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7 p, 663.7 KB |
Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort
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Verheijen, Jan (University of Antwerp) ;
van der Zee, Julie (University of Antwerp) ;
Gijselinck, Ilse (University of Antwerp) ;
Van den Bossche, Tobi (University Hospital Antwerp (Bèlgica)) ;
Dillen, Lubina (University of Antwerp) ;
Heeman, Bavo (University of Antwerp) ;
Gómez-Tortosa, Estrella (Hospital Universitario Fundación Jiménez Díaz) ;
Lladó, Albert (Hospital Clínic i Provincial de Barcelona) ;
Sanchez-Valle, Raquel (Hospital Clínic i Provincial de Barcelona) ;
Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suecia)) ;
Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Pastor, Maria A. (Clínica Universidad de Navarra) ;
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) ;
Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
de Mendonça, Alexandre (University of Lisbon) ;
Gelpi, Ellen (Hospital Clínic i Provincial de Barcelona) ;
Tsolaki, Magda (Aristotle University of Thessaloniki) ;
Diehl-Schmid, Janine (Technische Universität München) ;
Nacmias, Benedetta (University of Florence) ;
Almeida, Maria Rosário (University of Coimbra) ;
Borroni, Barbara (University of Brescia) ;
Matej, Radoslav (Thomayer Hospital in Prague) ;
Ruiz, Agustín (Fundació ACE) ;
Engelborghs, Sebastiaan (University Hospital Antwerp (Bèlgica)) ;
Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ;
De Deyn, Peter P. (University Hospital Antwerp (Bèlgica)) ;
Cruts, Marc (University of Antwerp) ;
Van Broeckhoven, Christine (University of Antwerp) ;
Sleegers, Kristel (University of Antwerp) ;
Goeman, Johan ;
Nuytten, Dirk ;
Vandenbulcke, Mathieu ;
Santens, Patrick 700 1_ ;
Sieben, Anne ;
Dermaut, Bart ;
Versijpt, Jan ;
Michotte, Alex ;
Deryck, Olivier ;
Bergmans, Bruno ;
Willems, Christiana ;
Ivanoiu, Adrian ;
Salmon, Eric ;
Alexopoulos, Panagiotis (Technische Universität München) ;
Sorbi, Sandro ;
Bessi, Valentina ;
Bagnoli, Silvia ;
Santana, Isabel ;
Simões do Couto, Frederico ;
Martins, Madalena ;
Thonberg, Häkan ;
Fratiglioni, Laura ;
Padovani, Alessandro ;
Rohan, Zdenek ;
Razquin, Cristina ;
Lorenzo, Elena ;
Iglesias, Elena ;
Seijo-Martínez, Manuel ;
Rene, Ramon ;
Gascon, Jordi ;
Campdelacreu, Jaume ;
Koutroumani, Maria ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ;
Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
TANK-binding kinase 1 (TBK1) loss-of-function (LoF) mutations are known to cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), often combined with memory deficits early in the disease course. [...]
2018 -  10.1016/j.neurobiolaging.2017.10.012
Neurobiology of Aging, Vol. 62 (february 2018) , p. 245.e1-245.e7
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3 p, 377.7 KB |
No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients
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Baradaran-Heravi, Yalda (University of Antwerp) ;
Dillen, Lubina (University of Antwerp) ;
Nguyen, Hung Phuoc (University of Antwerp) ;
Van Mossevelde, Sara (Antwerp University Hospital (UZA)) ;
Baets, Jonathan (VIB-UAntwerp Center for Molecular Neurology) ;
De Jonghe, Peter (VIB-UAntwerp Center for Molecular Neurology) ;
Engelborghs, Sebastiaan (Hospital Network Antwerp (ZNA)) ;
De Deyn, Peter Paul (Hospital Network Antwerp (ZNA)) ;
Vandenbulcke, Mathieu (University Hospitals Leuven (Bèlgica)) ;
Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ;
Van Damme, Philip (VIB) ;
Cras, Patrick (Antwerp University Hospital (UZA)) ;
Salmon, Eric (University of Liege and Memory Clinic) ;
Synofzik, Matthis (German Center for Neurodegenerative Diseases (DZNE)) ;
Heutink, Peter (German Center for Neurodegenerative Diseases (DZNE)) ;
Wilke, Carlo (German Center for Neurodegenerative Diseases (DZNE)) ;
Simón Sánchez, Javier (German Center for Neurodegenerative Diseases (DZNE)) ;
Rojas-Garcia, Ricard (Institut d'Investigació Biomèdica Sant Pau) ;
