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1.
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 (University Hospital Cologne. Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Faculty of Medicine) ; van den Akker, Erik (Delft University of Technology. Pattern Recognition and Bioinformatics) ; Hernández, Isabel (Centro de Investigacion Biomedica en Red en Enfermedades Neurodegenerativas (CIBERNED)) ; van Eijk, Kristel R. (University Medical Center Utrecht. Department of Neurology, Brain Center Rudolf Magnus) ; Stringa, Najada (Amsterdam Public Health Research Institute. Amsterdam UMC-Vrije Universiteit Amsterdam, Department of Epidemiology and Biostatistics) ; 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, Queen Square. 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 (Universitat Internacional de Catalunya. Research Center and Memory Clinic, Fundació ACE, Institut Català de Neurociències 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 Investigacion Biomedica en Red en Enfermedades Neurodegenerativas (CIBERNED)) ; 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 Investigacion Biomedica en Red en Enfermedades Neurodegenerativas (CIBERNED)) ; 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 Investigacion Biomedica en Red en Enfermedades Neurodegenerativas (CIBERNED)) ; Maier, Wolfgang (DZNE, German Center for Neurodegenerative Diseases) ; Dols-Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ; Kawalia, Amit (University Hospital Cologne. Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Faculty of Medicine) ; Dalmasso, Maria Carolina (Fundación Instituto Leloir-IIBBA-CONICET) ; Boada, Mercè (Centro de Investigacion Biomedica en Red en Enfermedades Neurodegenerativas (CIBERNED)) ; Zettl, Uwe K. (University of Rostock. Department of Neurology) ; van Schoor, Natasja M. (Amsterdam Public Health Research Institute. Amsterdam UMC-Vrije Universiteit Amsterdam, Department of Epidemiology and Biostatistics) ; Beekman, Marian (Leiden University Medical Center. Molecular Epidemiology) ; Allen, Mariet (Mayo Clinic Florida. Department of Neuroscience) ; Masliah, Eliezer (National Institute on Aging, National Institutes of Health. Laboratory of Neurogenetics) ; 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 (University Hospital Cologne. Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Faculty of Medicine) ; Ruiz, Agustín (Centro de Investigacion Biomedica en Red en Enfermedades Neurodegenerativas (CIBERNED)) ; 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  
2.
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 (University Hospital Cologne. Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Faculty of Medicine) ; van den Akker, Erik (Delft University of Technology. Pattern Recognition and Bioinformatics) ; Hernández, Isabel (Centro de Investigacion Biomedica en Red en Enfermedades Neurodegenerativas (CIBERNED)) ; van Eijk, Kristel R. (University Medical Center Utrecht. Department of Neurology, Brain Center Rudolf Magnus) ; Stringa, Najada (Amsterdam Public Health Research Institute. Amsterdam UMC-Vrije Universiteit Amsterdam, Department of Epidemiology and Biostatistics) ; 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, Queen Square. 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 (Universitat Internacional de Catalunya. Research Center and Memory Clinic, Fundació ACE, Institut Català de Neurociències 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 Investigacion Biomedica en Red en Enfermedades Neurodegenerativas (CIBERNED)) ; 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 Investigacion Biomedica en Red en Enfermedades Neurodegenerativas (CIBERNED)) ; 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 Investigacion Biomedica en Red en Enfermedades Neurodegenerativas (CIBERNED)) ; Maier, Wolfgang (DZNE, German Center for Neurodegenerative Diseases) ; Dols-Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ; Kawalia, Amit (University Hospital Cologne. Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Faculty of Medicine) ; Dalmasso, Maria Carolina (Fundación Instituto Leloir-IIBBA-CONICET) ; Boada, Mercè (Centro de Investigacion Biomedica en Red en Enfermedades Neurodegenerativas (CIBERNED)) ; Zettl, Uwe K. (University of Rostock. Department of Neurology) ; van Schoor, Natasja M. (Amsterdam Public Health Research Institute. Amsterdam UMC-Vrije Universiteit Amsterdam, Department of Epidemiology and Biostatistics) ; Beekman, Marian (Leiden University Medical Center. Molecular Epidemiology) ; Allen, Mariet (Mayo Clinic Florida. Department of Neuroscience) ; Masliah, Eliezer (National Institute on Aging, National Institutes of Health. Laboratory of Neurogenetics) ; 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 (University Hospital Cologne. Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Faculty of Medicine) ; Ruiz, Agustín (Centro de Investigacion Biomedica en Red en Enfermedades Neurodegenerativas (CIBERNED)) ; 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
2020 Department of Psychiatry, - 10.1007/s00401-019-02026-8
Acta Neuropathologica, Vol. 139 (january 2020) , p. 959-962  
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9 p, 2.0 MB Lack of pathogenic potential of peripheral α-synuclein aggregates from Parkinson's disease patients / Recasens, Ariadna (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Carballo-Carbajal, Iria (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Parent, Annabelle (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Bové, Jordi (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Gelpi, Ellen (Vienna, Austria) ; Tolosa, Eduardo (Barcelona, Spain) ; Vila Bover, Miquel (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular)
The online version of this article (10. 1186/s40478-018-0509-1) contains supplementary material, which is available to authorized users.
