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1.
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  
2.
12 p, 2.7 MB Long runs of homozygosity are associated with Alzheimer's disease / Moreno-Grau, Sonia (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Fernández, Maria Victoria (Washington University School of Medicine. Hope Center for Neurological Disorders) ; de Rojas, Itziar (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Garcia-González, Pablo (Institut Català de Neurociènces Aplicades) ; Hernández, Isabel (Institut Català de Neurociènces Aplicades) ; Farias, Fabiana (Washington University School of Medicine. Hope Center for Neurological Disorders) ; Budde, John P. (Washington University School of Medicine. Hope Center for Neurological Disorders) ; Quintela, Inés (Universidade de Santiago de Compostela. Grupo de Medicina Xenómica) ; Madrid, Laura (Centro Andaluz de Estudios Bioinformáticos-CAEBI) ; González-Pérez, Antonio (Centro Andaluz de Estudios Bioinformáticos-CAEBI) ; Montrreal, Laura (Institut Català de Neurociènces Aplicades) ; Alarcón-Martín, Emilio (Institut Català de Neurociènces Aplicades) ; Alegret, Montserrat (Institut Català de Neurociènces Aplicades) ; Maroñas, Olalla (Universidade de Santiago de Compostela. Grupo de Medicina Xenómica) ; Pineda, Juan Antonio (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ; Macías, Juan (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ; Marquié, Marta (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Valero, Sergi (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Benaque, Alba (Institut Català de Neurociènces Aplicades) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Bullido, Maria Jesus (Instituto de Investigación Hospital Universitario La Paz) ; García-Ribas, Guillermo (Hospital Universitario Ramón y Cajal (Madrid)) ; Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Sánchez-Juan, Pascual (Universidad de Cantabria) ; Álvarez, Victoria (Instituto de Investigación Biosanitaria del Principado de Asturias-ISPA (Oviedo)) ; Piñol-Ripoll, Gerard (Institut de Recerca Biomèdica de Lleida) ; García-Alberca, Jose María (Instituto Andaluz de Neurociencia) ; Royo, José Luis (Universidad de Málaga. Facultad de Medicina) ; Franco-Macías, Emilio (Instituto de Biomedicina de Sevilla (IBiS)) ; Mir, Pablo (Instituto de Biomedicina de Sevilla (IBiS)) ; Calero, Miguel (Instituto de Salud Carlos III) ; Medina, Miguel (Queen Sofia Foundation Alzheimer Center) ; Rábano, Alberto (BT-CIEN (Madrid)) ; Ávila, Jesús (Centro de Biología Molecular "Severo Ochoa" (CBMSO)) ; Antúnez, Carmen (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ; Real, Luis Miguel (Universidad de Málaga. Facultad de Medicina) ; Orellana, Adelina (Institut Català de Neurociènces Aplicades) ; Carracedo, Ángel (Fundación Pública Galega de Medicina Xenómica) ; Sáez, María Eugenia (Centro Andaluz de Estudios Bioinformáticos-CAEBI) ; Tárraga, Lluís (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Boada, Mercè (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Cruchaga, Carlos (Washington University School of Medicine. Hope Center for Neurological Disorders) ; Ruiz, Agustín (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Universitat Autònoma de Barcelona
Long runs of homozygosity (ROH) are contiguous stretches of homozygous genotypes, which are a footprint of inbreeding and recessive inheritance. The presence of recessive loci is suggested for Alzheimer's disease (AD); however, their search has been poorly assessed to date. [...]
2021 - 10.1038/s41398-020-01145-1
Translational psychiatry, Vol. 11 (february 2021)  
3.
