Depósito Digital de Documentos de la UAB Encontrados 12 registros  1 - 10siguiente  ir al registro: La búsqueda tardó 0.00 segundos. 
1.
19 p, 6.1 MB TREM2 expression in the brain and biological fluids in prion diseases / Diaz-Lucena, Daniela (Institut d'Investigació Biomèdica de Bellvitge) ; Kruse, Niels (University Medical Center Göttingen. Institute of Neuropathology) ; Thüne, Katrin (University Medical Center Göttingen. Department of Neurology) ; Schmitz, Matthias (German Center for Neurodegenerative Diseases) ; Villar-Piqué, Anna (Institut d'Investigació Biomèdica de Bellvitge) ; da Cunha, Jose Eriton Gomes (Universidade Federal de Pernambuco. Keizo Asami Laboratory) ; Hermann, Peter (University Medical Center Göttingen. Department of Neurology) ; López-Pérez, Óscar (Institut d'Investigació Biomèdica de Bellvitge) ; Andrés-Benito, Pol (Institut d'Investigació Biomèdica de Bellvitge) ; Ladogana, Anna (Istituto Superiore Di Sanità. Department of Neurosciences) ; Calero, Miguel (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Vidal Barba, Enric (Institut de Recerca i Tecnologia Agroalimentàries) ; Riggert, Joachim (University Medical School. Department of Transfusion Medicine) ; Pineau, Hailey (University of Alberta. Department of Medicine-Division of Neurology) ; Sim, Valerie (University of Alberta. Department of Medicine-Division of Neurology) ; Zetterberg, Henrik (UCL Institute of Neurology.) ; Blennow, Kaj (Sahlgrenska University Hospital. Clinical Neurochemistry Laboratory) ; del Río, Jose Antonio (University of Barcelona. Institute of Neuroscience) ; Marín-Moreno, Alba (Centro de Investigación en Sanidad Animal. CISA-INIA) ; Espinosa, Juan Carlos (Centro de Investigación en Sanidad Animal. CISA-INIA) ; Torres, Juan María (Centro de Investigación en Sanidad Animal. CISA-INIA) ; Sánchez-Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Mollenhauer, Brit (University Medical Centre Göttingen. Department of Neurology) ; Ferrer, Isidro (Universitat de Barcelona. Departament de Patologia i Terapèutica Experimental) ; Zerr, Inga (German Center for Neurodegenerative Diseases) ; Llorens, Franc (University Medical Center Göttingen. Department of Neurology)
Triggering receptor expressed on myeloid cells 2 (TREM2) is an innate immune cell surface receptor that regulates microglial function and is involved in the pathophysiology of several neurodegenerative diseases. [...]
2021 - 10.1007/s00401-021-02296-1
Acta Neuropathologica, Vol. 141 (april 2021) , p. 841-859  
2.
15 p, 570.6 KB C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts / Costa, Beatrice ; Manzoni, Claudia ; Bernal-Quiros, Manuel ; Kia, Demis A. ; Aguilar Barberà, Miquel ; Alvarez, Ignacio ; Alvarez, Victoria ; Andreassen, Ole ; Anfossi, Maria ; Bagnoli, Silvia ; Benussi, Luisa ; Bernardi, Livia ; Binetti, Giuliano ; Blackburn, Daniel ; Boada, Mercè ; Borroni, Barbara ; Bowns, Lucy ; Bråthen, Geir ; Bruni, Amalia C. ; Chiang, Huei-Hsin ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Colville, Shuna ; Conidi, Maria E. ; Cope, Tom E. ; Cruchaga, Carlos ; Cupidi, Chiara ; Di Battista, Maria Elena ; Diehl-Schmid, Janine ; Diez-Fairen, Monica ; Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ; Durante, Elisabetta ; Flisar, Dušan ; Frangipane, Francesca ; Galimberti, Daniela ; Gallo, Maura ; Gallucci, Maurizio ; Ghidoni, Roberta ; Graff, Caroline ; Grafman, Jordan H. ; Grossman, Murray ; Hardy, John ; Hernández, Isabel ; Holloway, Guy J.T. ; Huey, Edward D. ; Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ; Karydas, Anna ; Khoshnood, Behzad ; Kramberger, Milica G. ; Kristiansen, Mark ; Lewis, Patrick A. ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Madhan, Gaganjit K. ; Maletta, Raffaele ; Maver, Aleš ; Menendez-Gonzalez, Manuel ; Milan, Graziella ; Miller, Bruce ; Mol, Merel O. ; Momeni, Parastoo ; Moreno-Grau, Sonia ; Morris, Chris M. ; Nacmias, Benedetta ; Nilsson, Christer ; Novelli, Valeria ; Öijerstedt, Linn ; Padovani, Alessandro ; Pal, Suvankar ; Panchbhaya, Yasmin ; Pastor, Pau ; Peterlin, Borut ; Piaceri, Irene ; Pickering-Brown, Stuart ; Pijnenburg, Yolande A.L. ; Puca, Annibale A. ; Rainero, Innocenzo ; Rendina, Antonella ; Richardson, Anna M.T. ; Rogaeva, Ekaterina ; Rogelj, Boris ; Rollinson, Sara ; Rossi, Giacomina ; Rossmeier, Carola ; Rowe, James B. ; Rubino, Elisa ; Ruiz, Agustín ; Sanchez-Valle, Raquel ; Sando, Sigrid B. ; Santillo, Alexander F. ; Saxon, Jennifer ; Scarpini, Elio ; Serpente, Maria ; Smirne, Nicoletta ; Sorbi, Sandro ; Suh, EunRan ; Tagliavini, Fabrizio ; Thompson, Jennifer C. ; Trojanowski, John Q. ; Van Deerlin, Vivianna M. ; Van der Zee, Julie ; Van Broeckhoven, Christine ; van Rooij, Jeroen ; Van Swieten, John C. ; Veronesi, Arianna ; Vitale, Emilia ; Waldö, Maria L. ; Woodward, Cathy ; Yokoyama, Jennifer ; Escott-Price, Valentina ; Polke, James M. ; Ferrari, Raffaele ; Universitat Autònoma de Barcelona
We sought to characterize C9orf72 expansions in relation to genetic ancestry and age at onset (AAO) and to use these measures to discriminate the behavioral from the language variant syndrome in a large pan-European cohort of frontotemporal lobar degeneration (FTLD) cases. [...]
2020 - 10.1212/WNL.0000000000010914
Neurology, Vol. 95 (december 2020) , p. e3288-e3302  
3.
14 p, 1.2 MB Diagnostic Utility of Measuring Cerebral Atrophy in the Behavioral Variant of Frontotemporal Dementia and Association With Clinical Deterioration / Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ; Falgàs, Neus (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Friedberg, Adit (University of California. Department of Neurology) ; Castro-Suárez, Sheila (University of California. Department of Neurology) ; Keret, Ophir (University of California. Department of Neurology) ; Rogers, Nicole (University of California. Department of Neurology) ; Oz, Didem (University of California. Department of Neurology) ; Nigro, Salvatore (Magna Graecia University (Catanzaro, Itàlia). Neuroscience Centre) ; Quattrone, Andrea (Magna Graecia University (Catanzaro, Itàlia). Institute of Neurology) ; Quattrone, Aldo (Institute of Molecular Bioimaging and Physiology (Catanzaro, Itàlia)) ; Wolf, Amy (University of California. Department of Neurology) ; Younes, Kyan (University of California. Department of Neurology) ; Santos-Santos, Miguel (Institut d'Investigació Biomèdica Sant Pau) ; Borrego-Écija, Sergi (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Cobigo, Yann (University of California. Department of Neurology) ; Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ; Lladó, Albert (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Sánchez-Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ; Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ; Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Grinberg, Lea T. (University of California. Department of Neurology) ; Spina, Salvatore (University of California. Department of Neurology) ; Kramer, Joel H. (University of California. Department of Neurology) ; Rabinovici, Gil D. (University of California. Department of Neurology) ; Boxer, Adam (University of California. Department of Neurology) ; Gorno Tempini, Maria Luisa (University of California. Department of Neurology) ; Miller, Bruce L. (University of California. Department of Neurology) ; Seeley, William W. (University of California. Department of Neurology) ; Rosen, Howard J. (University of California. Department of Neurology) ; Perry, David C. (University of California. Department of Neurology) ; Universitat Autònoma de Barcelona
Can widely available measures of atrophy on magnetic resonance imaging increase diagnostic certainty of underlying frontotemporal lobar degeneration (FTLD) and estimate clinical deterioration in the behavioral variant of frontotemporal dementia (bvFTD)? This diagnostic/prognostic study investigated the clinical utility of 5 validated visual atrophy scales (VAS) and the Magnetic Resonance Parkinsonism Index. [...]