Turon-Sans, Janina (Institut d'Investigació Biomèdica Sant Pau) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ;
Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Borroni, Barbara (University of Brescia) ;
Padovani, Alessandro (University of Brescia) ;
Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Diez-Fairen, Monica (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Aguilar, Miquel Chávez (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Gelpi, Ellen (Hospital Clínic i Provincial de Barcelona) ;
Sanchez-Valle, Raquel (Hospital Clínic i Provincial de Barcelona) ;
Borrego-Écija, Sergi (Hospital Clínic i Provincial de Barcelona) ;
Matej, Radoslav (Charles University) ;
Parobkova, Eva (Charles University) ;
Nacmias, Benedetta (University of Florence) ;
Sorbi, Sandro (IRCCS Don Gnocchi) ;
Bagnoli, Silvia (University of Florence) ;
de Mendonça, Alexandre (University of Lisbon) ;
Ferreira, Catarina B. (University of Lisbon) ;
Fraidakis, Matthew Joseph (NeuroRARE Centre for Rare and Genetic Neurological & Neuromuscular Diseases & Neurogenetics) ;
Diehl-Schmid, Janine (Technische Universität München) ;
Alexopoulos, Panagiotis (Technische Universität München) ;
Almeida, Maria (University of Coimbra) ;
Santana, Isabel (University of Coimbra) ;
Van Broeckhoven, Christine (University of Antwerp) ;
Van der Zee, Julie (University of Antwerp) ;
Goeman, Johan (BELNEU Consortium) ;
Nuytten, Dirk (BELNEU Consortium) ;
Sieben, Anne (BELNEU Consortium) ;
De Bleecker, Jan L. (BELNEU Consortium) ;
Santens, Patrick (BELNEU Consortium) ;
Versijpt, Jan (BELNEU Consortium) ;
Michotte, Alex (BELNEU Consortium) ;
Ivanoiu, Adrian (BELNEU Consortium) ;
Deryck, Olivier (BELNEU Consortium) ;
Bergmans, Bruno (BELNEU Consortium) ;
Willems, Christiana (BELNEU Consortium) ;
De Klippel, Nina (BELNEU Consortium) ;
Peeters, Dirk (BELNEU Consortium) ;
Archettim, Silvana (EU EOD Consortium) ;
Bonomi, Elisa (EU EOD Consortium) ;
Piaceri, Irene (EU EOD Consortium) ;
Ferrari, Camilla (EU EOD Consortium) ;
Simões do Couto, Federico (EU EOD Consortium) ;
Verdelho, Ana (EU EOD Consortium) ;
Miltenberger-Miltényi, Gabriel (EU EOD Consortium) ;
Universitat Autònoma de Barcelona
We evaluated the genetic contribution of the T cell-restricted intracellular antigen-1 gene (TIA1) in a European cohort of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) patients. [...]
2018 - 10.1016/j.neurobiolaging.2018.05.005
Neurobiology of Aging, Vol. 69 (september 2018) , p. 293.e9-293.e11
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10 p, 5.6 MB |
PITB : A high affinity transthyretin aggregation inhibitor with optimal pharmacokinetic properties
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Pinheiro, Francisca (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ;
Varejão, Nathalia (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ;
Sánchez-Morales, Adrià (Universitat Autònoma de Barcelona. Departament de Química) ;
Bezerra, Filipa (Instituto de Ciências Biomédicas de Abel Salazar (Porto, Portugal)) ;
Navarro, Susanna (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ;
Velázquez-Campoy, Adrian (Universidad de Zaragoza) ;
Busqué Sánchez, Félix (Universitat Autònoma de Barcelona. Departament de Química) ;
Almeida, Maria Rosário (Instituto de Ciências Biomédicas de Abel Salazar (Porto, Portugal)) ;
Alibes, Ramón (Universitat Autònoma de Barcelona. Departament de Química) ;
Reverter i Cendrós, David (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ;
Pallarès i Goitiz, Irantzu (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ;
Ventura, Salvador (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular)
The aggregation of wild-type transthyretin (TTR) and over 130 genetic TTR variants underlies a group of lethal disorders named TTR amyloidosis (ATTR). TTR chemical chaperones are molecules that hold great promise to modify the course of ATTR progression. [...]
