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Artículos, Encontrados 8 registros
Artículos Encontrados 8 registros  
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  
3.
Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset / Billingsley, K.J. (Laboratory of Neurogenetics. National Institute on Aging. National Institutes of Health) ; Barbosa, I.A. (Department of Medical and Molecular Genetics. King's College London School of Basic and Medical Biosciences) ; Bandrés-Ciga, S. (Laboratory of Neurogenetics. National Institute on Aging. National Institutes of Health) ; 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. (Department of Medical and Molecular Genetics. King's College London School of Basic and Medical Biosciences) ; Blauwendraat, C. (Laboratory of Neurogenetics. National Institute on Aging. National Institutes of Health) ; Gan-Or, Z. (Department of Human Genetics. McGill University) ; Gibbs, J.R. (Laboratory of Neurogenetics. National Institute on Aging. National Institutes of Health) ; Nalls, M.A. (Data Tecnica International) ; Singleton, A. (Laboratory of Neurogenetics. National Institute on Aging. National Institutes of Health) ; Noyce, A. (Preventive Neurology Unit. Wolfson Institute of Preventive Medicine. QMUL) ; Tucci, A. (Department of Molecular Neuroscience. UCL Institute of Neurology) ; Middlehurst, B. ; Kia, D. (UCL Genetics Institute; and Department of Molecular Neuroscience. UCL Institute of Neurology) ; Tan, M. (Department of Clinical Neuroscience. University College London) ; Houlden, H. (Department of Molecular Neuroscience. UCL Institute of Neurology) ; Morris, H.R. (Department of Clinical Neuroscience. University College London) ; Plun-Favreau, H. (Department of Molecular Neuroscience. UCL Institute of Neurology) ; Holmans, P. (Biostatistics & Bioinformatics Unit. Institute of Psychological Medicine and Clinical Neuroscience. MRC Centre for Neuropsychiatric Genetics & Genomics) ; Hardy, J. (Department of Molecular Neuroscience. UCL Institute of Neurology) ; Trabzuni, D. (Department of Genetics. King Faisal Specialist Hospital and Research Centre) ; Bras, J. (UK Dementia Research Institute at UCL and Department of Molecular Neuroscience. UCL Institute of Neurology) ; Mok, K. (Department of Molecular Neuroscience. UCL Institute of Neurology) ; Kinghorn, K. (Institute of Healthy Ageing. University College London) ; Wood, N. (UCL Genetics Institute; and Department of Molecular Neuroscience. UCL Institute of Neurology) ; Lewis, P. (University of Reading) ; Guerreiro, R. (UK Dementia Research Institute at UCL and Department of Molecular Neuroscience. UCL Institute of Neurology) ; Lovering, R. (University College London) ; R'Bibo, L. (Department of Molecular Neuroscience. UCL Institute of Neurology) ; Rizig, M. (Department of Molecular Neuroscience. UCL Institute of Neurology) ; Escott-Price, V. (Cardiff University School of Medicine) ; Chelban, V. (Department of Molecular Neuroscience. UCL Institute of Neurology) ; 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, P. (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. (Laboratory of Neurogenetics. National Institute on Aging. National Institutes of Health) ; Cookson, M. (Laboratory of Neurogenetics. National Institute on Aging. National Institutes of Health) ; Faghri, F. (Department of Computer Science. University of Illinois at Urbana-Champaign) ; Hernandez, D. (Laboratory of Neurogenetics. National Institute on Aging. National Institutes of Health) ; 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. (Laboratory of Neurogenetics. National Institute on Aging. National Institutes of Health) ; Leonard, H. (Laboratory of Neurogenetics. National Institute on Aging. National Institutes of Health) ; 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. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; Aguilar, M. (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. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; Blazquez, M. (Hospital Universitario Central de Asturias) ; Bernal, M.B.T. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; 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. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; Cámara, A. (Hospital Clinic 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. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; Carrión-Claro, M. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; Cerdan, D. (Hospital General de Segovia) ; Clarimón, J. (Institut d'Investigació Biomèdica Sant Pau) ; Compta, Y. (Hospital Clinic de Barcelona) ; Diez-Fairen, M. (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 en Enfermedades Neurodegenerativas (CIBERNED)) ; 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 Clinic de Barcelona) ; Fernández, M. (Hospital Clinic de Barcelona) ; Fernández-Santiago, R. (Hospital Clinic de Barcelona) ; Garcia, C. (Hospital Universitario Central de Asturias) ; García-Ruiz, P. (Instituto de Investigación Sanitaria Fundación Jiménez Díaz) ; Gómez-Garre, P. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; Heredia, M.G. (Hospital Universitario Virgen de la Victoria) ; 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. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; Jimenez-Escrig, A. (Hospital Universitario Ramón y Cajal Madrid) ; Kulisevsky, J. (Institut d'Investigació Biomèdica Sant Pau) ; Labrador-Espinosa, M. