Resultats globals: 8 registres trobats en 0.03 segons.
Articles, 8 registres trobats
Articles 8 registres trobats  
1.
Changes in synaptic proteins precede neurodegeneration markers in preclinical Alzheimer's disease cerebrospinal fluid / Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Núñez Llaves, Raúl (Institut d'Investigació Biomèdica Sant Pau) ; Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ; Chiva, Cristina (Centre de Regulació Genòmica) ; Balateu Paños, Daniel (Institut d'Investigació Biomèdica Sant Pau) ; Colom Cadena, Martí (Institut d'Investigació Biomèdica Sant Pau) ; Gómez, Gemma (Institut d'Investigació Biomèdica Sant Pau) ; Muñoz, Laia (Institut d'Investigació Biomèdica Sant Pau) ; Querol, Marta (Institut d'Investigació Biomèdica Sant Pau) ; Pegueroles, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Rami Gonzalez, Lorena (Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)) ; Llado Plarrumani, Albert (Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)) ; Molinuevo, José Luis (Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)) ; Tainta, Mikel (Fundación CITA Alzheimer) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Spires Jones, Tara (University of Edinburgh) ; Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ; Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ; Martínez Lage, Pablo (Fundación CITA Alzheimer) ; Sánchez Valle, Raquel (Institut d'Investigació Biomèdica Sant Pau) ; Sabidó, Eduard (Centre de Regulació Genòmica) ; Bayés, Àlex (Institut d'Investigació Biomèdica Sant Pau) ; Belbin, O. (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
A biomarker of synapse loss, an early event in Alzheimer's disease (AD) pathophysiology that precedes neuronal death and symptom onset, would be a much-needed prognostic biomarker. With direct access to the brain interstitial fluid, the cerebrospinal fluid (CSF) is a potential source of synapse-derived proteins. [...]
2019 - 10.1074/mcp.RA118.001290
Molecular and Cellular Proteomics, Vol. 18 Núm. 3 (march 2019) , p. 546-560  
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  
3.
10 p, 838.9 KB The APOE ε4 genotype modulates CSF YKL-40 levels and their structural brain correlates in the continuum of Alzheimer's disease but not those of sTREM2 / Gispert, Juan Domingo (Pompeu Fabra University, Barcelona, Spain) ; Monté, Gemma C. (Alzheimer's Disease and Other Cognitive Disorders Unit, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain) ; Suárez-Calvet, Marc (German Center for Neurodegenerative Diseases (DZNE) Munich, Munich, Germany) ; Falcon, Carles (Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina (CIBER-BBN), Zaragoza, Spain) ; Tucholka, Alan (Barcelonaβeta Brain Research Center, Pasqual Maragall Foundation, Barcelona, Spain) ; Rojas, Santiago (Universitat Autònoma de Barcelona. Departament de Ciències Morfològiques) ; Rami, Lorena (Alzheimer's Disease and Other Cognitive Disorders Unit, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain) ; Sánchez-Valle, Raquel (Alzheimer's Disease and Other Cognitive Disorders Unit, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain) ; Lladó, Albert (Alzheimer's Disease and Other Cognitive Disorders Unit, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain) ; Kleinberger, Gernot (Munich Cluster for Systems Neurology (SyNergy), Munich, Germany) ; Haass, Christian (Munich Cluster for Systems Neurology (SyNergy), Munich, Germany) ; Molinuevo, José Luis (Alzheimer's Disease and Other Cognitive Disorders Unit, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain)
Among other metabolic functions, the apolipoprotein E (APOE) plays a crucial role in neuroinflammation. We aimed at assessing whether APOE ε4 modulates levels of glial cerebrospinal fluid (CSF) biomarkers and their structural cerebral correlates along the continuum of Alzheimer's disease (AD). [...]
2016 - 10.1016/j.dadm.2016.12.002
Alzheimer's & dementia, Vol. 6 (december 2016) , p. 50-59  
4.
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) ; 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  
5.
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) ; 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  
6.
