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1.
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13 p, 1.9 MB |
Genetic characterization of the ALFA study : Uncovering genetic profiles in the Alzheimer's continuum
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Vilor-Tejedor, Natalia (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Genius, Patricia (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Rodríguez-Fernández, Blanca (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Minguillón, Carolina (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Sadeghi, Iman (Centre de Regulació Genòmica) ;
González-Escalante, Armand (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Crous-Bou, Marta (Hospital Universitari de Bellvitge) ;
Suárez-Calvet, Marc (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Grau-Rivera, Oriol (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Brugulat-Serrat, Anna (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Sánchez-Benavides, Gonzalo (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Esteller, M (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Fauria, Karine (Pasqual Maragall Foundation) ;
Molinuevo, José Luis (Pasqual Maragall Foundation) ;
Navarro, Arcadi 1969- (Universitat Pompeu Fabra) ;
Gispert, Juan Domingo (Institut Hospital del Mar d'Investigacions Mèdiques)
INTRODUCTION: In 2013, the ALzheimer's and FAmilies (ALFA) project was established to investigate pathophysiological changes in preclinical Alzheimer's disease (AD), and to foster research on early detection and preventive interventions. [...]
2023 -  10.1002/alz.13537
Alzheimer's & Dementia, 2023
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12 p, 312.7 KB |
Clinical reporting following the quantification of cerebrospinal fluid biomarkers in Alzheimer's disease : An international overview
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Delaby, Constance (Institut d'Investigació Biomèdica Sant Pau) ;
Teunissen, Charlotte E. (Vrije Universiteit Amsterdam) ;
Blennow, Kaj (The Sahlgrenska Academy at the University of Gothenburg) ;
Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ;
Arisi, Ivan (European Brain Research Institute (EBRI) "Rita Levi-Montalcini") ;
Amar, Elodie Bouaziz (GHU APHP Nord Lariboisière Fernand-Widal Hospital) ;
Beaume, Anne (CHU Poitiers) ;
Bedel, Aurelie (CHU Bordeaux) ;
Bellomo, Giovanni (University of Perugia) ;
Bigot-Corbel, Edith (CHU de Nantes) ;
Bjerke, Maria (University of Antwerp) ;
Blanc-Quintin, Marie-Céline (APHP Centre-Université de Paris, Cochin Hospital) ;
Boada, Mercè (Instituto de Salud Carlos III) ;
Bousiges, Olivier (Hôpitaux Universitaires de Strasbourg) ;
Chapman, Miles D (National Hospital for Neurology and Neurosurgery, UCL Queen Square) ;
DeMarco, Mari L. (University of British Columbia) ;
D'Onofrio, Mara (European Brain Research Institute (EBRI) "Rita Levi-Montalcini") ;
Dumurgier, Julien (GHU APHP Nord Lariboisière Fernand-Widal Hospital) ;
Dufour-Rainfray, Diane (CHU Tours) ;
Engelborghs, Sebastiaan (Center for Neurosciences and Department of Neurology) ;
Esselmann, Hermann (University Medical Center Goettingen (UMG) ;
Fogli, Anne (CHU Clermont-Ferrand) ;
Gabelle, Audrey (INSERM) ;
Galloni, Elisabetta (Dipartimento di Neuroscienze Divisione di Neurologia) ;
Gondolf, Clémentine (CHU Cote de Nacre Caen) ;
Grandhomme, Frédérique (CHU Cote de Nacre Caen) ;
Grau-Rivera, Oriol (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Hart, Melanie (National Hospital for Neurology and Neurosurgery, UCL Queen Square) ;
Ikeuchi, Takeshi (Niigata University) ;
Jeromin, Andreas (Cohen Veterans Bioscience) ;
Kasuga, Kensaku (Niigata University) ;
Keshavan, Ashvini (UCL Institute of Neurology (Regne Unit)) ;
Khalil, Michael (Medical University of Graz) ;
Körtvelyessy, Peter (German Center for Neurodegenerative Diseases, Magdeburg, Germany and Charité-Universitäts medizin Berlin) ;
Kulczynska-Przybik, Agnieszka (Medical University of Bialystok) ;
Laplanche, Jean-Louis (GHU APHP Nord Lariboisière Fernand-Widal Hospital) ;
Lewczuk, Piotr (Universitätsklinikum Erlangen and Friedrich-Alexander Universität Erlangen-Nürnberg) ;
Li, Qiao-Xin (Florey Institute and The University of Melbourne) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Malaplate, Catherine (Biologie Moléculaire et Nutrition/ Université de Lorraine) ;