13 p, 722.8 KB A C6orf10 / LOC101929163 locus is associated with age of onset in C9orf72 carriers / Zhang, Ming (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ; Ferrari, Raffaele (University College London. Institute of Neurology) ; Tartaglia, Maria Carmela (Department of Medicine, Division of Neurology, University of Toronto, Toronto, ON, Canada) ; Keith, Julia (Sunnybrook Health Sciences Centre, University of Toronto, Toronto, ON, Canada) ; Surace, Ezequiel I (Instituto de Investigaciones Neurológicas Dr. Raúl Carrea (Buenos Aires, Argentina)) ; Wolf, Uri (University of Toronto. Department of Psychiatry) ; Sato, Christine (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ; Grinberg, Mark (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ; Liang, Yan (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ; Xi, Zhengrui (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ; Dupont, Kyle (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ; McGoldrick, Philip (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ; Weichert, Anna (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ; McKeever, Paul M (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ; Schneider, Raphael (Sunnybrook Health Sciences Centre, University of Toronto, Toronto, ON, Canada) ; McCorkindale, Michael D (University College London. Institute of Neurology) ; Manzoni, Claudia (School of Pharmacy, University of Reading, Whiteknights, Reading, UK) ; Rademakers, Rosa (Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA) ; Graff-Radford, Neill R (Department of Neurology, Mayo Clinic, Jacksonville, FL, USA) ; Dickson, Dennis W (Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA) ; Parisi, Joseph E (Department of Laboratory Medicine and Pathology and Department of Neurology, Mayo Clinic, Rochester, MN, USA) ; Boeve, Bradley F (Department of Neurology, Mayo Clinic, Rochester, MN, USA) ; Petersen, Ronald C (Department of Neurology, Mayo Clinic, Rochester, MN, USA) ; Miller, Bruce L (Department of Neurology, University of California San Francisco Memory and Aging Center, San Francisco, CA, USA) ; Seeley, William W (Department of Neurology and Department of Pathology, University of California San Francisco Memory and Aging Center, San Francisco, CA, USA) ; van Swieten, John C (Department of Neurology, Erasmus MC, Rotterdam, The Netherlands) ; van Rooij, Jeroen (Department of Neurology, Erasmus MC, Rotterdam, The Netherlands) ; Pijnenburg, Yolande (Amsterdam UMC. University Medical Center) ; van der Zee, Julie (Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ; Van Broeckhoven, Christine (Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ; Le Ber, Isabelle (Reference Center for Rare and Young Dementias, Institute of Memory and Alzheimer's Disease (IM2A), Department of Neurology, Hopital Pitié-Salpêtrière, Paris, France) ; Van Deerlin, Vivianna (Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA) ; Suh, EunRan (Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA) ; Rohrer, Jonathan D (University College London. Institute of Neurology) ; Mead, Simon (University College London. Institute of Prion Diseases) ; Graff, Caroline (Genetics Unit, Theme Aging, Karolinska University Hospital, Stockholm, Sweden) ; Öijerstedt, Linn (Genetics Unit, Theme Aging, Karolinska University Hospital, Stockholm, Sweden) ; Pickering-Brown, Stuart (Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, University of Manchester, UK) ; Rollinson, Sara (Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, University of Manchester, UK) ; Rossi, Giacomina (Division of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy) ; Tagliavini, Fabrizio (Scientific Directorate, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy) ; Brooks, William S (Neuroscience Research Australia and Prince of Wales Clinical School, University of New South Wales, Sydney, Australia) ; Dobson-Stone, Carol (School of Medical Sciences, University of New South Wales, Sydney, Australia) ; Halliday, Glenda M (University of Sydney. Brain and Mind Centre) ; Hodges, John R (Australian Research Council Centre of Excellence in Cognition and its Disorders, Sydney, Australia) ; Piguet, Olivier (School of Psychology and Brain and Mind Centre, University of Sydney, Sydney, Australia) ; Binetti, Giuliano (MAC Memory Center, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy) ; Benussi, Luisa (Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy) ; Ghidoni, Roberta (Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy) ; Nacmias, Benedetta (Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy) ; Sorbi, Sandro (IRCCS Don Gnocchi, Florence, Italy) ; Bruni, Amalia C (Regional Neurogenetic Centre, Lamezia Terme, Azienda Sanitaria Provinciale Catanzaro, Italy) ; Galimberti, Daniela (Neurodegenerative Disease Unit, University of Milan, Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy) ; Scarpini, Elio (Neurodegenerative Disease Unit, University of Milan, Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy) ; Rainero, Innocenzo (Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy) ; Rubino, Elisa (Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Lleó, Alberto (Universitat Autònoma de Barcelona. Departament de Medicina) ; Ruiz, Agustin (Institut Català de Neurociènces Aplicades) ; Hernández, Isabel (Institut Català de Neurociènces Aplicades) ; Pastor, Pau (Fundació per la Recerca Biomèdica i Social Mútua de Terrassa, Terrassa, Barcelona, Spain) ; Diez-Fairen, Monica (Fundació per la Recerca Biomèdica i Social Mútua de Terrassa, Terrassa, Barcelona, Spain) ; Borroni, Barbara (Centre for Neurodegenerative Disorders, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy) ; Pasquier, Florence (National Reference Center for Young Onset Dementia, Neurology Department, Centre Hospitalier Régional Universitaire de Lille, University Hospital, Inserm U1171, DistAlz, Lille, France) ; Deramecourt, Vincent (National Reference Center for Young Onset Dementia, Neurology Department, Centre Hospitalier Régional Universitaire de Lille, University Hospital, Inserm U1171, DistAlz, Lille, France) ; Lebouvier, Thibaud (National Reference Center for Young Onset Dementia, Neurology Department, Centre Hospitalier Régional Universitaire de Lille, University Hospital, Inserm U1171, DistAlz, Lille, France) ; Perneczky, Robert (Imperial College London. School of Public Health) ; Diehl-Schmid, Janine (Department of Psychiatry and Psychotherapy, Technische Universität München, Munich, Germany) ; Grafman, Jordan (Weinberg College of Arts and Sciences Northwestern University (Chicago, Estats Units d'Amèrica)) ; Huey, Edward D (The Taub Institute for Research on Alzheimer's Disease and the Aging Brain (Columbia, Estats Units d'Amèrica)) ; Mayeux, Richard (The Gertrude H. Sergievsky Center, The Departments of Neurology, Psychiatry, Epidemiology, School of Public Health, Columbia University, New York, NY, USA) ; Nalls, Michael A (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Hernandez, Dena (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Singleton, Andrew (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Momeni, Parastoo (Rona Holdings, Silicon Valley, CA, USA) ; Zeng, Zhen (Merck & Co., Inc, Kenilworth, NJ, USA) ; Hardy, John (University College London. Institute of Neurology) ; Robertson, Janice (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ; Zinman, Lorne (Sunnybrook Health Sciences Centre, University of Toronto, Toronto, ON, Canada) ; Rogaeva, Ekaterina (Department of Medicine, Division of Neurology, University of Toronto, Toronto, ON, Canada)
Discovery of disease age-of-onset modifiers is important for clinical trials and drug design. Zhang et al. perform a genome-wide analysis of epigenetic functional polymorphisms and identify an association between the C6orf10/LOC101929163 locus and age of FTD/ALS onset. [...]