2023 - 10.1016/j.ejmech.2023.115837
European Journal of Medicinal Chemistry, Vol. 261 (may 2023) , p. 115837
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26 p, 4.7 MB |
La respuesta a las epidemias en los siglos XIX y XX : un estudio comparado entre Portugal y Chile
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de Almeida, Maria Antónia Pires (Universidade do Minho)
En tiempos de crisis sanitarias como las que ocurrieron en Portugal en 1854-56, 1899 y 1918, especialmente en Oporto, donde el cólera morbus, la peste bubónica, el tifo exantemático, la gripe neumónica y la viruela mataron a un alto porcentaje de la población, las imágenes de las epidemias en los periódicos y en la literatura científica de la época nos permiten conocer el estado de la ciencia y las respuestas de las autoridades para controlar su difusión. [...]
Images of epidemics in the contemporary press and scientific literature reveal the state of the art in science at the time and the responses of the authorities to control their spread. Portugal underwent health crises in 1854-56, 1899, and 1918, particularly in Oporto, where cholera morbus, bubonic plague, exanthematic typhus, Spanish flu, and smallpox killed large proportions of the population. [...]
2023
Dynamis : Acta Hispanica ad Medicinae Scientiarumque. Historiam Illustrandam, Vol. 43 Núm. 1 (2023) , p. 219-244 (Articles)
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1 p, 172.9 KB |
Author Correction : Repositioning tolcapone as a potent inhibitor of transthyretin amyloidogenesis and associated cellular toxicity
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Sant'Anna, Ricardo (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Gallego Alonso, Pablo (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Robinson, Lei Z. (Scripps Research Institute) ;
Pereira-Henriques, Alda (Instituto de Ciências Biomédicas de Abel Salazar (Porto, Portugal)) ;
Ferreira, Nelson (Instituto de Ciências Biomédicas de Abel Salazar (Porto, Portugal)) ;
Pinheiro, Francisca (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Esperante, Sebastián (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Pallarès i Goitiz, Irantzu (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ;
Huertas, Oscar (SOM-Biotech) ;
Almeida, Maria Rosário (Instituto de Ciências Biomédicas de Abel Salazar (Porto, Portugal)) ;
Reixach, Natàlia (Scripps Research Institute) ;
Insa, Raul (SOM-Biotech) ;
Velazquez-Campoy, Adrián (Universidad de Zaragoza. Departamento de Bioquímica y Biología Molecular y Celular) ;
Reverter i Cendrós, David (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ;
Reig, Núria (SOM-Biotech) ;
Ventura, Salvador (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular)
2023 - 10.1038/s41467-023-36239-z
Nature communications, Vol. 14 (February 2023) , art. 582
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8 p, 116.8 KB |
Reforma do ensino médio : a institucionalização do apartheid social na educação
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Moraes, Carmen Sylvia Vidigal (Universidade de São Paulo) ;
Rambla, Xavier 1966- (Universitat Autònoma de Barcelona. Departament de Sociologia) ;
Ferretti, Celso João (Centro de Estudos Educação e Sociedade) ;
Pino, Ivany Rodrigues (Universidade Estadual de Campinas (Brasil)) ;
Leher, Roberto (Universidade Federal do Rio de Janeiro) ;
Almeida, Luana Costa (Universidade Federal de Sâo Carlos) ;
Ximenes, Salomão Barros (Universidade Federal do ABC (Brasil)) ;
Dalbosco, Claudio Almir (Universidade de Passo Fundo) ;
Souza, Sandra Maria Zákia Lian (Universidade de São Paulo) ;
Zuin, Antônio Alvaro Soares (Universidade Federal de Sâo Carlos) ;
Silveira, Adriana Aparecida Dragone (Universidade Federal do Paraná) ;
de Almeida, Ana Maria Fonseca (Universidade Estadual de Campinas (Brasil)) ;
Trevisan, Anderson Ricardo (Universidade Estadual de Campinas (Brasil)) ;
Mazza, Débora (Universidade Estadual de Campinas (Brasil)) ;
Lima, Licínio Carlos Viana da Silva (University of Minho) ;
Amaral, Nelson Cardoso (Universidade Federal de Goiás) ;
Goergen, Pedro (Universidade Estadual de Campinas (Brasil)) ;
Sisto, Vicente (Pontificia Universidad Católica de Valparaíso)
2022 - 10.1590/es.261875
Educacao e Sociedade, Vol. 43 (2022) , p. e261875
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19 p, 6.1 MB |
Development of a highly potent transthyretin amyloidogenesis inhibitor : design, synthesis, and evaluation
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Pinheiro, Francisca (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ;
Pallarès i Goitiz, Irantzu (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ;
Peccati, Francesca (Universitat Autònoma de Barcelona. Departament de Química) ;