Marquié, Marta (Instituto de Salud Carlos III) ;
Masters, Colin L. (Florey Institute and The University of Melbourne) ;
Mroczko, Barbara (Medical University of Bialystok) ;
Nogueira, Léonor (CHU PURPAN) ;
Orellana, Adelina (Instituto de Salud Carlos III) ;
Otto, Markus (University of Ulm) ;
Oudart, Jean-Baptiste (Université de Reims Champagne-Ardenne) ;
Paquet, Claire (GHU APHP Nord Lariboisière Fernand-Widal Hospital) ;
Paoletti, Federico Paolini (University of Perugia) ;
Parnetti, Lucilla (University of Perugia) ;
Perret-Liaudet, Armand (Lyon University Hospital) ;
Peoc'h, Katell (Université de Paris GHU APHP Nord Beaujon Hospital) ;
Poesen, Koen (Leuven Brain Institute) ;
Puig-Pijoan, Albert (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Quadrio, Isabelle (Lyon University Hospital) ;
Quillard-Muraine, Muriel (Normandie Univ) ;
Rucheton, Benoit (AP-HP Sorbonne University) ;
Schraen, Susanna (Université de Lille) ;
Schott, Jonathan M. (UCL Institute of Neurology (Regne Unit)) ;
Shaw, Leslie M. (University of Pennsylvania) ;
Suárez-Calvet, Marc (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Tsolaki, Magda (Aristotle University of Thessaloniki) ;
Tumani, Hayrettin (University of Ulm) ;
Udeh-Momoh, Chinedu T (Imperial College London) ;
Vaudran, Lucie (Univ. Lille) ;
Verbeek, Marcel M (Radboud University Medical Center) ;
Verde, Federico ("Dino Ferrari" Center, Università degli Studi di Milano) ;
Vermunt, Lisa (Vrije Universiteit Amsterdam) ;
Vogelgsang, Jonathan (Harvard Medical School) ;
Wiltfang, Jens (University of Aveiro) ;
Zetterberg, Henrik (UCL Institute of Neurology (Regne Unit)) ;
Lehmann, Sylvain (Université de Montpellier) ;
Universitat Autònoma de Barcelona
The current practice of quantifying cerebrospinal fluid (CSF) biomarkers as an aid in the diagnosis of Alzheimer's disease (AD) varies from center to center. For a same biochemical profile, interpretation and reporting of results may differ, which can lead to misunderstandings and raises questions about the commutability of tests. [...]
2021 - 10.1002/alz.12545
Alzheimer's & Dementia, Vol. 18 (december 2021) , p. 1868-1879
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3.
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15 p, 2.4 MB |
Effect of BDNF Val66Met on hippocampal subfields volumes and compensatory interaction with APOE-ε4 in middle-age cognitively unimpaired individuals from the ALFA study
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Vilor-Tejedor, N. (Universitat Pompeu Fabra) ;
Operto, Gregory (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Evans, T. E. (Erasmus MC University Medical Center Rotterdam. Department of Clinical Genetics) ;
Falcon, Carles (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Crous-Bou, Marta (Institut Català d'Oncologia) ;
Minguillón, Carolina (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Cacciaglia, Raffaele (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Milà-Alomà, Marta (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Grau-Rivera, Oriol (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Suárez-Calvet, Marc (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Garrido-Martín, Diego (Centre de Regulació Genòmica) ;
Moran, S (Institut d'Investigació Biomèdica de Bellvitge) ;
Esteller, M. (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Adams, Hieab (Erasmus MC University Medical Center Rotterdam. Department of Radiology) ;
Molinuevo, José Luis (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Guigó, R. (Universitat Pompeu Fabra) ;
Gispert, Juan Domingo (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Universitat Autònoma de Barcelona
Background: Current evidence supports the involvement of brain-derived neurotrophic factor (BDNF) Val66Met polymorphism, and the ε4 allele of APOE gene in hippocampal-dependent functions. Previous studies on the association of Val66Met with whole hippocampal volume included patients of a variety of disorders. [...]
2020 - 10.1007/s00429-020-02125-3
Brain Structure and Function, Vol. 225 Núm. 8 (january 2020) , p. 2331-2345
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13 p, 1.2 MB |
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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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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