2018 - 10.1186/s40478-018-0509-1
Acta neuropathologica communications, Vol. 6 (february 2018)  
4.
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 (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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19 p, 8.9 MB Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy / Launay, Nathalie (CIBERER U759, Center for Biomedical Research on Rare Diseases, Barcelona, Spain) ; Ruiz, Montserrat (CIBERER U759, Center for Biomedical Research on Rare Diseases, Barcelona, Spain) ; Grau, Laia (CIBERER U759, Center for Biomedical Research on Rare Diseases, Barcelona, Spain) ; Ortega, Francisco J. (CIBERER U759, Center for Biomedical Research on Rare Diseases, Barcelona, Spain) ; Ilieva, Ekaterina V. (Global data, London, UK) ; Martínez, Juan José (CIBERER U759, Center for Biomedical Research on Rare Diseases, Barcelona, Spain) ; Galea, Elena (Universitat Autònoma de Barcelona. Institut de Neurociències) ; Ferrer, Isidre (CIBERNED, Center for Biomedical Research on Neurodegenerative Diseases, Barcelona, Spain) ; Knecht, Erwin (CIBERER U721, Center for Biomedical Research on Rare Diseases, Valencia, Spain) ; Pujol, Aurora (Barcelona, Spain) ; Fourcade, Stéphane (CIBERER U759, Center for Biomedical Research on Rare Diseases, Barcelona, Spain)
The online version of this article (doi:10. 1007/s00401-016-1655-9) contains supplementary material, which is available to authorized users.
2016 - 10.1007/s00401-016-1655-9
Acta Neuropathologica, Vol. 133 (december 2016) , p. 283-301  
6.
15 p, 4.8 MB The effects of the novel A53E alpha-synuclein mutation on its oligomerization and aggregation / Lázaro, Diana F. (Universitätsmedizin Göttingen) ; Dias, Mariana Castro (Universitätsmedizin Göttingen) ; Carija, Anita (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Navarro, Susanna (Universitat Autònoma de Barcelona. Departament de Bioquímica i Biomedicina Molecular) ; Madaleno, Carolina Silva (Universidade Nova de Lisboa. Centro de Estudos de Doenças Crónicas) ; Tenreiro, Sandra (Universidade Nova de Lisboa. Centro de Estudos de Doenças Crónicas) ; Ventura, Salvador (Universitat Autònoma de Barcelona. Departament de Bioquímica i Biologia Molecular) ; Outeiro, Tiago F. (Max-Planck-Gesellschaft)
α-synuclein (aSyn) is associated with both sporadic and familial forms of Parkinson's disease (PD), the second most common neurodegenerative disorder after Alzheimer's disease. In particular, multiplications and point mutations in the gene encoding for aSyn cause familial forms of PD. [...]
2016 - 10.1186/s40478-016-0402-8
Acta neuropathologica communications, Vol. 4 (2016) , art. 128  
7.