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; Lopez-Sendon, J. (Hospital Universitario Ramón y Cajal Madrid) ; de Munain Arregui, A.L. (Hospital Universitario Ramón y Cajal Madrid) ; Macias, D. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; Torres, I.M. (Department of Neurology. Instituto de Investigación Sanitaria La Fe. Hospital Universitario y Politécnico La Fe) ; Marín, J. (Institut d'Investigació Biomèdica Sant Pau) ; Marti, M.J. (Hospital Clinic de Barcelona) ; Martínez-Castrillo, J. (Hospital Universitario Ramón y Cajal Madrid) ; Méndez-del-Barrio, C. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; Menéndez González, M. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; Mínguez, A. (Hospital Universitario Virgen de las Nieves. Instituto de Investigación Biosanitaria de Granada) ; Mir, P. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; Rezola, E.M. (Instituto de Investigación Sanitaria Biodonostia) ; Muñoz García, José Esteban (Hospital Clinic 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) ; Periñán-Tocino, T. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; 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. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; Tolosa, E. (Hospital Clinic de Barcelona) ; Valldeoriola, F. (Hospital Clinic de Barcelona) ; Vargas-González, L. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; 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  
4.
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. (Laboratory of Neurogenetics. National Institute on Aging. US National Institutes of Health) ; Cookson, M.R. (Laboratory of Neurogenetics. National Institute on Aging. US National Institutes of Health) ; Bandres-Ciga, S. (Laboratory of Neurogenetics. National Institute on Aging. US National Institutes of Health) ; Gibbs, J.R. (Laboratory of Neurogenetics. National Institute on Aging. US National Institutes of Health) ; Hernandez, D.G. (Laboratory of Neurogenetics. National Institute on Aging. US National Institutes of Health) ; Singleton, A.B. (Laboratory of Neurogenetics. National Institute on Aging. US National Institutes of Health) ; Reed, X. (Laboratory of Neurogenetics. National Institute on Aging. US National Institutes of Health) ; Leonard, H. (Laboratory of Neurogenetics. National Institute on Aging. US National Institutes of Health) ; 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. (Biostatistics & Bioinformatics Unit. Institute of Psychological Medicine and Clinical Neuroscience. 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) ; 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, P. (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. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; Bernal-Bernal, I. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; Bonilla-Toribio, M. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; Buiza-Rueda, D. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; Carrillo, F. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; Carrión-Claro, M. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; Mir, P. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; Gómez-Garre, P. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; Jesús, S. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; Labrador-Espinosa, M.A. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; Macias, D. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; Vargas-González, L. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; Méndez-del-Barrio, C. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; Periñán-Tocino, T. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; Tejera-Parrado, C. (Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ; Diez-Fairen, M. (Fundació Docència i Recerca Mútua de Terrassa and Movement Disorders Unit. Department of Neurology. University Hospital Mutua de Terrassa. Terrassa) ; Aguilar, M. (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 Clinic de Barcelona) ; Compta, Y. (Hospital Clinic de Barcelona) ; Ezquerra, M. (Hospital Clinic de Barcelona) ; Marti, M.J. (Hospital Clinic de Barcelona) ; Fernández, M. (Hospital Clinic de Barcelona) ; Muñoz García, José Esteban (Hospital Clinic de Barcelona) ; Fernández-Santiago, R. (Hospital Clinic de Barcelona) ; Tolosa, E. (Hospital Clinic de Barcelona) ; Valldeoriola, F. (Hospital Clinic de Barcelona) ; García-Ruiz, P. (Instituto de Investigación Sanitaria Fundación Jiménez Díaz) ; Heredia, M.J.G. (Hospital Universitario Virgen de la Victoria) ; Errazquin, F.P. (Hospital Universitario Virgen de la Victoria) ; Hoenicka, J. (Institut de Recerca Sant Joan de Déu) ; Jimenez-Escrig, A. (Hospital Universitario Ramón y Cajal) ; Martínez-Castrillo, J.C. (Hospital Universitario Ramón y Cajal) ; Lopez-Sendon, J.L. (Hospital Universitario Ramón y Cajal) ; Torres, I.M. (Department of Neurology. Instituto de Investigación Sanitaria La Fe. Hospital Universitario y Politécnico La Fe) ; 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. (Brain and Mind Centre. Sydney Medical School. University of Sydney) ; Hickie, I. (Brain and Mind Centre. Sydney Medical School. University of Sydney) ; Kwok, J. (Brain and Mind Centre. Sydney Medical School. University of Sydney) ; Lewis, S. (Brain and Mind Centre. Sydney Medical School. University of Sydney) ; 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  
5.
