Resultats globals: 9 registres trobats en 0.02 segons.
Articles, 9 registres trobats
Articles 9 registres trobats  
1.
16 p, 1.8 MB Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information / Guelfi, Sebastian (University College London (UCL) Institute of Neurology) ; D'Sa, Karishma (Guy's and St Thomas' NHS Foundation Trust (Regne Unit)) ; Botía, Juan A. (Universidad de Murcia) ; Vandrovcova, Jana (University College London (UCL) Institute of Neurology) ; Reynolds, Regina H. (University College London (UCL) Institute of Neurology) ; Zhang, David (University College London (UCL) Institute of Neurology) ; Trabzuni, Daniah (King Faisal Specialist Hospital and Research Centre) ; Collado-Torres, Leonardo (Lieber Institute for Brain Development) ; Thomason, Andrew (University of London) ; Quijada Leyton, Pedro (University of London) ; Gagliano Taliun, Sarah A. (University of Michigan) ; Nalls, Mike A. (Data Tecnica International) ; Noyce, Alastair J. (Wolfson Institute of Preventive Medicine) ; Nicolas, Aaude (National Institute on Aging (Estats Units d'Amèrica)) ; Cookson, Mark R. (National Institute on Aging (Estats Units d'Amèrica)) ; Bandres-Ciga, Sara (National Institute on Aging (Estats Units d'Amèrica)) ; Gibbs, J. Raphael (National Institute on Aging (Estats Units d'Amèrica)) ; Hernandez, Dena G. (National Institute on Aging (Estats Units d'Amèrica)) ; Singleton, Andrew B. (National Institute on Aging (Estats Units d'Amèrica)) ; Reed, Xylena (National Institute on Aging (Estats Units d'Amèrica)) ; Leonard, Hampton L (National Institute on Aging (Estats Units d'Amèrica)) ; Blauwendraat, Cornelis (Wolfson Institute of Preventive Medicine) ; Faghri, Faraz (University of Illinois at Urbana-Champaign) ; Bras, Jose (King's College London) ; Guerreiro, Rita (University College London) ; Tucci, Arianna (University College London) ; Kia, Demis A. (University College London) ; Houlden, Henry (University College London) ; Plun-Favreau, Helene (University College London) ; Mok, Kin Ying (University College London) ; Wood, Nicholas W. (University College London) ; Lovering, Ruth Caroline (University College London) ; R'Bibo, Lea (University College London) ; Rizig, Mie (University College London) ; Chelban, Viorica (UCL Institute of Neurology (Regne Unit)) ; Tan, Manuela (Singapore Institute for Clinical Sciences) ; Morris, Huw (University College London) ; Middlehurst, Ben (Institute of Translational Medicine) ; Quinn, John (Institute of Translational Medicine) ; Billingsley, Kimberley (Institute of Translational Medicine) ; Holmans, Peter (MRC Centre for Neuropsychiatric Genetics & Genomics) ; Kinghorn, Kerri J. (University College London) ; Lewis, Patrick (University of Reading) ; Escott-Price, Valentina (Cardiff University School of Medicine) ; Williams, Nigel (MRC Cardiff University School of Medicine) ; Foltynie, Thomas (UCL Institute of Neurology (Regne Unit)) ; Brice, Alexis (Pitié-Salpêtrière Hospital6. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital) ; Danjou, Fabrice (Pitié-Salpêtrière Hospital6. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital) ; Lesage, Suzanne (Pitié-Salpêtrière Hospital6. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital) ; Corvol, Jean-Christophe (Pitié-Salpêtrière Hospital6. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital) ; Martinez, Maria M. (Paul Sabatier University) ; Giri, Anamika (DZNE. German Center for Neurodegenerative Diseases) ; Schulte, Claudia (DZNE. German Center for Neurodegenerative Diseases) ; Brockmann, Kathrin (DZNE. German Center for Neurodegenerative Diseases) ; Simón-Sánchez, Javier (DZNE. German Center for Neurodegenerative Diseases) ; Heutink, Peter (DZNE. German Center for Neurodegenerative Diseases) ; Gasser, Thomas (DZNE. German Center for Neurodegenerative Diseases) ; Rizzu, Patrizia (DZNE. German Center for Neurodegenerative Diseases) ; Sharma, Manu (University of Tubingen) ; Shulman, Joshua M. (Texas Children's Hospital) ; Robak, Laurie (Baylor College of Medicine) ; Lubbe, Steven (Northwestern University Feinberg School of Medicine) ; Mencacci, Niccolò Emanuele (Northwestern University Feinberg School of Medicine) ; Finkbeiner, Steven (Taube/Koret Center for Neurodegenerative Disease Research) ; Lungu, Codrin (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ; Scholz, Sonja (National Institute of Neurological Disorders and Stroke) ; Gan-Or, Ziv (McGill University) ; Rouleau, Guy A. (McGill University) ; Krohan, Lynne (Leiden University Medical Center) ; van Hilten, Jacobus J. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Marinus, Johan (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Adarmes-Gómez, A.D (Hospital Universitari MútuaTerrassa) ; Bernal-Bernal, Inmaculada (Hospital Universitari MútuaTerrassa) ; Bonilla-Toribio, Marta (Hospital Universitari MútuaTerrassa) ; Buiza-Rueda, Dolores (Hospital Universitari MútuaTerrassa) ; Carrillo, Fátima (Hospital Universitari MútuaTerrassa) ; Carrión-Claro, M (Hospital Universitari MútuaTerrassa) ; Mir, Pablo (Hospital Universitari MútuaTerrassa) ; Gómez-Garre, Pilar (Hospital Universitari MútuaTerrassa) ; Jesús, Silvia (Hospital Universitari MútuaTerrassa) ; Labrador-Espinosa, Miguel A. (Hospital Universitari MútuaTerrassa) ; Macias, Daniel (Hospital Universitari MútuaTerrassa) ; Vargas-González, Laura (Hospital Universitari MútuaTerrassa) ; Méndez-del-Barrio, Carlota (Hospital Universitari MútuaTerrassa) ; Periñán, Teresa (Hospital Universitari MútuaTerrassa) ; Tejera-Parrado, Cristina (Hospital Universitari MútuaTerrassa) ; Diez-Fairen, Monica (Hospital Universitario Central de Asturias) ; Aguilar, Miquel (Hospital Universitario Central de Asturias) ; Alvarez, Ignacio (Hospital Universitario Central de Asturias) ; Boungiorno, María Teresa (Hospital Universitario Central de Asturias) ; Carcel, Maria (Hospital Universitario Central de Asturias) ; Pastor, Pau (Hospital Universitario Central de Asturias) ; Tartari, Juan Pablo (Hospital Universitario Central de Asturias) ; Alvarez, Victoria (Hospital Universitario Parque Tecnologico de la Salud) ; Mendez-Gonzalez, Manuel (Hospital Universitario Parque Tecnologico de la Salud) ; Blazquez, Marta (Hospital Universitario Parque Tecnologico de la Salud) ; Garcia, Ciara (Hospital Universitario Parque Tecnologico de la Salud) ; Suarez-Sanmartin, Esther (Hospital Universitario Parque Tecnologico de la Salud) ; Barrero, Francisco Javier (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Mondragon Rezola, Elisabet (Hospital General de Segovia) ; Bergareche Yarza, Jesús Alberto (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Pagola, Ana Gorostidi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; de Munain Arregui, Adolfo Lopez (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Ruiz-Martínez, Javier (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Cerdan, Debora (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Duarte, Jacinto (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ; Infante, Jon (Instituto de Investigación Sanitaria de Granada) ; Marín, Juan (Hospital Clínic i Provincial de Barcelona) ; Kulisevsky, Jaime (Hospital Clínic i Provincial de Barcelona) ; Pagonabarraga Mora, Javier (Hospital Clínic i Provincial de Barcelona) ; Gonzalez-Aramburu, Isabel (Universidad de Granada) ; Sanchez Rodriguez, Antonio (Universidad de Granada) ; Sierra, Maria (Universidad de Granada) ; Duran, Raquel (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Ruz, Clara (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Vives, Francisco (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Escamilla Sevilla, Francisco (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Mínguez-Castellanos, Adolfo (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Cámara, Ana (Institut de Recerca Sant Joan de Déu) ; Compta, Yaroslau (Institut de Recerca Sant Joan de Déu) ; Ezquerra, Mario (Institut de Recerca Sant Joan de Déu) ; Marti, Maria Jose (Institut de Recerca Sant Joan de Déu) ; Fernández, Manel (Institut de Recerca Sant Joan de Déu) ; Muñoz, Esteban (Institut de Recerca Sant Joan de Déu) ; Fernández-Santiago, Rubén (Institut de Recerca Sant Joan de Déu) ; Tolosa, Eduard (Institut de Recerca Sant Joan de Déu) ; Valldeoriola, Francesc (Institut de Recerca Sant Joan de Déu) ; García-Ruiz, Pedro (Hospital Universitario Ramón y Cajal (Madrid)) ; Gómez-Heredia, Maria José (Hospital Universitari i Politècnic La Fe de Valencia) ; Perez Errazquin, Francisco (Hospital Universitari i Politècnic La Fe de Valencia) ; Hoenicka, Janet (Hospital General de Segovia) ; Jiménez-Escrig, Adriano (Hospital General de Segovia) ; Martínez-Castrillo, Juan Carlos (Hospital General de Segovia) ; Lopez-Sendon, Jose Luis (Hospital General de Segovia) ; Martinez Torres, Irene (Hospital Universitario Fundación Alcorcón) ; Tabernero, Cesar (Hospital Universitario Fundación Alcorcón) ; Vela, Lydia (Hospital Universitario Fundación Alcorcón) ; Zimprich, Alexander (Medical University of Vienna) ; Pihlstrom, Lasse (Oslo University Hospital (Oslo, Noruega)) ; Koks, Sulev (Perron Institute for Neurological and Translational Science) ; Taba, Pille (University of Tartu) ; Majamaa, Kari (Oulu University Hospital (Finlàndia)) ; Siitonen, Ari (Oulu University Hospital (Finlàndia)) ; Okubadejo, Njideka (University of Lago) ; Ojo, Oluwadamilola (University of Lago) ; Forabosco, Paola (Cittadella Universitaria di Cagliari) ; Walker, Robert (University of Edinburgh) ; Small, Kerrin (King's College London) ; Smith, Colin (University of Edinburgh) ; Ramasamy, Adaikalavan (Brenner Centre for Molecular Medicine) ; Hardy, John (University College London (UCL) Institute of Neurology) ; Weale, Michael (Genomics plc) ; Ryten, Mina (University College London (UCL) Institute of Neurology) ; Universitat Autònoma de Barcelona
Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric disease risk. An improved understanding of the genetic control of gene expression in human brain is vital considering this is the likely modus operandum for many causal variants. [...]
2020 - 10.1038/s41467-020-14483-x
Nature communications, Vol. 11 Núm. 1 (january 2020) , p. 1041  
2.
12 p, 1.2 MB Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis / Gao, Yixin (Xuzhou Medical University) ; Wang, Ting (Xuzhou Medical University) ; Yu, Xinghao (Xuzhou Medical University) ; Ferrari, Raffaele (Russell Square House) ; Hernandez, Dena G. (Queen Square) ; Nalls, Michael A. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Rohrer, Jonathan D. (Queen Square) ; Ramasamy, Adaikalavan (University of Oxford) ; Kwok, John B.J. (University of New South Wales) ; Dobson-Stone, Carol (University of New South Wales) ; Brooks, William S. (University of New South Wales) ; Schofield, Peter R. (Neuroscience Research Australia) ; Halliday, Glenda M. (Neuroscience Research Australia) ; Hodges, John R. (Neuroscience Research Australia) ; Piguet, Olivier (Neuroscience Research Australia) ; Bartley, Lauren (Neuroscience Research Australia) ; Thompson, Elizabeth (University of Adelaide) ; Haan, Eric (University of Adelaide) ; Hernández, Isabel (Institut Català de Neurociéncies Aplicades) ; Ruiz, Agustín (Institut Català de Neurociéncies Aplicades) ; Boada, Mercè (Institut Català de Neurociéncies Aplicades) ; Borroni, Barbara (University of Brescia) ; Padovani, Alessandro (University of Brescia) ; Cruchaga, Carlos (Washington University School of Medicine) ; Cairns, Nigel J. (Washington University) ; Benussi, Luisa (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Binetti, Giuliano (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Ghidoni, Roberta (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Forloni, Gianluigi (IRCCS Istituto di Ricerche Farmacologiche. "Mario Negri") ; Albani, Diego (IRCCS Istituto di Ricerche Farmacologiche. "Mario Negri") ; Galimberti, Daniela (IRCCS Ospedale Maggiore Policlinico) ; Fenoglio, Chiara (IRCCS Ospedale Maggiore Policlinico) ; Serpente, Maria (IRCCS Ospedale Maggiore Policlinico) ; Scarpini, Elio (University of Milan) ; Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ; Waldö, Maria Landqvist (Lund University) ; Nilsson, Karin (Lund University) ; Nilsson, Christer (Lund University) ; Mackenzie, Ian R.A. (University of British Columbia) ; Hsiung, Ging-Yuek R. (University of British Columbia) ; Mann, David M. A. (Salford Royal Hospital) ; Grafman, Jordan (Northwestern University) ; Morris, Christopher M. (Newcastle University) ; Attems, Johannes (Newcastle University) ; Griffiths, Timothy D. (Newcastle University Medical School) ; McKeith, Ian G. (Newcastle University) ; Thomas, Alan J. (Newcastle University) ; Pietrini, Pietro (IMT School for Advanced Studies) ; Huey, Edward D. (Columbia University) ; Wassermann, Eric M. (National Insititutes of Health) ; Baborie, Atik (University of Alberta Edmonton) ; Jaros, Evelyn (Newcastle University) ; Tierney, Michael C. (National Insititutes of Health) ; Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Razquin, Cristina (Universidad de Navarra) ; Ortega-Cubero, Sara (Universidad de Navarra) ; Alonso, Elena (Universidad de Navarra) ; Perneczky, Robert (West London Mental Health