12 p, 849.5 KB A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease / Verheijen, Jan (Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ; Van den Bossche, Tobi (Department of Neurology and Memory Clinic, Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken, Antwerp, Belgium) ; van der Zee, Julie (Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ; Engelborghs, Sebastiaan (Department of Neurology and Memory Clinic, Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken, Antwerp, Belgium) ; Sánchez Valle, Raquel (Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Department, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain) ; Lladó, Albert (Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Department, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain) ; Graff, Caroline (Genetics Unit, Department of Geriatric Medicine, Karolinska University Hospital, Stockholm, Sweden) ; Thonberg, Håkan (Genetics Unit, Department of Geriatric Medicine, Karolinska University Hospital, Stockholm, Sweden) ; Pastor, Pau (Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain) ; Ortega-Cubero, Sara (Department of Neurology, Complejo Asistencial Universitario de Palencia, Palencia, Spain) ; Pastor, Maria A. (Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine, Pamplona, Spain) ; Benussi, Luisa (Molecular Markers Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy) ; Ghidoni, Roberta (Molecular Markers Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy) ; Binetti, Giuliano (MAC Memory Center, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy) ; Clarimon, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Lleó Bisa, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Fortea Ormaechea, Juan (Institut d'Investigació Biomèdica Sant Pau) ; de Mendonça, Alexandre (Faculty of Medicine and Institute of Molecular Medicine, University of Lisbon, Lisbon, Portugal) ; Martins, Madalena (Faculty of Medicine and Institute of Molecular Medicine, University of Lisbon, Lisbon, Portugal) ; Grau-Rivera, Oriol (Neurological Tissue Bank of the Biobanc, Hospital Clinic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain) ; Gelpi, Ellen (Neurological Tissue Bank of the Biobanc, Hospital Clinic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain) ; Bettens, Karolien (Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ; Mateiu, Ligia (Bioinformatics Unit, Department of Molecular Genetics, VIB, Antwerp, Belgium) ; Dillen, Lubina (Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ; Cras, Patrick (Department of Neurology, Antwerp University Hospital, Edegem, Belgium) ; De Deyn, Peter P. (Department of Neurology and Memory Clinic, Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken, Antwerp, Belgium) ; Van Broeckhoven, Christine (Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ; Sleegers, Kristel (Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ; Universitat Autònoma de Barcelona
The sortilin-related receptor 1 (SORL1) gene has been associated with increased risk for Alzheimer's disease (AD). Rare genetic variants in the SORL1 gene have also been implicated in autosomal dominant early-onset AD (EOAD). [...]
2016 - 10.1007/s00401-016-1566-9
Acta Neuropathologica, Vol. 132 (march 2016) , p. 213-224  
8.
13 p, 663.0 KB Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease / Pera, Marta (Institut d'Investigació Biomèdica Sant Pau) ; Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ; Sánchez-Valle, Raquel (Alzheimer's Disease and other Cognitive Disorders Unit, Department of Neurology, Hospital Clínic, Barcelona, Spain) ; Guardia-Laguarta, Cristina (Institut d'Investigació Biomèdica Sant Pau) ; Colom-Cadena, Martí (Institut d'Investigació Biomèdica Sant Pau) ; Badiola Benito, Nahuai (Institut d'Investigació Biomèdica Sant Pau) ; Suárez-Calvet, Marc (Institut d'Investigació Biomèdica Sant Pau) ; Lladó, Albert (Alzheimer's Disease and other Cognitive Disorders Unit, Department of Neurology, Hospital Clínic, Barcelona, Spain) ; Barrera-Ocampo, Alvaro A. (Grupo de Neurociencias de Antioquia, Faculty of Medicine, University of Antioquia, Medellín, Colombia) ; Sepulveda-Falla, Diego (Grupo de Neurociencias de Antioquia, Faculty of Medicine, University of Antioquia, Medellín, Colombia) ; Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ; Molinuevo, José L. (Alzheimer's Disease and other Cognitive Disorders Unit, Department of Neurology, Hospital Clínic, Barcelona, Spain) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Ferrer, Isidre (Institut de Neuropatología, Servei Anatomia Patológica, IDIBELL, Hospital Universitari de Bellvitge, University of Barcelona, Barcelona, Spain) ; Gelpi, Ellen (Neurological Tissue Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona, Spain) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
The online version of this article (doi:10. 1007/s00401-012-1062-9) contains supplementary material, which is available to authorized users.
2012 - 10.1007/s00401-012-1062-9
Acta Neuropathologica, Vol. 125 (december 2012) , p. 201-213  

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