark. Research Unit of Gynecology and Obstetrics, Department of Clinical Research) ; Sørensen, Thorkild I. A. (Bristol University. MRC Integrative Epidemiology Unit) ; Heutink, Peter (University of Tübingen. Hertie Institute for Clinical Brain Research) ; Sánchez-Juan, Pascual (IDIVAL) ; Posthuma, Danielle (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience) ; Clarimón, Jordi (Universitat Autonoma de Barcelona. Memory Unit, Department of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau) ; Christensen, Kaare (Odense University Hospital. Department of Clinical Genetics) ; Ertekin-Taner, Nilüfer (Mayo Clinic Florida. Department of Neurology) ; Scholz, Sonja W. (Johns Hopkins University Medical Center. Department of Neurology) ; Ramirez, Alfredo (University Hospital Cologne. Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Faculty of Medicine) ; Ruiz, Agustín (Centro de Investigacion Biomedica en Red en Enfermedades Neurodegenerativas (CIBERNED)) ; Slagboom, Eline (Dutch Society for Research on Ageing, Leiden, The Netherlands) ; van der Flier, Wiesje M. (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ; Holstege, Henne (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Clinical Genetics)
2020 - 10.1007/s00401-019-02026-8
Acta Neuropathologica, Vol. 139 (january 2020) , p. 959-962  
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) ; Lladó, 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 (Fundación Jiménez Díaz, Madrid) ; Pastor, Pau (Hospital Universitari Mútua de Terrassa) ; Ortega-Cubero, Sara (Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas) ; Pastor, Maria A. (Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas) ; Graff, Caroline (Center for Alzheimer Research, Karolinska Institutet, Sweden) ; Thonberg, Håkan (Center for Alzheimer Research, Karolinska Institutet, Sweden) ; 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 (Center for Neuroscience and Cell Biology, University of Coimbra, Portugal) ; Diehl-Schmid, Janine (Technische Universität München, Germany) ; Alexopoulos, Panagiotis (Technische Universität München, Germany) ; Clarimon, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Lleó, Alberto (Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas) ; Fortea, Juan (Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas) ; Tsolaki, Magda (Aristotle University of Thessaloniki, Greece) ; Koutroumani, Maria (Aristotle University of Thessaloniki, Greece) ; Matěj, Radoslav (Charles University, Prague, Czech Republic) ; Rohan, Zdenek (Charles University, Prague, Czech Republic) ; De Deyn, Peter (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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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 (Antwerp University Hospital) ; Perrone, Federica (University of Antwerp) ; Dillen, Lubina (University of Antwerp) ; Heeman, Bavo (University of Antwerp) ; Bäumer, Veerle (University of Antwerp) ; Engelborghs, Sebastiaan (Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken) ; De Bleecker, Jan (University Hospital Ghent and University of Ghent) ; Baets, Jonathan (Antwerp University Hospital) ; Gelpi, Ellen (Neurological Tissue Bank of the Biobanc - Hospital Clinic-Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS)) ; Rojas García, Ricardo (Universitat Autònoma de Barcelona) ; Clarimon, 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) ; Thonberg, Håkan (Karolinska University Hospital) ; 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 (Fundación Jiménez Díaz) ; Danek, Adrian (German Center for Neurodegenerative Diseases (DZNE)) ; Cras, Patrick (Antwerp University Hospital) ; Vandenberghe, Rik (University Hospitals Leuven) ; De Jonghe, Peter (Antwerp University Hospital) ; De Deyn, Peter P. (Hospital Network Antwerp) ; Sleegers, Kristel (University of Antwerp) ; Cruts, Marc (University of Antwerp) ; Van Broeckhoven, Christine (University of Antwerp) ; Goeman, Johan (Hospital Network Antwerp) ; Nuytten, Dirk (Hospital Network Antwerp) ; Smets, Katrien (Antwerp University Hospital) ; Robberecht, Wim (University Hospitals Leuven Gasthuisberg) ; Damme, Philip Van (University Hospitals Leuven Gasthuisberg) ; Bleecker, Jan De (University Hospital Ghent) ; Santens, Patrick (University Hospital Ghent) ; Dermaut, Bart (University Hospital Ghent) ; 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 (CIBERNED Instituto de Salud Carlos III) ; 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 (Fundació ACE, Institut Català de Neurociències Aplicades) ; Boada Rovira, Mercè (Fundació ACE, Institut Català de Neurociències Aplicades) ; Ruiz Laza, Agustín (Fundació ACE, Institut Català de Neurociències 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 (Hospital Clínic, IDIBAPS) ; Lladó, Albert (Hospital Clínic, IDIBAPS) ; 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 (Thomayer Hospital, Prague and Charles University) ; 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)
