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13 p, 722.8 KB |
A C6orf10 / LOC101929163 locus is associated with age of onset in C9orf72 carriers
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Zhang, Ming (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Ferrari, Raffaele (Department of Molecular Neuroscience, Institute of Neurology, UCL, London, UK) ;
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 (Laboratorio de Biología Molecular, Departamento de Neuropatología, Instituto de Investigaciones Neurológicas Dr. Raúl Carrea (FLENI), Buenos Aires, Argentina) ;
Wolf, Uri (Baycrest Health Science, Department of Psychiatry, University of Toronto, Toronto, ON, Canada) ;
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 (Department of Molecular Neuroscience, Institute of Neurology, UCL, London, UK) ;
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 (Alzheimer Center, VU University Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands) ;
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 (Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK) ;
Mead, Simon (MRC Prion Unit at UCL, Institute of Prion Diseases, London, UK) ;
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 (Brain and Mind Centre, Sydney Medical School, The University of Sydney, Sydney, Australia) ;
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) ;
Clarimon, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Lleó, Alberto (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Ruiz, Agustin (Research Center and Memory Clinic, Fundació ACE, Institut Català de Neurociències Aplicades-Universitat Internacional de Catalunya, Barcelona, Spain) ;
Hernández, Isabel (Research Center and Memory Clinic, Fundació ACE, Institut Català de Neurociències Aplicades-Universitat Internacional de Catalunya, Barcelona, Spain) ;
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, Neuroepidemiology and Ageing Research Unit, London, UK) ;
Diehl-Schmid, Janine (Department of Psychiatry and Psychotherapy, Technische Universität München, Munich, Germany) ;
Grafman, Jordan (Department of Psychology, Weinberg College of Arts and Sciences Northwestern University Chicago, IL, USA) ;
Huey, Edward D (The Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Medical Center, New York, NY, USA) ;
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 (Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA) ;
Hernandez, Dena (Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA) ;
Singleton, Andrew (Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA) ;
Momeni, Parastoo (Rona Holdings, Silicon Valley, CA, USA) ;
Zeng, Zhen (Merck & Co., Inc, Kenilworth, NJ, USA) ;
Hardy, John (Department of Molecular Neuroscience, Institute of Neurology, UCL, London, UK) ;
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
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13 p, 1.2 MB |
Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease
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De Roeck, Arne (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
Van den Bossche, Tobi (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
van der Zee, Julie (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
Verheijen, Jan (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
De Coster, Wouter (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
Van Dongen, Jasper (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
Dillen, Lubina (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
Baradaran-Heravi, Yalda (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
Heeman, Bavo (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
Sanchez-Valle, Raquel (Hospital Clínic i Provincial de Barcelona) ;
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 (Fundación Jiménez Díaz, Madrid) ;
Pastor, Pau (Hospital Universitari Mútua de Terrassa) ;
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 (Center for Alzheimer Research, Karolinska Institutet, Sweden) ;
Thonberg, Håkan (Center for Alzheimer Research, Karolinska Institutet, Sweden) ;
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) ;
Clarimon, 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, Greece) ;
Koutroumani, Maria (Aristotle University of Thessaloniki, Greece) ;
Matěj, 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
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13 p, 955.5 KB |
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
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van der Zee, Julie (University of Antwerp) ;
Gijselinck, Ilse (University of Antwerp) ;
Van Mossevelde, Sara (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 (University Hospital Ghent and University of Ghent) ;
Baets, Jonathan (Antwerp University Hospital) ;
Gelpi, Ellen (Neurological Tissue Bank of the Biobanc - Hospital Clinic-Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS)) ;
Rojas García, Ricardo (Universitat Autònoma de Barcelona) ;
Clarimon, 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 (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 (University Hospital Ghent) ;
Santens, Patrick (University Hospital Ghent) ;
Dermaut, Bart (University Hospital Ghent) ;
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 (Fundació ACE, Institut Català de Neurociències Aplicades) ;
Boada Rovira, Mercè (Fundació ACE, Institut Català de Neurociències Aplicades) ;
Ruiz Laza, Agustín (Fundació ACE, Institut Català de Neurociències 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 (Hospital Clínic, IDIBAPS) ;
Lladó, Albert (Hospital Clínic, IDIBAPS) ;
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
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