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Articles, 1 registres trobats
Documents de recerca, 3 registres trobats
Articles 1 registres trobats  
1.
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  

Documents de recerca 3 registres trobats  
1.
215 p, 5.2 MB Utilidad clínica de la tomografía de coherencia óptica (OCT) en el diagnóstico del deterioro cognitivo tipo Alzhéimer / Sánchez Ruiz, Domingo ; Castilla Céspedes, Miguel, dir. ; Ruiz Laza, Agustín, dir.
INTRODUCCIÓ La malaltia d'Alzheimer (EA), la major causa mundial de demència, és incurable actualment. El seu diagnòstic precoç en fase de deteriorament cognitiu lleu (DCL) és clau per aconseguir un tractament amb millors perspectives d'èxit. [...]
INTRODUCCIÓN La enfermedad de Alzheimer (EA), la mayor causa mundial de demencia, es incurable actualmente. Su diagnóstico precoz en fase de deterioro cognitivo leve (DCL) se antoja clave para lograr un tratamiento con mejores perspectivas de éxito. [...]
INTRODUCTION Alzheimer's disease (AD), the main cause of dementia in the world, is currently incurable. Its early diagnosis in the phase of mild cognitive impairment (MCI) seems key to achieving a treatment with better perspectives of success. [...]

2020  
2.
255 p, 9.2 MB The genetic basis of Alzheimer's disease and its related endophenotypes / Moreno Grau, Sonia ; Ruiz Laza, Agustín, dir. ; Comella i Carnicé, Joan Xavier, 1963-, dir. ; Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular
La malaltia d'Alzheimer (MA) és la principal causa de demència. S'ha suggerit que la MA és precedeix per un llarg període, que inclou una etapa pre-clínica i altra prodòmica. La MA presenta un fort component genètic. [...]
La enfermedad de Alzheimer (EA) es la principal causa de demencia. La EA está precedida por un largo periodo, que incluye una etapa preclínica y otra prodrómica. La EA presenta un fuerte componente genético. [...]
Alzheimer's disease (AD) is the leading cause of dementia worldwide. Although clinical symptoms mainly appear in the elderly, it is suggested that AD is preceded by a long continuum, which includes preclinical and prodromal stages. [...]

[Barcelona] : Universitat Autònoma de Barcelona, 2020.  
3.
226 p, 4.2 MB Factores genéticos asociados a la degeneración lobar frontotemporal. Análisis de susceptibilidad genética y correlación fenotipo-genotipo / Hernández Ruiz, Mª Isabel ; Ruiz Laza, Agustín, dir. ; Boada, Mercè, dir. ; Blesa Gonzalez, Rafael, dir. ; Álvarez Sabin, José ; Universitat Autònoma de Barcelona. Departament de Medicina
La Degeneración Lobar Frontotemporal es un grupo heterogéneo de enfermedades, la segunda causa más frecuente de demencia en edad presenil y la que presenta el mayor número de casos hereditarios. Se caracteriza por una gran variabilidad clínica, genética e histopatológica. [...]
Frontotemporal Lobar Degeneration is a heterogeneous group of disorders, the second most frequent cause of early dementia and the one with the highest number of inherited cases. It is characterized by considerable variability in clinical, genetic and histopathologic features. [...]

[Barcelona] : Universitat Autònoma de Barcelona, 2015  

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