2018 - 10.1093/brain/awy238
Brain, Vol. 141 (september 2018) , p. 2895-2907  
4.
14 p, 1.1 MB Association between retinal thickness and β-amyloid brain accumulation in individuals with subjective cognitive decline : Fundació ACE Healthy Brain Initiative / Marquié, Marta (Fundació ACE Institut Català de Neurociències Aplicades) ; Valero, Sergi (Fundació ACE Institut Català de Neurociències Aplicades) ; Castilla Marti, Miguel (Parc de Salut MAR de Barcelona) ; Martínez, Joan (Fundació ACE Institut Català de Neurociències Aplicades) ; Rodríguez-Gómez, Octavio (Fundació ACE Institut Català de Neurociències Aplicades) ; Sanabria, Ángela (Fundació ACE Institut Català de Neurociències Aplicades) ; Tartari, Juan Pablo (Fundació ACE Institut Català de Neurociències Aplicades) ; Monté-Rubio, Gemma C. (Fundació ACE Institut Català de Neurociències Aplicades) ; Sotolongo-Grau, Oscar (Fundació ACE Institut Català de Neurociències Aplicades) ; Alegret, Montserrat (Fundació ACE Institut Català de Neurociències Aplicades) ; Pérez-Cordón, Alba (Fundació ACE Institut Català de Neurociències Aplicades) ; Roberto, Natalia (Fundació ACE Institut Català de Neurociències Aplicades) ; de Rojas, Itziar (Fundació ACE Institut Català de Neurociències Aplicades) ; Moreno-Grau, Sonia (Fundació ACE Institut Català de Neurociències Aplicades) ; Montrreal, Laura (Fundació ACE Institut Català de Neurociències Aplicades) ; Hernández, Isabel (Fundació ACE Institut Català de Neurociències Aplicades) ; Rosende-Roca, Maitee (Fundació ACE Institut Català de Neurociències Aplicades) ; Mauleón, Ana (Fundació ACE Institut Català de Neurociències Aplicades) ; Vargas, Liliana (Fundació ACE Institut Català de Neurociències Aplicades) ; Abdelnour, Carla (Fundació ACE Institut Català de Neurociències Aplicades) ; Gil Navarro, Silvia (Fundació ACE Institut Català de Neurociències Aplicades) ; Esteban de Antonio, Ester (Fundació ACE Institut Català de Neurociències Aplicades) ; Espinosa, Ana (Fundació ACE Institut Català de Neurociències Aplicades) ; Ortega, Gemma (Fundació ACE Institut Català de Neurociències Aplicades) ; Lomeña, Francisco (Hospital Clínic i Provincial de Barcelona) ; Pavia, Javier (Hospital Clínic i Provincial de Barcelona) ; Vivas, Assumpta (Clínica Corachan, Barcelona) ; Tejero, Miguel Ángel (Clínica Corachan, Barcelona) ; Gómez-Chiari, Marta (Clínica Corachan, Barcelona) ; Simó Canonge, Rafael (Universitat Autònoma de Barcelona. Departament de Medicina) ; Ciudin, Andreea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Hernández Pascual, Cristina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Orellana, Adelina (Fundació ACE Institut Català de Neurociències Aplicades) ; Benaque, Alba (Fundació ACE Institut Català de Neurociències Aplicades) ; Ruiz, Agustín (Fundació ACE Institut Català de Neurociències Aplicades) ; Tárraga, Lluís (Fundació ACE Institut Català de Neurociències Aplicades) ; Boada, Mercè (Fundació ACE Institut Català de Neurociències Aplicades)
Optical coherence tomography (OCT) of the retina is a fast and easily accessible tool for the quantification of retinal structural measurements. Multiple studies show that patients with Alzheimer's disease (AD) exhibit thinning in several retinal layers compared to age-matched controls. [...]