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  
6.
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 (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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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  
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10 p, 498.4 KB Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort / Cacace, Rita (University of Antwerp) ; Van den Bossche, Tobi (Antwerp University Hospital) ; Engelborghs, Sebastiaan (Hospital Network Antwerp () ; Geerts, Nathalie (University of Antwerp) ; Laureys, Annelies (University of Antwerp) ; Dillen, Lubina (University of Antwerp) ; Graff, Caroline (Karolinska University Hospital) ; Thonberg, Håkan (Karolinska University Hospital) ; Chiang, Huei-Hsin (Karolinska University Hospital) ; Pastor, Pau (Instituto de Salud Carlos III) ; Ortega-Cubero, Sara (Instituto de Salud Carlos III) ; Pastor, Maria A. (Universidad de Navarra. Facultad de Medicina) ; Diehl-Schmid, Janine (Technische Universität München) ; Alexopoulos, Panagiotis (Technische Universität München) ; Benussi, Luisa (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ; Ghidoni, Roberta (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ; Binetti, Giuliano (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ; Nacmias, Benedetta (University of Florence) ; Sorbi, Sandro (University of Florence) ; Sanchez-Valle, Raquel (Institut d'Investigacions Biomediques August Pi i Sunyer) ; Lladó, Albert (Institut d'Investigacions Biomediques August Pi i Sunyer) ; Gelpi, Ellen (Institut d'Investigacions Biomediques August Pi i Sunyer) ; Almeida, Maria Rosário (University of Coimbra) ; Santana, Isabel (University of Coimbra) ; Tsolaki, Magda (Aristotle University of Thessaloniki) ; Koutroumani, Maria (Aristotle University of Thessaloniki) ; Clarimon, Jordi (Universitat Autònoma de Barcelona. Departament de Neurologia) ; Lleó Bisa, Alberto (Universitat Autònoma de Barcelona. Departament de Neurologia) ; Fortea, Juan (Universitat Autònoma de Barcelona. Departament de Neurologia) ; de Mendonça, Alexandre (University of Lisbon) ; Martins, Madalena (University of Lisbon) ; Borroni, Barbara (University of Brescia) ; Padovani, Alessandro (University of Brescia) ; Matej, Radoslav (Thomayer Hospital) ; Rohan, Zdenek (Third Medical Faculty of Charles University in Prague) ; Vandenbulcke, Mathieu (University of Leuven) ; Vandenberghe, Rik (University Hospitals Leuven) ; De Deyn, Peter P. (Hospital Network Antwerp) ; Cras, Patrick (Antwerp University Hospital) ; van der Zee, Julie (University of Antwerp) ; Sleegers, Kristel (University of Antwerp) ; Van Broeckhoven, Christine (University of Antwerp)
Rare variants in the phospholipase D3 gene (PLD3) were associated with increased risk for late-onset Alzheimer disease (LOAD). We identified a missense mutation in PLD3 in whole-genome sequence data of a patient with autopsy confirmed Alzheimer disease (AD) and onset age of 50 years. [...]
2015 - 10.1002/humu.22908
Human Mutation, Vol. 36 (october 2015) , p. 1226-1235  

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