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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, 1.2 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  
5.
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  
6.
9 p, 1.2 MB Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset / Billingsley, K.J. (National Institute on Aging (Estats Units d'Amèrica)) ; Barbosa, I.A. (King's College London) ; Bandrés-Ciga, S. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Quinn, J.P. ; Bubb, V.J. ; Deshpande, C. (Clinical Genetics Unit. Guys and St. Thomas' NHS Foundation Trust) ; Botia, J.A. (Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Reynolds, R.H. (Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Zhang, D. (Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Simpson, M.A. (King's College London) ; Blauwendraat, C. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Gan-Or, Z. (Department of Human Genetics. McGill University) ; Gibbs, J.R. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Nalls, M.A. (Data Tecnica International) ; Singleton, A. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Noyce, A. (Preventive Neurology Unit. Wolfson Institute of Preventive Medicine. QMUL) ; Tucci, A. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Middlehurst, B. ; Kia, D. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Tan, M. (Department of Clinical Neuroscience. University College London) ; Houlden, H. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Morris, H.R. (Department of Clinical Neuroscience. University College London) ; Plun-Favreau, H. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Holmans, P. (MRC Centre for Neuropsychiatric Genetics & Genomics) ; Hardy, J. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Trabzuni, D. (Department of Genetics. King Faisal Specialist Hospital and Research Centre) ; Bras, J. (UCL Institute of Neurology (Regne Unit). UK Dementia Research Institute) ; Mok, K. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Kinghorn, K. (Institute of Healthy Ageing. University College London) ; Wood, N. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Lewis, P. (University of Reading) ; Guerreiro, R. (UCL Institute of Neurology (Regne Unit). UK Dementia Research Institute) ; Lovering, R. (University College London) ; R'Bibo, L. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Rizig, M. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Escott-Price, V. (Cardiff University School of Medicine) ; Chelban, V. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Foltynie, T. (Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Williams, N. (Cardiff University School of Medicine) ; Brice, A. (Institut du Cerveau et de la Moelle épinière. ICM. Inserm U 1127. CNRS. UMR 7225. Sorbonne Universités. UPMC University Paris 06. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital) ; Danjou, F. (Institut du Cerveau et de la Moelle épinière. ICM. Inserm U 1127. CNRS. UMR 7225. Sorbonne Universités. UPMC University Paris 06. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital) ; Lesage, S. (Institut du Cerveau et de la Moelle épinière. ICM. Inserm U 1127. CNRS. UMR 7225. Sorbonne Universités. UPMC University Paris 06. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital) ; Martinez, M. (INSERM UMR 1220; and Paul Sabatier University) ; Giri, A. (DZNE. German Center for Neurodegenerative Diseases) ; Schulte, C. (DZNE. German Center for Neurodegenerative Diseases) ; Brockmann, K. (DZNE. German Center for Neurodegenerative Diseases) ; Simón-Sánchez, J. (DZNE. German Center for Neurodegenerative Diseases) ; Heutink, Peter (DZNE. German Center for Neurodegenerative Diseases) ; Rizzu, P. (DZNE. German Center for Neurodegenerative Diseases) ; Sharma, M. (Centre for Genetic Epidemiology. Institute for Clinical Epidemiology and Applied Biometry. University of Tubingen) ; Gasser, T. (DZNE. German Center for Neurodegenerative Diseases) ; Nicolas, A. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Cookson, M. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Faghri, F. (Department of Computer Science. University of Illinois at Urbana-Champaign) ; Hernández, Dena (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Shulman, J. (Jan and Dan Duncan Neurological Research Institute. Texas Children's Hospital) ; Robak, L. (Baylor College of Medicine) ; Lubbe, S. (Ken and Ruth Davee Department of Neurology. Northwestern University Feinberg School of Medicine) ; Finkbeiner, S. (Taube/Koret Center for Neurodegenerative Disease Research) ; Mencacci, N. (Northwestern University Feinberg School of Medicine) ; Lungu, C. (National Institutes of Health Division of Clinical Research. NINDS. National Institutes of Health) ; Scholz, S. (Neurodegenerative Diseases Research Unit. National Institute of Neurological Disorders and Stroke) ; Reed, X. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Leonard, H. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Rouleau, G. (Montreal Neurological Institute. McGill University) ; Krohan, L. (Department of Human Genetics. McGill University) ; van Hilten, J. (Department of Neurology. Leiden University Medical Center) ; Marinus, J. (Department of Neurology. Leiden University Medical Center) ; Adarmes-Gómez, A.D (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Aguilar Barberà, Miquel (Fundació Docència i Recerca Mútua de Terrassa and Movement Disorders Unit. Department of Neurology. University Hospital Mutua de Terrassa. Terrassa) ; Alvarez, I. (Fundació Docència i Recerca Mútua de Terrassa and Movement Disorders Unit. Department of Neurology. University Hospital Mutua de Terrassa. Terrassa) ; Alvarez, V. (Hospital Universitario Central de Asturias) ; Javier Barrero, F. (Hospital Universitario Parque Tecnologico de la Salud) ; Bergareche Yarza, J. (Instituto de Investigación Sanitaria Biodonostia) ; Bernal-Bernal, I. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Blazquez, M. (Hospital Universitario Central de Asturias) ; Bernal, M.B.T. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Boungiorno, M. (Fundació Docència i Recerca Mútua de Terrassa and Movement Disorders Unit. Department of Neurology. University Hospital Mutua de Terrassa. Terrassa) ; Buiza-Rueda, D. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Cámara, A. (Hospital Clínic i Provincial de Barcelona) ; Carcel, M. (Fundació Docència i Recerca Mútua de Terrassa and Movement Disorders Unit. Department of Neurology. University Hospital Mutua de Terrassa. Terrassa) ; Carrillo, F. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Carrión-Claro, M. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Cerdan, D. (Hospital General de Segovia) ; Clarimón, J. (Institut d'Investigació Biomèdica Sant Pau) ; Compta, Y. (Hospital Clínic i Provincial de Barcelona) ; Diez-Fairen, Monica. (Fundació Docència i Recerca Mútua de Terrassa and Movement Disorders Unit. Department of Neurology. University Hospital Mutua de Terrassa. Terrassa) ; Dols-Icardo, O. (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Duarte, J. (Hospital General de Segovia) ; Duran, R.l. (Centro de Investigacion Biomedica. Universidad de Granada) ; Escamilla-Sevilla, F. (Hospital Universitario Virgen de las Nieves. Instituto de Investigación Biosanitaria de Granada) ; Ezquerra, M. (Hospital Clínic i Provincial de Barcelona) ; Fernández, M. (Hospital Clínic i Provincial de Barcelona) ; Fernández-Santiago, R. (Hospital Clínic i Provincial de Barcelona) ; Garcia, C. (Hospital Universitario Central de Asturias) ; García-Ruiz, P. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Gómez-Garre, P. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Heredia, M.G. (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Gonzalez-Aramburu, I. (Hospital Universitario Marqués de Valdecilla-IDIVAL) ; Pagola, A.G. (Instituto de Investigación Sanitaria Biodonostia) ; Hoenicka, J. (Institut de Recerca Sant Joan de Déu) ; Infante, J. (Hospital Universitario Marqués de Valdecilla-IDIVAL) ; Jesús, S. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Jimenez-Escrig, A. (Hospital Universitario Ramón y Cajal (Madrid)) ; Kulisevsky, J. (Institut d'Investigació Biomèdica Sant Pau) ; Labrador-Espinosa, M. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Lopez-Sendon, J. (Hospital Universitario Ramón y Cajal (Madrid)) ; de Munain Arregui, A.L. (Hospital Universitario Ramón y Cajal (Madrid)) ; Macias, D. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Torres, I.M. (Hospital Universitari i Politècnic La Fe de Valencia) ; Marín, J. (Institut d'Investigació Biomèdica Sant Pau) ; Marti, M.J. (Hospital Clínic i Provincial de Barcelona) ; Martínez-Castrillo, J. (Hospital Universitario Ramón y Cajal (Madrid)) ; Méndez-del-Barrio, C. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Menéndez González, M. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Mínguez, A. (Hospital Universitario Virgen de las Nieves. Instituto de Investigación Biosanitaria de Granada) ; Mir, P. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Rezola, E.M. (Instituto de Investigación Sanitaria Biodonostia) ; Muñoz García, José Esteban (Hospital Clínic i Provincial de Barcelona) ; Pagonabarraga, J. (Institut d'Investigació Biomèdica Sant Pau) ; Pastor, Pau (Fundació Docència i Recerca Mútua de Terrassa and Movement Disorders Unit. Department of Neurology. University Hospital Mutua de Terrassa. Terrassa) ; Errazquin, F.P. (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Periñán-Tocino, T. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Ruiz-Martínez, J. (Instituto de Investigación Sanitaria Biodonostia) ; Ruz, C. (Centro de Investigacion Biomedica. Universidad de Granada) ; Rodriguez, A.S. (Hospital Universitario Marqués de Valdecilla-IDIVAL) ; Sierra, M. (Hospital Universitario Marqués de Valdecilla-IDIVAL) ; Suarez-Sanmartin, E. (Clinical Genetics Unit. Guys and St. Thomas' NHS Foundation Trust) ; Tabernero, C. (Hospital Universitario Ramón y Cajal (Madrid)) ; Tartari, J.P. (Fundació Docència i Recerca Mútua de Terrassa and Movement Disorders Unit. Department of Neurology. University Hospital Mutua de Terrassa. Terrassa) ; Tejera-Parrado, C. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Tolosa, E. (Hospital Clínic i Provincial de Barcelona) ; Valldeoriola, F. (Hospital Clínic i Provincial de Barcelona) ; Vargas-González, L. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Vela, L. (Department of Neurology. Hospital Universitario Fundación Alcorcón) ; Vives, F. (Centro de Investigacion Biomedica. Universidad de Granada) ; Zimprich, A. (Department of Neurology. Medical University of Vienna) ; Pihlstrom, L. (Department of Neurology. Oslo University Hospital) ; Taba, P. (Department of Neurology and Neurosurgery. University of Tartu) ; Majamaa, K. (Department of Neurology and Medical Research Center. Oulu University Hospital) ; Siitonen, A. (Institute of Clinical Medicine. Department of Neurology. University of Oulu) ; Okubadejo, N. (University of Lagos) ; Ojo, O. (University of Lagos) ; Ryten, M. (Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Koks, S. (Centre for Comparative Genomics. Murdoch University) ; Universitat Autònoma de Barcelona
Mitochondrial dysfunction has been implicated in the etiology of monogenic Parkinson's disease (PD). Yet the role that mitochondrial processes play in the most common form of the disease; sporadic PD, is yet to be fully established. [...]
2019 - 10.1038/s41531-019-0080-x
NPJ Parkinson's disease, Vol. 5 Núm. 1 (january 2019) , p. 8  
7.