Trust) ; Diehl-Schmid, Janine (Technische Universität München) ; Alexopoulos, Panagiotis (Technische Universität München) ; Kurz, Alexander (Technische Universität München) ; Rainero, Innocenzo (A.O. Città della Salute e della Scienza di Torino) ; Rubino, Elisa (A.O. Città della Salute e della Scienza di Torino) ; Pinessi, Lorenzo (A.O. Città della Salute e della Scienza di Torino) ; Rogaeva, Ekaterina (University of Toronto) ; St George Hyslop, Peter (University of Cambridge) ; Rossi, Giacomina (Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Tagliavini, Fabrizio (Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Giaccone, Giorgio (Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Rowe, James B. (Behavioural and Clinical Neuroscience Institute) ; Schlachetzki, Johannes C. M. (University of California San Diego) ; Uphill, James (University College London. Institute of Neurology) ; Collinge, John (University College London. Institute of Neurology) ; Mead, Simon (University College London. Institute of Neurology) ; Danek, Adrian (German Center for Neurodegenerative Diseases (DZNE)) ; Van Deerlin, Vivianna M. (University of Pennsylvania Perelman School of Medicine) ; Grossman, Murray (University of Pennsylvania Perelman School of Medicine) ; Trojanowski, John Q. (University of Pennsylvania Perelman School of Medicine) ; van der Zee, Julie (University of Antwerp) ; Cruts, Marc (University of Antwerp) ; Van Broeckhoven, Christine (University of Antwerp) ; Cappa, Stefano F. (Vita-Salute University and San Raffaele Scientific Institute) ; Leber, Isabelle (CNRS UMR 7225) ; Hannequin, Didier (Rouen University Hospital (França)) ; Golfier, Véronique (CH Saint Brieuc) ; Vercelletto, Martine (CHU Nantes) ; Brice, Alexis (AP-HP. Hôpital de la Salpêtrière) ; Nacmias, Benedetta (University of Florence) ; Sorbi, Sandro (University of Florence and IRCCS "Don Carlo Gnocchi" Firenze) ; Bagnoli, Silvia (University of Florence) ; Piaceri, Irene (University of Florence) ; Nielsen, Jørgen E. (Copenhagen University Hospital) ; Hjermind, Lena E. (University of Copenhagen) ; Riemenschneider, Matthias (Saarland University) ; Mayhaus, Manuel (Saarland University) ; Ibach, Bernd (University Regensburg) ; Gasparoni, Gilles (Saarland University) ; Pichler, Sabrina (Saarland University) ; Gu, Wei (University of Luxembourg) ; Rossor, Martin N. (Queen Square) ; Fox, Nick C. (University College London Queen Square Institute of Neurology. Dementia Research Centre) ; Warren, Jason D. (Queen Square) ; Spillantini, Maria Grazia (University of Cambridge) ; Morris, Huw R. (Russell Square House) ; Rizzu, Patrizia (German Center for Neurodegenerative Diseases-Tübingen) ; Heutink, Peter (German Center for Neurodegenerative Diseases-Tübingen) ; Snowden, Julie S. (University of Manchester) ; Rollinson, Sara (University of Manchester) ; Richardson, Anna (University of Manchester) ; Gerhard, Alexander (The University of Manchester) ; Bruni, Amalia C. (ASPCZ) ; Maletta, Raffaele (ASPCZ) ; Frangipane, Francesca (ASPCZ) ; Cupidi, Chiara (ASPCZ) ; Bernardi, Livia (ASPCZ) ; Anfossi, Maria (ASPCZ) ; Gallo, Maura (ASPCZ) ; Conidi, Maria Elena (ASPCZ) ; Smirne, Nicoletta (ASPCZ) ; Rademakers, Rosa (Mayo Clinic Jacksonville) ; Baker, Matt (Mayo Clinic Jacksonville) ; Dickson, Dennis W. (Mayo Clinic Jacksonville) ; Graff-Radford, Neill R. (Mayo Clinic Jacksonville) ; Petersen, Ronald C. (Mayo Clinic Rochester) ; Knopman, David (Mayo Clinic Rochester) ; Josephs, Keith A. (Mayo Clinic Rochester) ; Boeve, Bradley (Mayo Clinic Rochester) ; Parisi, Joseph E. (Mayo Clinic Rochester) ; Seeley, William W. (University of California) ; Miller, Bruce L. (University of California) ; Karydas, Anna M. (University of California) ; Rosen, Howard (University of California) ; van Swieten, John C. (VU University Medical Centre) ; Dopper, Elise G. P. (Erasmus Medical Centre) ; Seelaar, Harro (Erasmus Medical Centre) ; Pijnenburg, Yolande A. L. (VU University Medical Centre) ; Scheltens, Philip (VU University Medical Centre) ; Logroscino, Giancarlo (University of Bari) ; Capozzo, Rosa (University of Bari) ; Novelli, Valeria (Fondazione Policlinico Universitario A. Gemelli) ; Puca, Annibale A. (University of Salerno) ; Franceschi, Massimo (IRCCS Multimedica) ; Postiglione, Alfredo (University of Naples Federico II) ; Milan, Graziella (Geriatric Center Frullone- ASL Napoli 1 Centro) ; Sorrentino, Paolo (Geriatric Center Frullone- ASL Napoli 1 Centro) ; Kristiansen, Mark (Institute of Child Health (ICH)) ; Chiang, Huei-Hsin (Karolinska University Hospital and Karolinska Institutet (Suecia)) ; Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suecia)) ; Pasquier, Florence (Univ Lille) ; Rollin, Adeline (Univ Lille) ; Deramecourt, Vincent (Univ Lille) ; Lebouvier, Thibaud (Univ Lille) ; Kapogiannis, Dimitrios (National Institute on Aging (NIA/NIH)) ; Ferrucci, Luigi (National Institute on Aging (Baltimore, Estats Units d'Amèrica)) ; Pickering-Brown, S. (University of Manchester) ; Singleton, Andrew B. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Hardy, John (Russell Square House) ; Momeni, Parastoo (Texas Tech University Health Science Center) ; Zhao, Huashuo (Xuzhou Medical University) ; Zeng, Ping (Xuzhou Medical University) ; Universitat Autònoma de Barcelona
We employed Mendelian randomization (MR) to evaluate the causal relationship between leukocyte telomere length (LTL) and amyotrophic lateral sclerosis (ALS) with summary statistics from genome-wide association studies (n = ~ 38,000 for LTL and ~ 81,000 for ALS in the European population; n = ~ 23,000 for LTL and ~ 4,100 for ALS in the Asian population). [...]
2020 - 10.1038/s41598-020-68848-9
Scientific reports, Vol. 10 Núm. 1 (january 2020) , p. 12184  
3.
13 p, 2.4 MB Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage / Chen, Zhongbo (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ; Zhang, David (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ; Reynolds, Regina H. (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ; Gustavsson, Emil K. (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ; García-Ruiz, Sonia (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ; D'Sa, Karishma (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ; Fairbrother-Browne, Aine (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ; Vandrovcova, Jana (UCL Queen Square Institute of Neurology (Regne Unit)) ; Noyce, Alastair J. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Kaiyrzhanov, Rauan (UCL Queen Square Institute of Neurology (Regne Unit)) ; Middlehurst, Ben (Institute of Translational Medicine. University of Liverpool) ; Kia, Demis A. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Tan, Manuela (UCL Queen Square Institute of Neurology (Regne Unit)) ; Morris, Huw R. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Plun-Favreau, Helen (UCL Queen Square Institute of Neurology (Regne Unit)) ; Holmans, Peter (MRC Centre for Neuropsychiatric Genetics & Genomics) ; Trabzuni, Daniah (Department of Genetics. King Faisal Specialist Hospital and Research Centre) ; Bras, Jose (UCL Queen Square Institute of Neurology (Regne Unit)) ; Quinn, John (Institute of Translational Medicine. University of Liverpool) ; Mok, Kin Y. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Kinghorn, Kerri J. (Institute of Healthy Ageing. University College London (UCL)) ; Billingsley, Kimberley (Institute of Translational Medicine. University of Liverpool) ; Wood, Nicholas W.. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Lewis, Patrick (University of Reading) ; Schreglmann, Sebastian (UCL Queen Square Institute of Neurology (Regne Unit)) ; Guerreiro, Rita (UK Dementia Research Institute. University College London (UCL)) ; Lovering, Ruth (Institute of Cardiovascular Science. University College London (UCL)) ; R'Bibo, Lea (UCL Queen Square Institute of Neurology (Regne Unit)) ; Manzoni, Claudia (University of Reading) ; Rizig, Mie (UCL Queen Square Institute of Neurology (Regne Unit)) ; Guelfi, Sebastian (Department of Neurodegenerative Disease. Queen Square Institute of Neurology. University College London (UCL)) ; Escott-Price, Valentina (Cardiff University School of Medicine) ; Chelban, Viorica (UCL Queen Square Institute of Neurology (Regne Unit)) ; Foltynie, Thomas (UCL Queen Square Institute of Neurology (Regne Unit)) ; Williams, Nigel (Cardiff University School of Medicine) ; Brice, Alexis (Institut du Cerveau et de la Moelle épinière (París, França)) ; Danjou, Fabrice (Institut du Cerveau et de la Moelle épinière (París, França)) ; Lesage, Suzanne (Institut du Cerveau et de la Moelle épinière (París, França)) ; Corvol, Jean-Christophe (Institut du Cerveau et de la Moelle épinière (París, França)) ; Martinez Rande, Maria (INSERM UMR 1220 and Paul