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 / Verheijen, Jan (Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ; Van den Bossche, Tobi (Department of Neurology and Memory Clinic, Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken, Antwerp, Belgium) ; van der Zee, Julie (Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ; Engelborghs, Sebastiaan (Department of Neurology and Memory Clinic, Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken, Antwerp, Belgium) ; Sánchez Valle, Raquel (Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Department, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain) ; Lladó, Albert (Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Department, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain) ; Graff, Caroline (Genetics Unit, Department of Geriatric Medicine, Karolinska University Hospital, Stockholm, Sweden) ; Thonberg, Håkan (Genetics Unit, Department of Geriatric Medicine, Karolinska University Hospital, Stockholm, Sweden) ; Pastor, Pau (Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain) ; Ortega-Cubero, Sara (Department of Neurology, Complejo Asistencial Universitario de Palencia, Palencia, Spain) ; Pastor, Maria A. (Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine, Pamplona, Spain) ; Benussi, Luisa (Molecular Markers Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy) ; Ghidoni, Roberta (Molecular Markers Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy) ; Binetti, Giuliano (MAC Memory Center, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy) ; Clarimon, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Lleó Bisa, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Fortea Ormaechea, Juan (Institut d'Investigació Biomèdica Sant Pau) ; de Mendonça, Alexandre (Faculty of Medicine and Institute of Molecular Medicine, University of Lisbon, Lisbon, Portugal) ; Martins, Madalena (Faculty of Medicine and Institute of Molecular Medicine, University of Lisbon, Lisbon, Portugal) ; Grau-Rivera, Oriol (Neurological Tissue Bank of the Biobanc, Hospital Clinic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain) ; Gelpi, Ellen (Neurological Tissue Bank of the Biobanc, Hospital Clinic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain) ; Bettens, Karolien (Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ; Mateiu, Ligia (Bioinformatics Unit, Department of Molecular Genetics, VIB, Antwerp, Belgium) ; Dillen, Lubina (Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ; Cras, Patrick (Department of Neurology, Antwerp University Hospital, Edegem, Belgium) ; De Deyn, Peter P. (Department of Neurology and Memory Clinic, Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken, Antwerp, Belgium) ; Van Broeckhoven, Christine (Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ; Sleegers, Kristel (Institute Born-Bunge, University of Antwerp, Antwerp, Belgium)
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 (Antwerp University Hospital) ; Engelborghs, Sebastiaan (Hospital Network Antwerp () ; Geerts, Nathalie (University of Antwerp) ; Laureys, Annelies (University of Antwerp) ; Dillen, Lubina (University of Antwerp) ; Graff, Caroline (Karolinska University Hospital) ; Thonberg, Håkan (Karolinska University Hospital) ; Chiang, Huei-Hsin (Karolinska University Hospital) ; 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 Biomediques August Pi i Sunyer) ; Lladó, Albert (Institut d'Investigacions Biomediques August Pi i Sunyer) ; Gelpi, Ellen (Institut d'Investigacions Biomediques 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) ; Clarimon, Jordi (Universitat Autònoma de Barcelona. Departament de Neurologia) ; Lleó Bisa, Alberto (Universitat Autònoma de Barcelona. Departament de Neurologia) ; Fortea, Juan (Universitat Autònoma de Barcelona. Departament de Neurologia) ; 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) ; De Deyn, Peter P. (Hospital Network Antwerp) ; Cras, Patrick (Antwerp University Hospital) ; 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  

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