10 p, 1.3 MB Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia / Bonham, L.W. (Neuroradiology Section. Department of Radiology and Biomedical Imaging. University of California. San Francisco) ; Steele, N.Z.R. (Memory and Aging Center. Department of Neurology. University of California. San Francisco) ; Karch, C.M. (Department of Psychiatry. Washington University) ; Broce, I. (Neuroradiology Section. Department of Radiology and Biomedical Imaging. University of California. San Francisco) ; Geier, E.G. (Memory and Aging Center. Department of Neurology. University of California. San Francisco) ; Wen, N.L. (Department of Psychiatry. Washington University) ; Momeni, P. (Texas Tech University Health Science Center. Laboratory of Neurogenetics) ; Hardy, J. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Miller, Z.A. (Memory and Aging Center. Department of Neurology. University of California. San Francisco) ; Gorno-Tempini, M.L. (Memory and Aging Center. Department of Neurology. University of California. San Francisco) ; Hess, C.P. (Neuroradiology Section. Department of Radiology and Biomedical Imaging. University of California. San Francisco) ; Lewis, P. (School of Pharmacy. University of Reading. Whiteknights) ; Miller, B.L. (Memory and Aging Center. Department of Neurology. University of California. San Francisco) ; Seeley, W.W. (Memory and Aging Center. Department of Neurology. University of California. San Francisco) ; Manzoni, C. (School of Pharmacy. University of Reading. Whiteknights) ; Desikan, R.S. (Neuroradiology Section. Department of Radiology and Biomedical Imaging. University of California. San Francisco) ; Baranzini, S.E. (Department of Neurology. University of California. San Francisco) ; Ferrari, R. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Yokoyama, J.S. (Memory and Aging Center. Department of Neurology. University of California. San Francisco) ; Hernandez, D.G. (UCL Institute of Neurology (Regne Unit)) ; Nalls, M.A. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Rohrer, J.D. (Dementia Research Centre. Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Ramasamy, A. (The Jenner Institute. University of Oxford) ; Kwok, J.B.J. (School of Medical Sciences. University of New South Wales) ; Dobson-Stone, C. (School of Medical Sciences. University of New South Wales) ; Schofield, P.R. (School of Medical Sciences. University of New South Wales) ; Halliday, G.M. (School of Medical Sciences. University of New South Wales) ; Hodges, J.R. (School of Medical Sciences. University of New South Wales) ; Piguet, O. (School of Medical Sciences. University of New South Wales) ; Bartley, L. (School of Medical Sciences. University of New South Wales) ; Thompson, E. (Department of Paediatrics. University of Adelaide) ; Haan, E. (Department of Paediatrics. University of Adelaide) ; Hernández, Isabel (Institut Català de Neurociènces Aplicades) ; Ruiz, A. (Institut Català de Neurociènces Aplicades) ; Boada, M. (Institut Català de Neurociènces Aplicades) ; Borroni, B. (Neurology Clinic. University of Brescia) ; Padovani, A. (Neurology Clinic. University of Brescia) ; Cruchaga, C. (Hope Center. Washington University School of Medicine) ; Cairns, N.J. (Department of Pathology and Immunology. Washington University) ; Benussi, L. (Molecular Markers Laboratory. IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Binetti, G. (MAC Memory Clinic. IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Ghidoni, R. (Molecular Markers Laboratory. IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Forloni, G. (Biology of Neurodegenerative Disorders. IRCCS Istituto di Ricerche Farmacologiche "Mario Negri") ; Albani, Diego (Biology of Neurodegenerative Disorders. IRCCS Istituto di Ricerche Farmacologiche "Mario Negri") ; Galimberti, D. (Fondazione Cà Granda. IRCCS Ospedale Maggiore Policlinico) ; Fenoglio, C. (Fondazione Cà Granda. IRCCS Ospedale Maggiore Policlinico) ; Serpente, M. (Fondazione Cà Granda. IRCCS Ospedale Maggiore Policlinico) ; Scarpini, E. (Fondazione Cà Granda. IRCCS Ospedale Maggiore Policlinico) ; Clarimón, J. (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Lleó, Alberto (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Blesa, R. (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Landqvist Waldö, M. (Unit of Geriatric Psychiatry. Department of Clinical Sciences. Lund University) ; Nilsson, K. (Unit of Geriatric Psychiatry. Department of Clinical Sciences. Lund University) ; Nilsson, C. (Clinical Memory Research Unit. Department of Clinical Sciences. Lund University) ; Mackenzie, I.R.A. (Department of Pathology and Laboratory Medicine. University of British Columbia) ; Hsiung, G.Y.R. (Division of Neurology. University of British Columbia) ; Mann, D.M.A. (Institute of Brain. Behaviour and Mental Health. University of Manchester. Salford Royal Hospital) ; Grafman, J. (Department of Psychology. Weinberg College of Arts and Sciences. Northwestern University) ; Morris, C.M. (Institute of Neuroscience. Newcastle University Medical School) ; Attems, J. (Institute of Neuroscience and Institute for Ageing. Campus for Ageing and Vitality. Newcastle University) ; Griffiths, T.D. (Institute of