Sabatier University) ; Schulte, Claudia (German Center for Neurodegenerative Diseases) ; Brockmann, Kathrin (German Center for Neurodegenerative Diseases) ; Simón-Sánchez, Javier (German Center for Neurodegenerative Diseases) ; Heutink, Peter (German Center for Neurodegenerative Diseases) ; Rizzu, Patrizia (German Center for Neurodegenerative Diseases) ; Sharma, Manu (Centre for Genetic Epidemiology. Institute for Clinical Epidemiology and Applied Biometry. University of Tubingen) ; Gasser, Thomas (German Center for Neurodegenerative Diseases) ; Nicolas, Aude (National Institute on Aging (Estats Units d'Amèrica)) ; Cookson, Mark R (National Institute on Aging (Estats Units d'Amèrica)) ; Bandres-Ciga, Sara (National Institute on Aging (Estats Units d'Amèrica)) ; Blauwendraat, Cornelis (National Institute of Neurological Disorders and Stroke) ; Craig, David W (Department of Translational Genomics. Keck School of Medicine. University of Southern California) ; Faghri, Faraz (Department of Computer Science. University of Illinois at Urbana-Champaign) ; Gibbs, J.Raphael (National Institute on Aging (Estats Units d'Amèrica)) ; Hernandez, Dena G. (National Institute on Aging (Estats Units d'Amèrica)) ; Van Keuren-Jensen, Kendall (Neurogenomics Division. TGen) ; Shulman, Joshua M. (Jan and Dan Duncan Neurological Research Institute. Texas Children's Hospital) ; Leonard, Hampton L. (Laboratory of Neurogenetics. National Institute on Aging) ; Nalls, Mike A. (Data Tecnica International) ; Robak, Laurie (Jan and Dan Duncan Neurological Research Institute. Texas Children's Hospital) ; Lubbe, Steven (Ken and Ruth Davee Department of Neurology. Northwestern University Feinberg School of Medicine) ; Finkbeiner, Steven (Taube/Koret Center for Neurodegenerative Disease Research) ; Mencacci, Niccolo E. (Northwestern University Feinberg School of Medicine) ; Lungu, Codrin (National Institutes of Health Division of Clinical Research. NINDS. National Institutes of Health) ; Singleton, Andrew B. (Laboratory of Neurogenetics. National Institute on Aging) ; Scholz, Sonja W. (Neurodegenerative Diseases Research Unit. National Institute of Neurological Disorders and Stroke) ; Reed, Xylena (Laboratory of Neurogenetics. National Institute on Aging) ; Alcalay, Roy N (Taub Institute for Research on Alzheimer's Disease and the Aging Brain. College of Physicians and Surgeons. Columbia University Medical Center) ; Gan-Or, Ziv (McGill University) ; Rouleau, Guy A. (McGill University) ; Krohn, Lynne (McGill University) ; van Hilten, Jacobus J. (Department of Neurology. Leiden University Medical Center) ; Marinus, Johan (Department of Neurology. Leiden University Medical Center) ; Adarmes-Gómez, A.D (Instituto de Biomedicina de Sevilla) ; Aguilar Barberà, Miquel (Fundacio per la Recerca Biomedica i Social Mutua Terrassa) ; Alvarez, Ignacio (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Alvarez, Victoria (Hospital Universitario Central de Asturias) ; Barrero, Francisco Javier (Hospital Universitario San Cecilio (Granada)) ; Bergareche Yarza, Jesús Alberto (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Bernal-Bernal, Inmaculada (Hospital Clínic i Provincial de Barcelona) ; Blázquez Estrada, Marta (Hospital Universitario Central de Asturias) ; Bonilla-Toribio, Marta (Hospital Clínic i Provincial de Barcelona) ; Botía, Juan (Universidad de Murcia. Departamento de Ingeniería de la Información y las Comunicaciones) ; Boungiorno, M. T (Fundacio per la Recerca Biomedica i Social Mutua Terrassa) ; Buiza-Rueda, Dolores (Instituto de Biomedicina de Sevilla) ; Cámara, Ana (Hospital Clínic i Provincial de Barcelona) ; Carrillo, Fátima (Instituto de Biomedicina de Sevilla) ; Carrión-Claro, M (Instituto de Biomedicina de Sevilla) ; Cerdan, Debora (Hospital General de Segovia) ; Clarimón, Jordi (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Compta, Yaroslau (Hospital Clínic i Provincial de Barcelona) ; Diez-Fairen, Monica (Fundacio per la Recerca Biomedica i Social Mutua Terrassa) ; Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ; Duarte, Jacinto (Hospital General de Segovia) ; Duran, Raquel (Centro de Investigacion Biomedica. Universidad de Granada) ; Escamilla-Sevilla, Francisco (Instituto de Investigación Sanitaria de Granada) ; Ezquerra, Mario (Hospital Clínic i Provincial de Barcelona) ; Feliz, Cici (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Fernández, Manel (Hospital Clínic i Provincial de Barcelona) ; Fernández-Santiago, Rubén (Hospital Clínic i Provincial de Barcelona) ; Garcia, Ciara (Hospital Universitario Central de Asturias) ; García-Ruiz, Pedro (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Gómez-Garre, Pilar (Instituto de Biomedicina de Sevilla) ; Gomez Heredia, Maria Jose (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Gonzalez-Aramburu, Isabel (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Gorostidi Pagola, Ana (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Hoenicka, Janet (Institut de Recerca Sant Joan de Déu) ; Infante, Jon (Hospital Universitario Ramón y Cajal (Madrid)) ; Jesús, Silvia (Instituto de Biomedicina de Sevilla) ; Jimenez-Escrig, Adriano (Hospital Universitario Ramón y Cajal (Madrid)) ; Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ; Labrador-Espinosa, Miguel A (Instituto de Biomedicina de Sevilla) ; Lopez-Sendon, Jose Luis (Hospital Universitario Ramón y Cajal (Madrid)) ; López de Munain Arregui, Adolfo (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Macias, Daniel (Instituto de Biomedicina de Sevilla) ; Martínez Torres, Irene (Hospital Universitari i Politècnic La Fe (València)) ; Marín, Juan (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Marti, Maria Jose (Hospital Clínic i Provincial de Barcelona) ; Martínez-Castrillo, Juan Carlos (Hospital Universitario Ramón y Cajal (Madrid)) ; Méndez-del-Barrio, Carlota (Instituto de Biomedicina de Sevilla) ; Menéndez González, Manuel (Hospital Universitario Central de Asturias) ; Mata, Marina (Hospital Universitario Infanta Sofía (San Sebastián de los Reyes)) ; Mínguez, Adolfo (Instituto de Investigación Sanitaria de Granada) ; Mir, Pablo (Instituto de Biomedicina de Sevilla) ; Mondragon Rezola, Elisabet (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Muñoz, Esteban (Instituto de Biomedicina de Sevilla) ; Pagonabarraga Mora, Javier (Institut d'Investigació Biomèdica Sant Pau) ; Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Perez Errazquin, Francisco (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Periñán-Tocino, Teresa (Instituto de Biomedicina de Sevilla) ; Ruiz-Martínez, Javier (Hospital Universitario Donostia. Instituto de Investigación Sanitaria Biodonostia) ; Ruz, Clara (Centro de Investigacion Biomedica. Universidad de Granada) ; Sanchez Rodriguez, Antonio (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Sierra, María (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Suarez-Sanmartin, Esther (Hospital Universitario Central de Asturias) ; Tabernero, Cesar (Hospital General de Segovia) ; Tartari, Juan Pablo (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Tejera-Parrado, Cristina (Instituto de Biomedicina de Sevilla) ; Tolosa, Eduard (Hospital Clínic i Provincial de Barcelona) ; Valldeoriola, Francesc (Hospital Clínic i Provincial de Barcelona) ; Vargas-González, Laura (Instituto de Biomedicina de Sevilla) ; Vela, Lydia (Hospital Universitario Fundación Alcorcón) ; Vives, Francisco (Centro de Investigacion Biomedica. Universidad de Granada) ; Zimprich, Alexander (Department of Neurology. Medical University of Vienna) ; Pihlstrom, Lasse (Oslo University Hospital (Oslo, Noruega)) ; Toft, Mathias (Oslo University Hospital (Oslo, Noruega)) ; Koks, Sulev (Department of Reproductive Biology. Estonian University of Life Sciences) ; Taba, Pille (Department of Neurology and Neurosurgery. University of Tartu) ; Hassin-Baer, Sharon (Sackler Faculty of Medicine. Tel Aviv University) ; Hardy, John (Institute for Advanced Study. The Hong Kong University of Science and Technology. The Hong Kong University of Science and Technology) ; Houlden, Henry (Department of Neuromuscular Disease. Queen Square Institute of Neurology. UCL) ; Gagliano Taliun, Sarah A. (Montréal Heart Institute) ; Botía, Juan (Universidad de Murcia. Departamento de Ingeniería de la Información y las Comunicaciones) ; Ryten, Mina (Great Ormond Street Institute of Child Health (Londres, Regne Unit)) ; Universitat Autònoma de Barcelona
Knowledge of genomic features specific to the human lineage may provide insights into brain-related diseases. We leverage high-depth whole genome sequencing data to generate a combined annotation identifying regions simultaneously depleted for genetic variation (constrained regions) and poorly conserved across primates. [...]