2020 - 10.1186/s13195-020-00602-9
Alzheimer's research & therapy, Vol. 12 (march 2020)  
5.
14 p, 1.2 MB A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity / van der Lee, Sven J. (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Clinical Genetics) ; Conway, Olivia J. (Mayo Clinic Florida. Department of Neuroscience) ; Jansen, Iris (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience) ; Carrasquillo, Minerva M. (Mayo Clinic Florida. Department of Neuroscience) ; Kleineidam, Luca (Uniklinik Köln (Colònia, Alemanya)) ; van den Akker, Erik (Delft University of Technology. Pattern Recognition and Bioinformatics) ; Hernández, Isabel (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; van Eijk, Kristel R. (University Medical Center Utrecht. Department of Neurology, Brain Center Rudolf Magnus) ; Stringa, Najada (Vrije Universiteit Amsterdam) ; Chen, Jason A. (University of California. Interdepartmental Program in Bioinformatics) ; Zettergren, Anna (Neuropsychiatric Epidemiology Unit, Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy, Centre for Ageing and Health (AgeCap) at the University of Gothenburg) ; Andlauer, Till F. M. (German Competence Network Multiple Sclerosis (KKNMS)) ; Diez-Fairen, Monica (Fundacio per la Recerca Biomedica I Social Mutua Terrassa) ; Simon-Sanchez, Javier (University of Tübingen. Hertie Institute for Clinical Brain Research) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Zetterberg, Henrik (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Nygaard, Marianne (University of Southern Denmark. The Danish Aging Research Center, Epidemiology, Biostatistics and Biodemography, Department of Public Health) ; Blauwendraat, Cornelis (National Institute of Neurological Disorders and Stroke. Neurodegenerative Diseases Research Unit) ; Savage, Jeanne E. (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience) ; Mengel-From, Jonas (University of Southern Denmark. Epidemiology, Biostatistics and Biodemography, Department of Public Health) ; Moreno-Grau, Sonia (Institut Català de Neurociènces Aplicades) ; Wagner, Michael (DZNE, German Center for Neurodegenerative Diseases) ; Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ; Keogh, Michael J. (University of Cambridge. Department of Clinical Neurosciences) ; Blennow, Kaj (Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg. Department of Psychiatry and Neurochemistry) ; Skoog, Ingmar (Neuropsychiatric Epidemiology Unit, Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy, Centre for Ageing and Health (AgeCap) at the University of Gothenburg) ; Friese, Manuel A. (Universitätsklinikum Hamburg-Eppendorf. Institut für Neuroimmunologie und Multiple Sklerose (INIMS)) ; Pletnikova, Olga (Johns Hopkins University Medical Center. Department of Pathology (Neuropathology)) ; Zulaica, Miren (Instituto Biodonostia) ; Lage, Carmen (IDIVAL) ; de Rojas, Itziar (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Riedel-Heller, Steffi (University of Leipzig. Institute of Social Medicine, Occupational Health and Public Health (ISAP)) ; Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ; Wei, Wei (University of Cambridge. Department of Clinical Neurosciences) ; Jeune, Bernard (University of Southern Denmark. Epidemiology, Biostatistics and Biodemography, Department of Public Health) ; Orellana, Adelina (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Then Bergh, Florian (University of Leipzig. Department of Neurology) ; Wang, Xue (Mayo Clinic Florida. Department of Neuroscience) ; Hulsman, Marc (Delft University of Technology. Pattern Recognition and Bioinformatics) ; Beker, Nina (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ; Tesi, Niccolo (Delft University of Technology. Pattern Recognition and Bioinformatics) ; Morris, Christopher M. (Newcastle University. Newcastle Brain Tissue Resource, Edwardson Building, Institute of Neuroscience) ; Indakoetxea, Begoña (Cognitive Disorders Unit, Department of Neurology, Hospital Universitario San Sebastian, San Sebastian, Spain) ; Collij, Lyduine E. (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Radiology and Nuclear Medicine, Amsterdam Neuroscience) ; Scherer, Martin (Department of Primary Medical Care, Center for Psychosocial Medicine, University Medical Center, Hamburg-Eppendorf, Germany) ; Morenas-Rodríguez, Estrella (Institut d'Investigació Biomèdica Sant Pau) ; Ironside, James W. (University of Edinburgh. Centre