Neuroscience. Newcastle University Medical School) ; McKeith, I.G. (Institute of Neuroscience and Institute for Ageing. Campus for Ageing and Vitality. Newcastle University) ; Thomas, A.J. (Institute of Neuroscience and Institute for Ageing. Campus for Ageing and Vitality. Newcastle University) ; Pietrini, P. (IMT School for Advanced Studies. Lucca) ; Huey, E.D. (Taub Institute. Departments of Psychiatry and Neurology. Columbia University) ; Wassermann, E.M. (Behavioral Neurology Unit. National Insititute of Neurological Disorders and Stroke. National Insititutes of Health) ; Baborie, A. (Department of Laboratory Medicine & Pathology. University of Alberta Edmonton) ; Jaros, E. (Institute of Neuroscience and Institute for Ageing. Campus for Ageing and Vitality. Newcastle University) ; Tierney, M.C. (Behavioral Neurology Unit. National Insititute of Neurological Disorders and Stroke. National Insititutes of Health) ; Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Razquin, C. (Neurogenetics Laboratory. Division of Neurosciences. Center for Applied Medical Research. Universidad de Navarra) ; Ortega-Cubero, S. (Neurogenetics Laboratory. Division of Neurosciences. Center for Applied Medical Research. Universidad de Navarra) ; Alonso, E. (Department of Neurology. Clínica Universidad de Navarra. University of Navarra School of Medicine) ; Perneczky, R. (Department of Psychiatry and Psychotherapy. Technische Universität München) ; Diehl-Schmid, J. (Department of Psychiatry and Psychotherapy. Technische Universität München) ; Alexopoulos, P. (Department of Psychiatry and Psychotherapy. Technische Universität München) ; Kurz, A. (Department of Psychiatry and Psychotherapy. Technische Universität München) ; Rainero, I. (Neurology I. Department of Neuroscience. University of Torino. Italy. A.O. Città della Salute e della Scienza di Torino) ; Rubino, E. (Neurology I. Department of Neuroscience. University of Torino. Italy. A.O. Città della Salute e della Scienza di Torino) ; Pinessi, L. (Neurology I. Department of Neuroscience. University of Torino. Italy. A.O. Città della Salute e della Scienza di Torino) ; Rogaeva, E. (Tanz Centre for Research in Neurodegenerative Diseases. University of Toronto) ; St George-Hyslop, P. (Cambridge Institute for Medical Research. and the Department of Clinical Neurosciences. University of Cambridge) ; Rossi, G. (Division of Neurology and Neuropathology. Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Tagliavini, F. (Division of Neurology and Neuropathology. Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Giaccone, G. (Division of Neurology and Neuropathology. Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Rowe, J.B. (Behavioural and Clinical Neuroscience Institute) ; Schlachetzki, J.C.M. (University of California San Diego. Department of Cellular & Molecular Medicine) ; Uphill, J. (UCL Institute of Neurology (Regne Unit). Department of Neurodegenerative Disease) ; Collinge, J. (UCL Institute of Neurology (Regne Unit). Department of Neurodegenerative Disease) ; Mead, S. (UCL Institute of Neurology (Regne Unit). Department of Neurodegenerative Disease) ; Danek, A. (Neurologische Klinik und Poliklinik. Ludwig-Maximilians-Universität) ; Van Deerlin, V.M. (Department of Pathology and Laboratory Medicine. University of Pennsylvania Perelman School of Medicine) ; Grossman, M. (Department of Neurology and Penn Frontotemporal Degeneration Center. University of Pennsylvania Perelman School of Medicine) ; Trojanowski, J.Q. (Laboratory of Neurogenetics. Institute Born-Bunge. University of Antwerp) ; van der Zee, J. (Laboratory of Neurogenetics. Institute Born-Bunge. University of Antwerp) ; Cruts, M. (Laboratory of Neurogenetics. Institute Born-Bunge. University of Antwerp) ; Van Broeckhoven, C. (Laboratory of Neurogenetics. Institute Born-Bunge. University of Antwerp) ; Cappa, S.F. (Neurorehabilitation Unit. Department of Clinical Neuroscience. Vita-Salute University and San Raffaele Scientific Institute) ; Leber, I. (CNRS UMR 7225. F-75013) ; Hannequin, D. (Service de Neurologie. Inserm U1079. CNR-MAJ. Rouen University Hospital) ; Golfier, V. (Service de Neurologie. CH Saint Brieuc) ; Vercelletto, M. (Service de neurologie. CHU de Nantes) ; Brice, A. (CNRS UMR 7225. F-75013) ; Nacmias, B. (Department of Neurosciences. Psychology. Drug Research and Child Health (NEUROFARBA) University of Florence) ; Sorbi, Sandro (Department of Neurosciences. Psychology. Drug Research and Child Health (NEUROFARBA) University of Florence) ; Bagnoli, S. (Department of Neurosciences. Psychology. Drug Research and Child Health (NEUROFARBA) University of Florence) ; Piaceri, I. (Department of Neurosciences. Psychology. Drug Research and Child Health (NEUROFARBA) University of Florence) ; Nielsen, J.E. (Department of Cellular and Molecular Medicine. Section of Neurogenetics. The Panum Institute. University of Copenhagen) ; Hjermind, L.E. (Department of Cellular and Molecular Medicine. Section of Neurogenetics. The Panum Institute. University of Copenhagen) ; Riemenschneider, M. (Laboratory for Neurogenetics. Saarland University) ; Mayhaus, M. (Laboratory for Neurogenetics. Saarland University) ; Ibach, B. (Department of Psychiatry. Psychotherapy and Psychosomatics) ; Gasparoni, G. (Laboratory for Neurogenetics. Saarland University) ; Pichler, S. (Laboratory for Neurogenetics. Saarland University) ; Gu, W. (Luxembourg Centre For Systems Biomedicine (LCSB). University of Luxembourg) ; Rossor, M.N. (Dementia Research Centre. Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Fox, N.C. (Dementia Research Centre. Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Warren, J.D. (Dementia Research Centre. Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Spillantini, M.G. (Department of Clinical Neurosciences. John Van Geest Brain Repair Centre. Forvie Site. University of Cambridge) ; Morris, H.R. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Rizzu, P. (Tübingen Site. German Center for Neurodegenerative Diseases) ; Heutink, P. (Tübingen Site. German Center for Neurodegenerative Diseases) ; Snowden, J.S. (Institute of Brain. Behaviour and Mental Health. University of Manchester. Salford Royal Hospital) ; Rollinson, S. (Institute of Brain. Behaviour and Mental Health. University of Manchester. Salford Royal Hospital) ; Richardson, A. (Salford Royal Foundation Trust. Faculty of Medical and Human Sciences. University of Manchester) ; Gerhard, A. (Institute of Brain. Behaviour and Mental Health. University of Manchester. Salford Royal Hospital) ; Bruni, A.C. (Regional Neurogenetic Centre. ASPCZ) ; Maletta, R. (Regional Neurogenetic Centre. ASPCZ) ; Frangipane, F. (Regional Neurogenetic Centre. ASPCZ) ; Cupidi, C. (Regional Neurogenetic Centre. ASPCZ) ; Bernardi, L. (Regional Neurogenetic Centre. ASPCZ) ; Anfossi, M. (Regional Neurogenetic Centre. ASPCZ) ; Gallo, M. (Regional Neurogenetic Centre. ASPCZ) ; Conidi, M.E. (Regional Neurogenetic Centre. ASPCZ) ; Smirne, N. (Regional Neurogenetic Centre. ASPCZ) ; Rademakers, R. (Department of Neuroscience. Mayo Clinic Jacksonville) ; Baker, M. (Department of Neuroscience. Mayo Clinic Jacksonville) ; Dickson, Dennis W. (Department of Neuroscience. Mayo Clinic Jacksonville) ; Graff-Radford, N.R. (Department of Neuroscience. Mayo Clinic Jacksonville) ; Petersen, R.C. (Department of Neurology. Mayo Clinic Rochester) ; Knopman, D. (Department of Neurology. Mayo Clinic Rochester) ; Josephs, K.A. (Department of Neurology. Mayo Clinic Rochester) ; Boeve, B.F. (Department of Neurology. Mayo Clinic Rochester) ; Parisi, J.E. (Department of Pathology. Mayo Clinic Rochester) ; Karydas, A.M. (Memory and Aging Center. Department of Neurology. University of California. San Francisco) ; Rosen, H. (Memory and Aging Center. Department of Neurology. University of California. San Francisco) ; van Swieten, J.C. (Department of Medical Genetics. VU university Medical Centre) ; Dopper, E.G.P. (Department of Medical Genetics. VU university Medical Centre) ; Seelaar, H. (Department of Medical Genetics. VU university Medical Centre) ; Pijnenburg, Y.A.L. (VU University Medical Centre. Department of Neurology) ; Scheltens, Philip (VU University Medical Centre. Department of Neurology) ; Logroscino, G. (Department of Basic Medical Sciences. Neurosciences and Sense Organs. "Aldo Moro" University of Bari) ; Capozzo, R. (Department of Basic Medical Sciences. Neurosciences and Sense Organs. "Aldo Moro" University of Bari) ; Novelli, V. (Medical Genetics Unit. Fondazione Policlinico Universitario A. Gemelli) ; Puca, A.A. (Department of Medicine and Surgery. University of Salerno) ; Franceschi, M. (Neurology Department. IRCCS Multimedica) ; Postiglione, A. (Department of Clinical Medicine and Surgery. University of Naples Federico II) ; Milan, G. (Geriatric Center Frullone ASL Napoli 1 Centro) ; Sorrentino, P. (Geriatric Center Frullone ASL Napoli 1 Centro) ; Kristiansen, M. (UCL Genomics. Institute of Child Health (ICH). UCL) ; Chiang, H.H. (Dept of Geriatric Medicine. Genetics Unit. Karolinska University Hospital) ; Graff, C. (Dept of Geriatric Medicine. Genetics Unit. Karolinska University Hospital) ; Pasquier, F. (Université des Sciences et Technologies de Lille. Inserm 1171. DISTALZ. CHU 59000) ; Rollin, A. (Université des Sciences et Technologies de Lille. Inserm 1171. DISTALZ. CHU 59000) ; Deramecourt, V. (Université des Sciences et Technologies de Lille. Inserm 1171. DISTALZ. CHU 59000) ; Lebouvier, T. (Université des Sciences et Technologies de Lille. Inserm 1171. DISTALZ. CHU 59000) ; Kapogiannis, D. (National Institute on Aging (NIA/NIH)) ; Ferrucci, L. (National Institute on Aging (Baltimore, Estats Units d'Amèrica)) ; Pickering-Brown, S. (Institute of Brain. Behaviour and Mental Health. University of Manchester. Salford Royal Hospital) ; Singleton, A.B. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Universitat Autònoma de Barcelona
The semantic variant of primary progressive aphasia (svPPA) is a clinical syndrome characterized by neurodegeneration and progressive loss of semantic knowledge. Unlike many other forms of frontotemporal lobar degeneration (FTLD), svPPA has a highly consistent underlying pathology composed of TDP-43 (a regulator of RNA and DNA transcription metabolism). [...]
2019 - 10.1038/s41598-019-46415-1
Scientific reports (Nature Publishing Group), Vol. 9 Núm. 1 (january 2019) , p. 10854  
8.