Sánchez-Morales, Adrià (Universitat Autònoma de Barcelona. Departament de Química) ;
Varejão, Nathalia (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Bezerra, Filipa (Universidade do Porto. Instituto de Biologia Molecular e Celular) ;
Ortega-Alarcon, David (Instituto de Investigación Sanitaria de Aragón) ;
González, Danilo (Universitat Autònoma de Barcelona. Departament de Química) ;
Osorio, Marcelo (Universitat Autònoma de Barcelona. Departament de Química) ;
Navarro, Susanna (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Velázquez-Campoy, Adrian (Instituto de Investigación Sanitaria de Aragón) ;
Almeida, Maria Rosário (Instituto de Ciências Biomédicas de Abel Salazar (Porto, Portugal)) ;
Reverter i Cendrós, David (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Busqué Sánchez, Félix (Universitat Autònoma de Barcelona. Departament de Química) ;
Alibes, Ramón (Universitat Autònoma de Barcelona. Departament de Química) ;
Sodupe Roure, Mariona (Universitat Autònoma de Barcelona. Departament de Química) ;
Ventura, Salvador (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí")
Transthyretin amyloidosis (ATTR) is a group of fatal diseases described by the misfolding and amyloid deposition of transthyretin (TTR). Discovering small molecules that bind and stabilize the TTR tetramer, preventing its dissociation and subsequent aggregation, is a therapeutic strategy for these pathologies. [...]
2022 - 10.1021/acs.jmedchem.2c01195
Journal of Medicinal Chemistry, Vol. 65, issue 21 (Nov. 2022) , p. 14673-14691
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13 p, 1.1 MB |
Repositioning tolcapone as a potent inhibitor of transthyretin amyloidogenesis and associated cellular toxicity
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Sant'Anna, Ricardo (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Gallego Alonso, Pablo (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Robinson, Lei Z. (Scripps Research Institute) ;
Pereira-Henriques, Alda (Instituto de Ciências Biomédicas de Abel Salazar (Porto, Portugal)) ;
Ferreira, Nelson (Instituto de Ciências Biomédicas de Abel Salazar (Porto, Portugal)) ;
Pinheiro, Francisca (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Esperante, Sebastián (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Pallarès i Goitiz, Irantzu (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ;
Huertas, Oscar (SOM-Biotech) ;
Almeida, Maria Rosário (Instituto de Ciências Biomédicas de Abel Salazar (Porto, Portugal)) ;
Reixach, Natàlia (Scripps Research Institute) ;
Insa, Raul (SOM-Biotech) ;
Velazquez-Campoy, Adrián (Universidad de Zaragoza. Departamento de Bioquímica y Biología Molecular y Celular) ;
Reverter i Cendrós, David (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ;
Reig, Núria (SOM-Biotech) ;
Ventura, Salvador (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular)
Transthyretin (TTR) is a plasma homotetrameric protein implicated in fatal systemic amyloidoses. TTR tetramer dissociation precedes pathological TTR aggregation. Native state stabilizers are promising drugs to treat TTR amyloidoses. [...]
2016 - 10.1038/ncomms10787
Nature communications, Vol. 7 (2016) , art. 10787
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12 p, 297.3 KB |
Instrumentos padronizados na avaliação da impulsividade e comportamentos de risco em adolescentes : revisão sistemática
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Schneider, Andreia Mello de Almeida (Universidade Federal do Rio Grande do Sul) ;
Pante, Marina (Universidade Federal do Rio Grande do Sul) ;
Almeida, Rosa Maria Martins de (Universidade Federal do Rio Grande do Sul) ;
Bandeira, Denise Ruschel (Universidade Federal do Rio Grande do Sul)
A impulsividade, própria da adolescência, é marcada por um aumento de comportamen-tos de risco (CR), que podem estar associados a desfechos negativos na vida. Para conhe-cer instrumentos de avaliação padronizados voltados para adolescentes, em estudos que avaliam a relação entre impulsividade e comportamento de risco (sexo de risco e uso de drogas ilícitas e álcool) foi conduzida uma revisão sistemática. [...]
Impulsiveness, typical of adolescence, is marked by an increase in risk behaviors, which may be associated with negative outcomes in life. To know standardized assessment tools for adolescents, a systematic review was conducted in studies that evaluated the relation-ship between impulsivity and risk behavior (sex at risk and use of illicit drugs and alco-hol). [...]
2019 - 10.5565/rev/qpsicologia.1491
Quaderns de psicologia, Vol. 21 Núm. 2 (2019) , e. 1491 (Revisiones)
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10.
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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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