for Clinical Brain Sciences) ; van Berckel, Bart N. M. (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Radiology and Nuclear Medicine, Amsterdam Neuroscience) ; Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ; Wiendl, Heinz (University of Münster. Department of Neurology, Klinik für Neurologie mit Institut für Translationale Neurologie) ; Strickland, Samantha L. (Mayo Clinic Florida. Department of Neuroscience) ; Pastor, Pau (Fundacio per la Recerca Biomedica I Social Mutua Terrassa) ; Rodríguez Rodríguez, Eloy (IDIVAL) ; Boeve, Bradley F. (Mayo Clinic Minnesota. Department of Neurology) ; Petersen, Ronald C. (Mayo Clinic Minnesota. Department of Neurology) ; Ferman, Tanis J. (Mayo Clinic Florida. Department of Psychiatry and Psychology) ; van Gerpen, Jay A. (Mayo Clinic Florida. Department of Neurology) ; Reinders, Marcel J. T. (Delft University of Technology. Delft Bioinformatics Lab) ; Uitti, Ryan J. (Mayo Clinic Florida. Department of Neurology) ; Tárraga, Lluís (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Maier, Wolfgang (DZNE, German Center for Neurodegenerative Diseases) ; Dols-Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ; Kawalia, Amit (Uniklinik Köln (Colònia, Alemanya)) ; Dalmasso, Maria Carolina (Fundación Instituto Leloir (Buenos Aires, Argentina)) ; Boada, Mercè (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Zettl, Uwe K. (University of Rostock. Department of Neurology) ; van Schoor, Natasja M. (Vrije Universiteit Amsterdam) ; Beekman, Marian (Leiden University Medical Center. Molecular Epidemiology) ; Allen, Mariet (Mayo Clinic Florida. Department of Neuroscience) ; Masliah, Eliezer (National Institute on Aging (Estats Units d'Amèrica)) ; de Munain, Adolfo López (Department of Neurology, Hospital Universitario San Sebastian, San Sebastian, Spain) ; Pantelyat, Alexander (Johns Hopkins University Medical Center. Department of Neurology) ; Wszolek, Zbigniew K. (Mayo Clinic Florida. Department of Neurology) ; Ross, Owen A. (Mayo Clinic Florida. Department of Neuroscience) ; Dickson, Dennis W. (Mayo Clinic Florida. Department of Neuroscience) ; Graff-Radford, Neill R. (Mayo Clinic Florida. Department of Neurology) ; Knopman, David (Mayo Clinic Minnesota. Department of Neurology) ; Rademakers, Rosa (Mayo Clinic Florida. Department of Neuroscience) ; Lemstra, Afina W. (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ; Pijnenburg, Yolande A. L. (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ; Scheltens, Philip (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ; Gasser, Thomas (University of Tuebingen. Center of Neurology, Department of Neurodegenerative diseases, Hertie-Institute for Clinical Brain Research) ; Chinnery, Patrick F (University of Cambridge. MRC Mitochondrial Biology Unit) ; Hemmer, Bernhard (Munich Cluster for Systems Neurology (SyNergy)) ; Huisman, Martijn A. (VU University. Department of Sociology) ; Troncoso, Juan (Johns Hopkins University Medical Center. Department of Pathology (Neuropathology)) ; Moreno, Fermin (Cognitive Disorders Unit, Department of Neurology, Hospital Universitario San Sebastian, San Sebastian, Spain) ; Nohr, Ellen A. (University of Southern Denmark. Research Unit of Gynecology and Obstetrics, Department of Clinical Research) ; Sørensen, Thorkild I. A. (Bristol University. MRC Integrative Epidemiology Unit) ; Heutink, Peter (University of Tübingen. Hertie Institute for Clinical Brain Research) ; Sánchez-Juan, Pascual (IDIVAL) ; Posthuma, Danielle (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Christensen, Kaare (Odense University Hospital. Department of Clinical Genetics) ; Ertekin-Taner, Nilüfer (Mayo Clinic Florida. Department of Neurology) ; Scholz, Sonja W. (Johns Hopkins University Medical Center. Department of Neurology) ; Ramirez, Alfredo (Uniklinik Köln (Colònia, Alemanya)) ; Ruiz, Agustín (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Slagboom, Eline (Dutch Society for Research on Ageing, Leiden, The Netherlands) ; van der Flier, Wiesje M. (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ; Holstege, Henne (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Clinical Genetics) ; Universitat Autònoma de Barcelona
The online version of this article (10. 1007/s00401-019-02026-8) contains supplementary material, which is available to authorized users.
2019 - 10.1007/s00401-019-02026-8
Acta Neuropathologica, Vol. 138 (may 2019) , p. 237-250  
6.
4 p, 417.7 KB Correction to : A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity / van der Lee, Sven J. (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Clinical Genetics) ; Conway, Olivia J. (Mayo Clinic Florida. Department of Neuroscience) ; Jansen, Iris (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience) ; Carrasquillo, Minerva M. (Mayo Clinic Florida. Department of Neuroscience) ; Kleineidam, Luca (Uniklinik Köln (Colònia, Alemanya)) ; van den Akker, Erik (Delft University of Technology. Pattern Recognition and Bioinformatics) ; Hernández, Isabel (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; van Eijk, Kristel R. (University Medical Center Utrecht. Department of Neurology, Brain Center Rudolf Magnus) ; Stringa, Najada (Vrije Universiteit Amsterdam) ; Chen, Jason A. (University of California. Interdepartmental Program in Bioinformatics) ; Zettergren, Anna (Neuropsychiatric Epidemiology Unit, Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy, Centre for Ageing and Health (AgeCap) at the University of Gothenburg) ; Andlauer, Till F. M. (German Competence Network Multiple Sclerosis (KKNMS)) ; Diez-Fairen, Monica (Fundacio per la Recerca Biomedica I Social Mutua Terrassa) ; Simon-Sanchez, Javier (University of Tübingen. Hertie Institute for Clinical Brain Research) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Zetterberg, Henrik (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Nygaard, Marianne (University of Southern Denmark. The Danish Aging Research Center, Epidemiology, Biostatistics and Biodemography, Department of Public Health) ; Blauwendraat, Cornelis (National Institute of Neurological Disorders and Stroke. Neurodegenerative Diseases Research Unit) ; Savage, Jeanne E. (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience) ; Mengel-From, Jonas (University of Southern Denmark. Epidemiology, Biostatistics and Biodemography, Department of Public Health) ; Moreno-Grau, Sonia (Institut Català de Neurociènces Aplicades) ; Wagner, Michael (DZNE, German Center for Neurodegenerative Diseases) ; Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ; Keogh, Michael J. (University of Cambridge. Department of Clinical Neurosciences) ; Blennow, Kaj (Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg. Department of Psychiatry and Neurochemistry) ; Skoog, Ingmar (Neuropsychiatric Epidemiology Unit, Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy, Centre for Ageing and Health (AgeCap) at the University of Gothenburg) ; Friese, Manuel A. (Universitätsklinikum Hamburg-Eppendorf. Institut für Neuroimmunologie und Multiple Sklerose (INIMS)) ; Pletnikova, Olga (Johns Hopkins University Medical Center. Department of Pathology (Neuropathology)) ; Zulaica, Miren (Instituto Biodonostia) ; Lage, Carmen (IDIVAL) ; de Rojas, Itziar (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Riedel-Heller, Steffi (University of Leipzig. Institute of Social Medicine, Occupational Health and Public Health (ISAP)) ; Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ; Wei, Wei (University of Cambridge. Department of Clinical Neurosciences) ; Jeune, Bernard (University of Southern Denmark. Epidemiology, Biostatistics and Biodemography, Department of Public Health) ; Orellana, Adelina (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Then Bergh, Florian (University of Leipzig. Department of Neurology) ; Wang, Xue (Mayo Clinic Florida. Department of Neuroscience) ; Hulsman, Marc (Delft University of Technology. Pattern Recognition and Bioinformatics) ; Beker, Nina (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ; Tesi, Niccolo (Delft University of Technology. Pattern Recognition and Bioinformatics) ; Morris, Christopher M. (Newcastle University. Newcastle Brain Tissue Resource, Edwardson Building, Institute of Neuroscience) ; Indakoetxea, Begoña (Cognitive Disorders Unit, Department of Neurology, Hospital Universitario San Sebastian, San Sebastian, Spain) ; Collij, Lyduine E. (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Radiology and Nuclear Medicine, Amsterdam Neuroscience) ; Scherer, Martin (Department of Primary Medical Care, Center for Psychosocial Medicine, University Medical Center, Hamburg-Eppendorf, Germany) ; Morenas-Rodríguez, Estrella (Institut d'Investigació Biomèdica Sant Pau) ; Ironside, James W. (University of Edinburgh. Centre for Clinical Brain Sciences) ; van Berckel, Bart N. M. (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Radiology and Nuclear Medicine, Amsterdam Neuroscience) ; Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ; Wiendl, Heinz (University of Münster. Department of Neurology, Klinik für Neurologie mit Institut für Translationale Neurologie) ; Strickland, Samantha L. (Mayo Clinic Florida. Department of Neuroscience) ; Pastor, Pau (Fundacio per la Recerca Biomedica I Social Mutua Terrassa) ; Rodríguez Rodríguez, Eloy (IDIVAL) ; Boeve, Bradley F. (Mayo Clinic Minnesota. Department of Neurology) ; Petersen, Ronald C. (Mayo Clinic Minnesota. Department of Neurology) ; Ferman, Tanis J. (Mayo Clinic Florida. Department of Psychiatry and Psychology) ; van Gerpen, Jay A. (Mayo Clinic Florida. Department of Neurology) ; Reinders, Marcel J. T. (Delft University of Technology. Delft Bioinformatics Lab) ; Uitti, Ryan J. (Mayo Clinic Florida. Department of Neurology) ; Tárraga, Lluís (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Maier, Wolfgang (DZNE, German Center for Neurodegenerative Diseases) ; Dols-Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ; Kawalia, Amit (Uniklinik Köln (Colònia, Alemanya)) ; Dalmasso, Maria Carolina (Fundación Instituto Leloir (Buenos Aires, Argentina)) ; Boada, Mercè (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Zettl, Uwe K. (University of Rostock. Department of Neurology) ; van Schoor, Natasja M. (Vrije Universiteit Amsterdam) ; Beekman, Marian (Leiden University Medical Center. Molecular Epidemiology) ; Allen, Mariet (Mayo Clinic Florida. Department of Neuroscience) ; Masliah, Eliezer (National Institute on Aging (Estats Units d'Amèrica)) ; de Munain, Adolfo López (Department of Neurology, Hospital Universitario San Sebastian, San Sebastian, Spain) ; Pantelyat, Alexander (Johns Hopkins University Medical Center. Department of Neurology) ; Wszolek, Zbigniew K. (Mayo Clinic Florida. Department of Neurology) ; Ross, Owen A. (Mayo Clinic Florida. Department of Neuroscience) ; Dickson, Dennis W. (Mayo Clinic Florida. Department of Neuroscience) ; Graff-Radford, Neill R. (Mayo Clinic Florida. Department of Neurology) ; Knopman, David (Mayo Clinic Minnesota. Department of Neurology) ; Rademakers, Rosa (Mayo Clinic Florida. Department of Neuroscience) ; Lemstra, Afina W. (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ; Pijnenburg, Yolande A. L. (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ; Scheltens, Philip (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ; Gasser, Thomas (University of Tuebingen. Center of Neurology, Department of Neurodegenerative diseases, Hertie-Institute for Clinical Brain Research) ; Chinnery, Patrick F (University of Cambridge. MRC Mitochondrial Biology Unit) ; Hemmer, Bernhard (Munich Cluster for Systems Neurology (SyNergy)) ; Huisman, Martijn A. (VU University. Department of Sociology) ; Troncoso, Juan (Johns Hopkins University Medical Center. Department of Pathology (Neuropathology)) ; Moreno, Fermin (Cognitive Disorders Unit, Department of Neurology, Hospital Universitario San Sebastian, San Sebastian, Spain) ; Nohr, Ellen A. (University of Southern Denmark. Research Unit of Gynecology and Obstetrics, Department of Clinical Research) ; Sørensen, Thorkild I. A. (Bristol University. MRC Integrative Epidemiology Unit) ; Heutink, Peter (University of Tübingen. Hertie Institute for Clinical Brain Research) ; Sánchez-Juan, Pascual (IDIVAL) ; Posthuma, Danielle (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Christensen, Kaare (Odense University Hospital. Department of Clinical Genetics) ; Ertekin-Taner, Nilüfer (Mayo Clinic Florida. Department of Neurology) ; Scholz, Sonja W. (Johns Hopkins University Medical Center. Department of Neurology) ; Ramirez, Alfredo (Uniklinik Köln (Colònia, Alemanya)) ; Ruiz, Agustín (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Slagboom, Eline (Dutch Society for Research on Ageing, Leiden, The Netherlands) ; van der Flier, Wiesje M. (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ; Holstege, Henne (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Clinical Genetics) ; Universitat Autònoma de Barcelona
Department of Psychiatry, 2020 - 10.1007/s00401-019-02026-8
Acta Neuropathologica, Vol. 139 (january 2020) , p. 959-962  
7.
10 p, 1.0 MB Visual impairment in aging and cognitive decline : experience in a Memory Clinic / Marquié, Marta (Institut Català de Neurociènces Aplicades) ; Castilla-Martí, Miguel (Hospital del Mar (Barcelona, Catalunya)) ; Valero, Sergi (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Martínez, Joan (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ; Sánchez, Domingo (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ; Hernández, Isabel (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Rosende-Roca, Maitée (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ; Vargas, Liliana (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ; Mauleón, Ana (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ; Rodríguez-Gómez, Octavio (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ; Abdelnour, Carla. (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ; Gil Navarro, Silvia (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ; Santos-Santos, Miguel A. (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ; Alegret, Montserrat (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Espinosa, Ana (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Ortega, Gemma (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Pérez-Cordón, Alba (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ; Sanabria, Ángela (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Roberto, Natalia (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ; Moreno-Grau, Sonia. (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ; de Rojas, Itziar (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ; Simó, Rafael (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Ciudin, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Hernández Pascual, Cristina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Orellana, Adelina (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ; Monté-Rubio, Gemma (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ; Benaque, Alba (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ; Ruiz, Agustín (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Tárraga, Luis (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Boada, Mercè (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Universitat Autònoma de Barcelona. Departament de Medicina
Visual impairment is common in people living with dementia and regular ophthalmological exams may improve their quality of life. We evaluated visual function in a cohort of elderly individuals and analyzed its association with their degree of cognitive impairment. [...]