14 p, 2.8 MB Moving beyond neurons : the role of cell type-specific gene regulation in Parkinson's disease heritability / Reynolds, R.H. (Department of Neurodegenerative Disease. University College London (UCL) Institute of Neurology) ; Botía, J. (Departamento de Ingeniería de la Información y las Comunicaciones. Universidad de Murcia) ; Nalls, M.A. (Data Tecnica International) ; Noyce, A.J. (Preventive Neurology Unit. Wolfson Institute of Preventive Medicine. QMUL) ; Nicolas, A. (National Institute on Aging (Estats Units d'Amèrica)) ; Cookson, M.R. (National Institute on Aging (Estats Units d'Amèrica)) ; Bandres-Ciga, S. (National Institute on Aging (Estats Units d'Amèrica)) ; Gibbs, J.R. (National Institute on Aging (Estats Units d'Amèrica)) ; Hernandez, D.G. (National Institute on Aging (Estats Units d'Amèrica)) ; Singleton, A.B. (National Institute on Aging (Estats Units d'Amèrica)) ; Reed, X. (National Institute on Aging (Estats Units d'Amèrica)) ; Leonard, H. (National Institute on Aging (Estats Units d'Amèrica)) ; Blauwendraat, C. (National Institute of Neurological Disorders and Stroke) ; Faghri, F. (Department of Computer Science. University of Illinois at Urbana-Champaign) ; Bras, J. (Department of Molecular Neuroscience. UCL) ; Guerreiro, R. (Department of Molecular Neuroscience. UCL) ; Tucci, A. (Department of Molecular Neuroscience. UCL) ; Kia, D.A. (Department of Molecular Neuroscience. UCL) ; Houlden, H. (Department of Molecular Neuroscience. UCL) ; Plun-Favreau, H. (Department of Molecular Neuroscience. UCL) ; Mok, K.Y. (Department of Molecular Neuroscience. UCL) ; Wood, N.W. (Department of Molecular Neuroscience. UCL) ; Lovering, R. (Department of Molecular Neuroscience. UCL) ; R'Bibo, L. (Department of Molecular Neuroscience. UCL) ; Rizig, M. (Department of Molecular Neuroscience. UCL) ; Chelban, V. (Department of Molecular Neuroscience. UCL) ; Trabzuni, D. (Department of Genetics. King Faisal Specialist Hospital and Research Centre) ; Tan, M. (Department of Clinical Neuroscience. University College London) ; Morris, H.R. (Department of Clinical Neuroscience. University College London) ; Middlehurst, B. (Institute of Translational Medicine. University of Liverpool) ; Quinn, J. (Institute of Translational Medicine. University of Liverpool) ; Billingsley, K. (Institute of Translational Medicine. University of Liverpool) ; Holmans, P. (MRC Centre for Neuropsychiatric Genetics & Genomics) ; Kinghorn, K.J. (Institute of Healthy Ageing. University College London) ; Lewis, P. (University of Reading) ; Escott-Price, V. (MRC Centre for Neuropsychiatric Genetics and Genomics. Cardiff University School of Medicine) ; Williams, N. (MRC Centre for Neuropsychiatric Genetics and Genomics. Cardiff University School of Medicine) ; Foltynie, T. (UCL Institute of Neurology (Regne Unit)) ; Brice, A. (Institut du Cerveau et de la Moelle épinière. ICM. Inserm U 1127. CNRS. UMR 7225. Sorbonne Universités. UPMC University Paris 06. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital) ; Danjou, F. (Institut du Cerveau et de la Moelle épinière. ICM. Inserm U 1127. CNRS. UMR 7225. Sorbonne Universités. UPMC University Paris 06. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital) ; Lesage, S. (Institut du Cerveau et de la Moelle épinière. ICM. Inserm U 1127. CNRS. UMR 7225. Sorbonne Universités. UPMC University Paris 06. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital) ; Corvol, J.C. (Institut du Cerveau et de la Moelle épinière. ICM. Inserm U 1127. CNRS. UMR 7225. Sorbonne Universités. UPMC University Paris 06. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital) ; Martinez, M. (Paul Sabatier University) ; Giri, A. (DZNE. German Center for Neurodegenerative Diseases) ; Schulte, C. (DZNE. German Center for Neurodegenerative Diseases) ; Brockmann, K. (DZNE. German Center for Neurodegenerative Diseases) ; Simón-Sánchez, J. (DZNE. German Center for Neurodegenerative Diseases) ; Heutink, Peter (DZNE. German Center for Neurodegenerative Diseases) ; Gasser, T. (DZNE. German Center for Neurodegenerative Diseases) ; Rizzu, P. (DZNE. German Center for Neurodegenerative Diseases) ; Sharma, M. (Centre for Genetic Epidemiology. Institute for Clinical Epidemiology and Applied Biometry. University of Tubingen) ; Shulman, J.M. (Jan and Dan Duncan Neurological Research Institute. Texas Children's Hospital) ; Robak, L. (Departments of Neurology. Neuroscience. and Molecular & Human Genetics. Baylor College of Medicine) ; Lubbe, S. (Ken and Ruth Davee Department of Neurology. Northwestern University Feinberg School of Medicine) ; Mencacci, N.E. (Northwestern University Feinberg School of Medicine) ; Finkbeiner, S. (Gladstone Institute of Neurological Disease. Taube/Koret Center for Neurodegenerative Disease Research) ; Lungu, C. (National Institutes of Health Division of Clinical Research. NINDS. National Institutes of Health) ; Scholz, S.W. (Neurodegenerative Diseases Research Unit. National Institute of Neurological Disorders and Stroke) ; Gan-Or, Z. (Montreal Neurological Institute and Hospital. Departments of Neurology and Neurosurgery. Department of Human Genetics. McGill University) ; Rouleau, G.A. (Montreal Neurological Institute and Hospital. Departments of Neurology and Neurosurgery. Department of Human Genetics. McGill University) ; Krohan, L. (Department of Human Genetics. McGill University) ; van Hilten, J.J. (Department of Neurology. Leiden University Medical Center) ; Marinus, J. (Department of Neurology. Leiden University Medical Center) ; Adarmes-Gómez, A.D (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Bernal-Bernal, I. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Bonilla-Toribio, M. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Buiza-Rueda, D. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Carrillo, F. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Carrión-Claro, M. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Mir, P. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Gómez-Garre, P. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Jesús, S. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Labrador-Espinosa, M.A. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Macias, D. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Vargas-González, L. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Méndez-del-Barrio, C. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Periñán-Tocino, T. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Tejera-Parrado, C. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Diez-Fairen, Monica. (Fundació Docència i Recerca Mútua de Terrassa and Movement Disorders Unit. Department of Neurology. University Hospital Mutua de Terrassa. Terrassa) ; Aguilar Barberà, Miquel (Fundació Docència i Recerca Mútua de Terrassa and Movement Disorders Unit. Department of Neurology. University Hospital Mutua de Terrassa. Terrassa) ; Alvarez, I. (Fundació Docència i Recerca Mútua de Terrassa and Movement Disorders Unit. Department of Neurology. University Hospital Mutua de Terrassa. Terrassa) ; Boungiorno, M.T. (Fundació Docència i Recerca Mútua de Terrassa and Movement Disorders Unit. Department of Neurology. University Hospital Mutua de Terrassa. Terrassa) ; Carcel, M. (Fundació Docència i Recerca Mútua de Terrassa and Movement Disorders Unit. Department of Neurology. University Hospital Mutua de Terrassa. Terrassa) ; Pastor, Pau (Fundació Docència i Recerca Mútua de Terrassa and Movement Disorders Unit. Department of Neurology. University Hospital Mutua de Terrassa. Terrassa) ; Tartari, J.P. (Fundació Docència i Recerca Mútua de Terrassa and Movement Disorders Unit. Department of Neurology. University Hospital Mutua de Terrassa. Terrassa) ; Alvarez, V. (Hospital Universitario Central de Asturias) ; González, M.M. (Hospital Universitario Central de Asturias) ; Blazquez, M. (Hospital Universitario Central de Asturias) ; Garcia, C. (Hospital Universitario Central de Asturias) ; Suarez-Sanmartin, E. (Hospital Universitario Central de Asturias) ; Barrero, F.J. (Hospital Universitario Parque Tecnologico de la Salud) ; Rezola, E.M. (Instituto de Investigación Sanitaria Biodonostia) ; Yarza, J.A.B. (Instituto de Investigación Sanitaria Biodonostia) ; Pagola, A.G. (Instituto de Investigación Sanitaria Biodonostia) ; de Munain Arregui, A.L. (Instituto de Investigación Sanitaria Biodonostia) ; Ruiz-Martínez, J. (Instituto de Investigación Sanitaria Biodonostia) ; Cerdan, D. (Hospital General de Segovia) ; Duarte, J. (Hospital General de Segovia) ; Clarimón, J. (Institut d'Investigació Biomèdica Sant Pau) ; Dols-Icardo, O. (Institut d'Investigació Biomèdica Sant Pau) ; Infante, J. (University of Cantabria) ; Marín, J. (Institut d'Investigació Biomèdica Sant Pau) ; Kulisevsky, J. (Institut d'Investigació Biomèdica Sant Pau) ; Pagonabarraga, J. (Institut d'Investigació Biomèdica Sant Pau) ; Gonzalez-Aramburu, I. (Hospital Universitario Marqués de Valdecilla-IDIVAL) ; Rodriguez, A.S. (Hospital Universitario Marqués de Valdecilla-IDIVAL) ; Sierra, M. (Hospital Universitario Marqués de Valdecilla-IDIVAL) ; Duran, R. (Centro de Investigacion Biomedica. Universidad de Granada) ; Ruz, C. (Centro de Investigacion Biomedica. Universidad de Granada) ; Vives, F. (Centro de Investigacion Biomedica. Universidad de Granada) ; Escamilla-Sevilla, F. (Hospital Universitario Virgen de las Nieves. Instituto de Investigación Biosanitaria de Granada) ; Mínguez, A. (Hospital Universitario Virgen de las Nieves. Instituto de Investigación Biosanitaria de Granada) ; Cámara, A. (Hospital Clínic i Provincial de Barcelona) ; Compta, Y. (Hospital Clínic i Provincial de Barcelona) ; Ezquerra, M. (Hospital Clínic i Provincial de Barcelona) ; Marti, M.J. (Hospital Clínic i Provincial de Barcelona) ; Fernández, M. (Hospital Clínic i Provincial de Barcelona) ; Muñoz García, José Esteban (Hospital Clínic i Provincial de Barcelona) ; Fernández-Santiago, R. (Hospital Clínic i Provincial de Barcelona) ; Tolosa, E. (Hospital Clínic i Provincial de Barcelona) ; Valldeoriola, F. (Hospital Clínic i Provincial de Barcelona) ; García-Ruiz, P. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Heredia, M.J.G. (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Errazquin, F.P. (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Hoenicka, J. (Institut de Recerca Sant Joan de Déu) ; Jimenez-Escrig, A. (Hospital Universitario Ramón y Cajal (Madrid)) ; Martínez-Castrillo, J.C. (Hospital Universitario Ramón y Cajal (Madrid)) ; Lopez-Sendon, J.L. (Hospital Universitario Ramón y Cajal (Madrid)) ; Torres, I.M. (Hospital Universitari i Politècnic La Fe de Valencia) ; Tabernero, C. (Hospital General de Segovia) ; Vela, L. (Department of Neurology. Hospital Universitario Fundación Alcorcón) ; Zimprich, A. (Department of Neurology. Medical University of Vienna) ; Pihlstrom, L. (Department of Neurology. Oslo University Hospital) ; Koks, S. (Perron Institute for Neurological and Translational Science) ; Taba, P. (Departments of Neurology and Neurosurgery. University of Tartu) ; Majamaa, K. (Department of Neurology and Medical Research Center. Oulu University Hospital) ; Siitonen, A. (Department of Neurology and Medical Research Center. Oulu University Hospital) ; Okubadejo, N.U. (University of Lagos) ; Ojo, O.O. (University of Lagos) ; Pitcher, T. (Department of Medicine. University of Otago) ; Anderson, T. (Department of Medicine. University of Otago) ; Bentley, S. (Griffith Institute for Drug Discovery. Griffith University) ; Fowdar, J. (Griffith Institute for Drug Discovery. Griffith University) ; Mellick, G. (Griffith Institute for Drug Discovery. Griffith University) ; Dalrymple-Alford, J. (Department Psychology. University of Canterbury. New Zealand Brain Research Institute) ; Henders, A.K. (Institute for Molecular Bioscience. University of Queensland) ; Kassam, I. (Institute for Molecular Bioscience. University of Queensland) ; Montgomery, G. (Institute for Molecular Bioscience. University of Queensland) ; Sidorenko, J. (Institute for Molecular Bioscience. University of Queensland) ; Zhang, F. (Institute for Molecular Bioscience. University of Queensland) ; Xue, A. (Institute for Molecular Bioscience. University of Queensland) ; Vallerga, C.L. (Institute for Molecular Bioscience. University of Queensland) ; Wallace, L. (Institute for Molecular Bioscience. University of Queensland) ; Wray, N.R. (Queensland Brain Institute. University of Queensland) ; Yang, J. (Queensland Brain Institute. University of Queensland) ; Visscher, P.M. (Queensland Brain Institute. University of Queensland) ; Gratten, J. (Queensland Brain Institute. University of Queensland) ; Silburn, P.A. (Queensland Brain Institute. University of Queensland) ; Halliday, G. (University of Sydney. Brain and Mind Centre) ; Hickie, IB (University of Sydney. Brain and Mind Centre) ; Kwok, J. (University of Sydney. Brain and Mind Centre) ; Lewis, S. (University of Sydney. Brain and Mind Centre) ; Kennedy, M. (Department of Pathology. University of Otago) ; Pearson, J. (Department of Pathology. University of Otago) ; Hardy, J. (UK Dementia Research Institute at University College London (UCL)) ; Gagliano Taliun, S.A. (Center for Statistical Genetics and Department of Biostatistics. University of Michigan) ; Ryten, M. (Department of Neurodegenerative Disease. University College London (UCL) Institute of Neurology) ; Universitat Autònoma de Barcelona
Parkinson's disease (PD), with its characteristic loss of nigrostriatal dopaminergic neurons and deposition of α-synuclein in neurons, is often considered a neuronal disorder. However, in recent years substantial evidence has emerged to implicate glial cell types, such as astrocytes and microglia. [...]
2019 - 10.1038/s41531-019-0076-6
NPJ Parkinson's disease, Vol. 5 Núm. 1 (january 2019) , p. 6  
9.
13 p, 1.2 MB Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease / De Roeck, Arne (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Van den Bossche, Tobi (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; van der Zee, Julie (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Verheijen, Jan (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; De Coster, Wouter (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Van Dongen, Jasper (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Dillen, Lubina (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Baradaran-Heravi, Yalda (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Heeman, Bavo (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Sanchez-Valle, Raquel (Hospital Clínic i Provincial de Barcelona) ; Lladó, Albert (Hospital Clínic i Provincial de Barcelona) ; Nacmias, Benedetta (University of Florence) ; Sorbi, Sandro (University of Florence) ; Gelpi, Ellen (Hospital Clínic i Provincial de Barcelona) ; Grau-Rivera, Oriol (Hospital Clínic i Provincial de Barcelona) ; Gómez-Tortosa, Estrella (Hospital Universitario Fundación Jiménez Díaz) ; Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Ortega-Cubero, Sara (Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas) ; Pastor, Maria A. (Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas) ; Graff, Caroline (Karolinska Institutet (Estocolm, Suècia). Center for Alzheimer Research) ; Thonberg, Håkan (Karolinska Institutet (Estocolm, Suècia). Center for Alzheimer Research) ; Benussi, Luisa (Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy) ; Ghidoni, Roberta (Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy) ; Binetti, Giuliano (Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy) ; de Mendonça, Alexandre (University of Lisbon, Portugal) ; Martins, Madalena (University of Lisbon, Portugal) ; Borroni, Barbara (Centre for Neurodegenerative Disorders, University of Brescia, Italy.) ; Padovani, Alessandro (Centre for Neurodegenerative Disorders, University of Brescia, Brescia, Italy) ; Almeida, Maria Rosário (Center for Neuroscience and Cell Biology, University of Coimbra, Portugal) ; Santana, Isabel (Center for Neuroscience and Cell Biology, University of Coimbra, Portugal) ; Diehl-Schmid, Janine (Technische Universität München, Germany) ; Alexopoulos, Panagiotis (Technische Universität München, Germany) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Lleó, Alberto (Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas) ; Fortea, Juan (Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas) ; Tsolaki, Magda (Aristotle University of Thessaloniki) ; Koutroumani, Maria (Aristotle University of Thessaloniki) ; Matej, Radoslav (Charles University, Prague, Czech Republic) ; Rohan, Zdenek (Charles University, Prague, Czech Republic) ; De Deyn, Peter (Institute Born-Bunge, University of Antwerp, Belgium) ; Engelborghs, Sebastiaan (Institute Born-Bunge, University of Antwerp, Belgium) ; Cras, Patrick (Institute Born-Bunge, University of Antwerp, Belgium) ; Van Broeckhoven, Christine (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Sleegers, Kristel (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Universitat Autònoma de Barcelona
Premature termination codon (PTC) mutations in the ATP-Binding Cassette, Sub-Family A, Member 7 gene (ABCA7) have recently been identified as intermediate-to-high penetrant risk factor for late-onset Alzheimer's disease (LOAD). [...]
2017 - 10.1007/s00401-017-1714-x
Acta Neuropathologica, Vol. 134 (april 2017) , p. 475-487  
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 : 12 registres trobats   1 - 10següent  anar al registre:
Vegeu també: autors amb noms similars
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