2021 - 10.1001/jamanetworkopen.2021.1290
JAMA network open, Vol. 4 (march 2021)  
4.
12 p, 2.1 MB Challenges associated with biomarker-based classification systems for Alzheimer's disease / Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ; Pegueroles, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Montal, Victor (Institut d'Investigació Biomèdica Sant Pau) ; Vilaplana, Eduard (Institut d'Investigació Biomèdica Sant Pau) ; Carmona Iragui, María (Institut d'Investigació Biomèdica Sant Pau) ; Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ; Dickerson, Bradford C. (Massachusetts Alzheimer's Disease Research Center, Boston, MA, USA) ; Sánchez-Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; de Leon, Mony J. (Centre for Brain Health, Department of Psychiatry, New York University School of Medicine, New York, NY, USA) ; Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
We aimed to evaluate the consistency of the A/T/N classification system. We included healthy controls, mild cognitive impairment, and dementia patients from Alzheimer's disease Neuroimaging Initiative. [...]
2018 - 10.1016/j.dadm.2018.03.004
Alzheimer's & dementia, Vol. 10 (april 2018) , p. 346-357  
5.
16 p, 1.7 MB 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) ; Llado Plarrumani, Albert (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Molinuevo, José Luis (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; 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, Olivia (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  
6.
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 (Hospital Universitario Fundación Jiménez Díaz) ; Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; 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 (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 (Center for Neuroscience and Cell Biology, University of Coimbra, Portugal) ; Diehl-Schmid, Janine (Technische Universität München, Germany) ; Alexopoulos, Panagiotis (Technische Universität München, Germany) ; Clarimón, 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) ; Koutroumani, Maria (Aristotle University of Thessaloniki) ; Matej, 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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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 (Universitat Pompeu Fabra) ; Monté, Gemma C. (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; 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) ; Tucholka, Alan (Barcelonaβeta Brain Research Center (BBRC)) ; Rojas, Santiago (Universitat Autònoma de Barcelona. Departament de Ciències Morfològiques) ; Rami, Lorena (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Sánchez-Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Lladó, Albert (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Kleinberger, Gernot (Munich Cluster for Systems Neurology (SyNergy), Munich, Germany) ; Haass, Christian (Munich Cluster for Systems Neurology (SyNergy), Munich, Germany) ; Molinuevo, José Luis (Institut d'Investigacions Biomèdiques August Pi i Sunyer)
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  
8.
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 (Universitair Ziekenhuis Gent) ; Baets, Jonathan (Antwerp University Hospital) ; Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Rojas García, Ricardo (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) ; 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 (Hospital Universitario 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 (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 (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 (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) ; Lladó, 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 (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  
9.
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 (Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken) ; van der Zee, Julie (University of Antwerp. Institute Born-Bunge) ; Engelborghs, Sebastiaan (Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken) ; Sánchez Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Lladó, Albert (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Graff, Caroline (Karolinska University Hospital (Estocolm, Suècia)) ; Thonberg, Håkan (Karolinska University Hospital (Estocolm, 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. Departamento de Neurología) ; 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 Ormaechea, 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 (Department of Neurology, Antwerp University Hospital, Edegem, Belgium) ; De Deyn, Peter P. (Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken) ; 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  
10.
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) ; Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ; Gispert, Juan Domingo (Institut d'Investigació Biomèdica Sant Pau) ; Sánchez-Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Antonell, Anna (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Rami, Lorena (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Molinuevo, José L (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; 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 (Regne Unit)) ; 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  

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