2019 - 10.1038/s41598-019-45055-9
Scientific reports (Nature Publishing Group), Vol. 9 Núm. 1 (january 2019) , p. 8698  
8.
10 p, 92.4 KB Social Representation of Dementia : An Analysis of 5,792 Consecutive Cases Evaluated in a Memory Clinic / Cañabate, Pilar (Institut Català de Neurociènces Aplicades) ; Martínez, Gabriel (University of Antofagasta) ; Rosende-Roca, Maitée (Institut Català de Neurociènces Aplicades) ; Moreno, Mariola (Institut Català de Neurociènces Aplicades) ; Preckler, Silvia (Institut Català de Neurociènces Aplicades) ; Valero Ventura, Sergi (Hospital Universitari Vall d'Hebron) ; Sotolongo Grau, Oscar (Institut Català de Neurociènces Aplicades) ; Hernández, Isabel (Institut Català de Neurociènces Aplicades) ; Alegret, Montserrat (Institut Català de Neurociènces Aplicades) ; Ortega Linares, Gemma (Institut Català de Neurociènces Aplicades) ; Espinosa, Ana (Institut Català de Neurociènces Aplicades) ; Mauleón, Ana (Institut Català de Neurociènces Aplicades) ; Vargas, Liliana (Institut Català de Neurociènces Aplicades) ; Rodríguez, Octavio (Institut Català de Neurociènces Aplicades) ; Abdelnour, Carla (Institut Català de Neurociènces Aplicades) ; Sánchez, Domingo (Institut Català de Neurociènces Aplicades) ; Martín, Elvira (Institut Català de Neurociènces Aplicades) ; Ruiz, Agustín (Institut Català de Neurociènces Aplicades) ; Tárraga, Lluís (Institut Català de Neurociènces Aplicades) ; Boada, Mercè (Institut Català de Neurociènces Aplicades) ; Universitat Autònoma de Barcelona
Background: Different interpretations of cognitive impairment and dementia due to differences in health structures, such as cultural differences could affect the diagnosis and treatment of the condition. [...]
2017 - 10.3233/JAD-161119
Journal of Alzheimer's disease, Vol. 58, Núm. 4 (June 2017) , p. 1099-1108  
9.
13 p, 129.1 KB Cognitive Composites Domain Scores Related to Neuroimaging Biomarkers within Probable-Amnestic Mild Cognitive Impairment-Storage Subtype / Espinosa, Ana (Institut Català de Neurociènces Aplicades) ; Alegret, Montserrat (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ; Pesini, Pedro (Araclon Biotech S.L.) ; Valero Ventura, Sergi (Hospital Universitari Vall d'Hebron) ; Lafuente, Asunción (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ; Buendía, Mar (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ; San José, Itziar (Araclon Biotech S.L.) ; Ibarria, Marta (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ; Tejero, Miguel Ángel (Clínica Corachán) ; Giménez Ruiz, Joan (Clínica Corachán) ; Ruiz, Susana (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ; Hernández, Isabel (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ; Pujadas, Francesc (Hospital Universitari Vall d'Hebron) ; Martínez Lage, Pablo (Fundación CITA) ; Munuera, Josep (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Arbizu, Javier (Clínica Universidad de Navarra) ; Tárraga, Lluís (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ; Hendrix, Suzanne B. (Pentara Corporation) ; Ruiz, Agustín (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ; Becker, James T. (University of Pittsburgh) ; Landau, Susan M. (University of California) ; Sotolongo Grau, Oscar (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ; Sarasa, Manuel (Araclon Biotech S.L.) ; Boada, Mercè (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ; Universitat Autònoma de Barcelona
The probable-amnestic (Pr-a) mild cognitive impairment (MCI)-storage subtype is a phenotype with 8. 5 times more risk of conversion to dementia, mainly Alzheimer's disease (AD), than the possible non-amnestic (Pss-na) MCI. [...]
2017 - 10.3233/JAD-161223
Journal of Alzheimer's disease, Vol. 57, Núm. 2 (March 2017) , p. 447-459  
10.
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  

Articles : 13 registres trobats   1 - 10següent  anar al registre:
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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1 Ruiz, Alejandro A.
5 Ruiz, Alfredo
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3 Ruiz, Amparo
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