2021 - 10.1038/s41467-021-22262-5
Nature communications, Vol. 12 Núm. 1 (january 2021) , p. 2076  
4.
18 p, 6.7 MB Identification of sixteen novel candidate genes for late onset Parkinson's disease / Gialluisi, Alessandro (IRCCS Istituto Neurologico Mediterraneo Neuromed) ; Reccia, Mafalda Giovanna (IRCCS Istituto Neurologico Mediterraneo Neuromed) ; Modugno, Nicola (IRCCS Istituto Neurologico Mediterraneo Neuromed) ; Nutile, Teresa (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ; Lombardi, Alessia (IRCCS Istituto Neurologico Mediterraneo Neuromed) ; Di Giovannantonio, Luca Giovanni (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ; Pietracupa, Sara (IRCCS Istituto Neurologico Mediterraneo Neuromed) ; Ruggiero, Daniela (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ; Scala, Simona (IRCCS Istituto Neurologico Mediterraneo Neuromed) ; Gambardella, Stefano (Department of Biomolecular Science. University of Urbino Carlo Bò) ; Noyce, Alastair J. ; Kaiyrzhanov, Rauan ; Middlehurst, Ben ; Kia, Demis A. ; Tan, Manuela ; Houlden, Henry ; Morris, Huw R. ; Plun-Favreau, Helen ; Holmans, Peter ; Hardy, John ; Trabzuni, Daniah ; Quinn, John ; Bubb, Vivien ; Mok, Kin Y. ; Kinghorn, Kerri J. ; Billingsley, Kimberley ; Wood, Nicholas W.. ; Lewis, Patrick ; Schreglmann, Sebastian ; Lovering, Rruth ; R'Bibo, Lea ; Manzoni, Claudia ; Rizig, Mie ; Ryten, Mina ; Guelfi, Sebastian ; Escott-Price, Valentina ; Chelban, Viorica ; Foltynie, Thomas ; Williams, Nigel ; Morrison, Karen E. ; Clarke, Carl ; Brice, Alexis ; Danjou, Fabrice ; Lesage, Suzanne ; Corvol, Jean-Christophe ; Martinez Rande, Maria (INSERM UMR 1220) ; Schulte, Claudia ; Brockmann, Kathrin ; Simón-Sánchez, Javier ; Heutink, Peter ; Rizzu, Patrizia ; Sharma, Manu ; Gasser, Thomas ; Cookson, Mark R. ; Bandres-Ciga, Sara ; Blauwendraat, Cornelis ; Craig, David W. ; Narendra, Derek ; Faghri, Faraz ; Gibbs, J.Raphael ; Hernandez, Dena G. ; Van Keuren-Jensen, Kendall ; Shulman, Joshua M. ; Iwaki, Hirotaka ; Leonard, Hampton L. ; Nalls, Mike A. ; Robak, Laurie ; Bras, Jose ; Guerreiro, Rita ; Lubbe, Steven ; Finkbeiner, Steven ; Mencacci, Niccolo E. ; Lungu, Codrin ; Singleton, Andrew B. ; Scholz, Sonja W. ; Reed, Xylena ; Alcalay, Roy N. ; Gan-Or, Zin ; Rouleau, Guy A. ; Krohn, Lynne ; van Hilten, Jacobus J. ; Marinus, Johan ; Adarmes-Gómez, A.D ; Aguilar Barberà, Miquel ; Alvarez, Ignacio (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Alvarez, Victoria ; Barrero, Francisco Javier ; Bergareche Yarza, Jesús Alberto ; Bernal-Bernal, Inmaculada ; Blázquez Estrada, Marta ; