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Artículos, Encontrados 3 registros
Artículos Encontrados 3 registros  
1.
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  
2.
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  
3.
9 p, 1.9 MB Presence and Function of Dopamine Transporter (DAT) in Stallion Sperm : Dopamine Modulates Sperm Motility and Acrosomal Integrity / Urra, Javier A. (Universidad Austral de Chile. Facultad de Ciencias Veterinarias) ; Villaroel-Espíndola, Franz (Universidad Austral de Chile. Facultad de Ciencias) ; Covarrubias, Alejandra A. (Universidad Austral de Chile. Facultad de Ciencias) ; Rodríguez Gil, Joan Enric (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia Animals) ; Ramírez-Reveco, Alfredo (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia Animals) ; Concha, Ilona I. (Universidad Austral de Chile. Facultad de Ciencias)
Dopamine is a catecholamine with multiple physiological functions, playing a key role in nervous system; however its participation in reproductive processes and sperm physiology is controversial. High dopamine concentrations have been reported in different portions of the feminine and masculine reproductive tract, although the role fulfilled by this catecholamine in reproductive physiology is as yet unknown. [...]
2014 - 10.1371/journal.pone.0112834
PloS one, Vol. 9, Issue 11 (November 2014) , p. e112834  

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