11 p, 519.1 KB 2 cerebrospinal fluid levels are a potential biomarker for microglia activity in early-stage Alzheimer's disease and associate with neuronal injury markers / Suárez-Calvet, Marc (German Center for Neurodegenerative Diseases (DZNE) Munich) ; Kleinberger, Gernot (Munich Cluster for Systems Neurology (SyNergy)) ; Araque Caballero, Miguel Ángel (Ludwig-Maximilians-University Munich) ; Brendel, Matthias (Ludwig-Maximilians-University Munich) ; Rominger, Axel (Ludwig-Maximilians-University Munich) ; Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau. Departament de Neurociències) ; Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau. Departament de Neurociències) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau. Departament de Neurociències) ; Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau. Departament de Neurociències) ; Gispert, Juan Domingo (Institut d'Investigació Biomèdica Sant Pau. Departament de Neurociències) ; Sánchez-Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)) ; Antonell, Anna (Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)) ; Rami, Lorena (Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)) ; Molinuevo, José L (Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)) ; Brosseron, Frederic (German Center for Neurodegenerative Diseases (DZNE)) ; Traschütz, Andreas (Universitätsklinikum Bonn) ; Heneka, Michael T (Universitätsklinikum Bonn) ; Struyfs, Hanne (Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken) ; Engelborghs, Sebastiaan (Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken) ; Sleegers, Kristel (University of Antwerp. Institute Born-Bunge) ; Van Broeckhoven, Christine (University of Antwerp. Institute Born-Bunge) ; Zetterberg, Henrik (UCL Institute of Neurology) ; Nellgård, Bengt (Gothenburg University. Sahlgrenska Academy. Institute of Clinical Sciences) ; Blennow, Kaj (The Sahlgrenska Academy at the University of Gothenburg. Institute of Neuroscience and Physiology) ; Crispin, Alexander (Institute of Medical Informatics, Biometry, and Epidemiology) ; Ewers, Michael (Ludwig-Maximilians-University Munich) ; Haass, Christian (BioMedical Center (BMC), Biochemistry, Ludwig-Maximilians-University Munich) ; Universitat Autònoma de Barcelona
2 is an innate immune receptor expressed on the surface of microglia. Loss-of-function mutations of 2 are associated with increased risk of Alzheimer's disease (). 2 is a type-1 protein with an ectodomain that is proteolytically cleaved and released into the extracellular space as a soluble variant (2), which can be measured in the cerebrospinal fluid (). [...]
2016 - 10.15252/emmm.201506123
EMBO Molecular Medicine, Vol. 8 (march 2016) , p. 466-476  
7.
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  
8.
13 p, 663.0 KB Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease / Pera, Marta (Institut d'Investigació Biomèdica Sant Pau) ; Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ; Sánchez-Valle, Raquel (Alzheimer's Disease and other Cognitive Disorders Unit, Department of Neurology, Hospital Clínic, Barcelona, Spain) ; Guardia-Laguarta, Cristina (Institut d'Investigació Biomèdica Sant Pau) ; Colom-Cadena, Martí (Institut d'Investigació Biomèdica Sant Pau) ; Badiola Benito, Nahuai (Institut d'Investigació Biomèdica Sant Pau) ; Suárez-Calvet, Marc (Institut d'Investigació Biomèdica Sant Pau) ; Lladó, Albert (Alzheimer's Disease and other Cognitive Disorders Unit, Department of Neurology, Hospital Clínic, Barcelona, Spain) ; Barrera-Ocampo, Alvaro A. (Grupo de Neurociencias de Antioquia, Faculty of Medicine, University of Antioquia, Medellín, Colombia) ; Sepulveda-Falla, Diego (Grupo de Neurociencias de Antioquia, Faculty of Medicine, University of Antioquia, Medellín, Colombia) ; Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ; Molinuevo, José L. (Alzheimer's Disease and other Cognitive Disorders Unit, Department of Neurology, Hospital Clínic, Barcelona, Spain) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Ferrer, Isidre (Institut de Neuropatología, Servei Anatomia Patológica, IDIBELL, Hospital Universitari de Bellvitge, University of Barcelona, Barcelona, Spain) ; Gelpi, Ellen (Neurological Tissue Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona, Spain) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
The online version of this article (doi:10. 1007/s00401-012-1062-9) contains supplementary material, which is available to authorized users.
2012 - 10.1007/s00401-012-1062-9
Acta Neuropathologica, Vol. 125 (december 2012) , p. 201-213  

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