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TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
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van der Zee, Julie (University of Antwerp) ;
Gijselinck, Ilse (University of Antwerp) ;
Van Mossevelde, Sara (University Hospital Antwerp (Bèlgica)) ;
Perrone, Federica (University of Antwerp) ;
Dillen, Lubina (University of Antwerp) ;
Heeman, Bavo (University of Antwerp) ;
Bäumer, Veerle (University of Antwerp) ;
Engelborghs, Sebastiaan (University Hospital Antwerp (Bèlgica)) ;
De Bleecker, Jan (Universitair Ziekenhuis Gent) ;
Baets, Jonathan (University Hospital Antwerp (Bèlgica)) ;
Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Rojas-Garcia, Ricard (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 and Karolinska Institutet (Suècia)) ;
Thonberg, Håkan (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
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 (University Hospital Antwerp (Bèlgica)) ;
Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ;
De Jonghe, Peter (University Hospital Antwerp (Bèlgica)) ;
De Deyn, Peter Paul (University Hospital Antwerp (Bèlgica)) ;
Sleegers, Kristel (University of Antwerp) ;
Cruts, Marc (University of Antwerp) ;
Van Broeckhoven, Christine (University of Antwerp) ;
Goeman, Johan (University Hospital Antwerp (Bèlgica)) ;
Nuytten, Dirk (University Hospital Antwerp (Bèlgica)) ;
Smets, Katrien (University Hospital Antwerp (Bèlgica)) ;
Robberecht, Wim (University Hospitals Gasthuisberg (Leuven, Bélgica)) ;
Damme, Philip Van (University Hospitals Gasthuisberg (Leuven, Bélgica)) ;
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 (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
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) ;
Llado Plarrumani, 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 (Charles University. Faculty of Medicine in Hradec Králové) ;
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
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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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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
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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) ;
Sanchez-Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Antonell, Anna (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Rami Gonzalez, Lorena (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Molinuevo, José Luis (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 (University Hospital Antwerp (Bèlgica)) ;
Engelborghs, Sebastiaan (University Hospital Antwerp (Bèlgica)) ;
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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Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort
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Cacace, Rita (University of Antwerp) ;
Van den Bossche, Tobi (University Hospital Antwerp (Bèlgica)) ;
Engelborghs, Sebastiaan (University Hospital Antwerp (Bèlgica)) ;
Geerts, Nathalie (University of Antwerp) ;
Laureys, Annelies (University of Antwerp) ;
Dillen, Lubina (University of Antwerp) ;
Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Thonberg, Håkan (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Chiang, Huei-Hsin (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
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 Biomèdiques August Pi i Sunyer) ;
Llado Plarrumani, Albert (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Gelpi, Ellen (Institut d'Investigacions Biomèdiques 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) ;
Clarimón, Jordi (Universitat Autònoma de Barcelona) ;
Lleó Bisa, Alberto (Universitat Autònoma de Barcelona) ;
Fortea, Juan (Universitat Autònoma de Barcelona) ;
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 in Prague) ;
Rohan, Zdenek (Third Medical Faculty of Charles University in Prague) ;
Vandenbulcke, Mathieu (University of Leuven) ;
Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ;
De Deyn, Peter Paul (University Hospital Antwerp (Bèlgica)) ;
Cras, Patrick (University Hospital Antwerp (Bèlgica)) ;
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
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Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease
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Pera, Marta (Institut d'Investigació Biomèdica Sant Pau) ;
Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ;
Sanchez-Valle, Raquel (Hospital Clínic i Provincial de Barcelona) ;
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) ;
Llado Plarrumani, Albert (Hospital Clínic i Provincial de Barcelona) ;
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 Luis (Hospital Clínic i Provincial de Barcelona) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Ferrer, Isidro (Institut d'Investigació Biomèdica de Bellvitge) ;
Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
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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20 p, 1.8 MB |
La documentación medieval del sur de Ávila y la variación interna del español : el corpus CODOMSA
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Grande López, Clara (Universidad de Salamanca) ;
Martín Aizpuru, Leyre (Universidad de Salamanca) ;
Sánchez González de Herrero, María de las Nieves (Universidad de Salamanca) ;
Sánchez Romo, Raquel (Universidad de Salamanca) ;
Marcet Rodríguez, Vicente J. (Universidad de Salamanca)
El Corpus de Documentación Medieval del Sur de Ávila (CODOMSA), desarrollado por el Grupo de Estudios de Documentos Históricos y Textos Antiguos de la Universidad de Salamanca (GEDHYTAS), pretende servir de fuente de estudio para una de las zonas que marcan la transición entre el castellano septentrional y las variedades meridionales de la Península. [...]
The Corpus de Documentación Medieval del Sur de Ávila (CODOMSA), developed by the Group of Studies of Historical Documents and Old Texts of the University of Salamanca (GEDHYTAS), aims to serve as a study source for one of the areas that mark the transition between northern Castilian and the southern linguistic varieties of the Iberian Peninsula. [...]
2017 - 10.5565/rev/scriptum.85
Scriptum digital, Núm. 6 (2017) , p. 155-174 (Articles)
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Intervención mediante feedback auditivo para la mejora del equilibrio en mujeres que realizan actividad física
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Pérez Córdoba, Eugenio A. (Universidad de Sevilla. Departamento de Psicología Experimental) ;
Sobrino Sánchez, Raquel (Universidad de Sevilla. Departamento de Fisioterapia) ;
Estrada Contreras, Omar (Universidad de Sevilla. Departamento de Psicología Experimental) ;
Chillón Martínez, Raquel (Universidad de Sevilla. Departamento de Fisioterapia)
El equilibrio es un aspecto fundamental para las actividades de la vida diaria y para el deporte. El deterioro en esta capacidad puede ocasionar trastornos o lesiones por caídas. El objetivo de esta intervención es determinar la influencia de un programa de ejercicios propioceptivos con feedback externo auditivo sobre la mejora del equilibrio. [...]
Balance is an essential aspect of daily living and sport appearance. The deterioration of this capacity may cause disorder or injury from falls. The objective of this intervention is to determine the influence of proprioceptive exercise program with external auditory feedback on balance improvement. [...]
O equilíbrio é um aspecto fundamental para as actividades da vida diária e para o desporto. A deterioração desta capacidade pode originar perturbações ou lesões devido a quedas. O objectivo desta intervenção é determinar a influência de um programa de exercícios propioceptivos com feedback auditivo externo sobre a melhoria do equilíbrio. [...]
2014
Revista de psicología del deporte, Vol. 23 Núm. 2 (2014) , p. 327-335
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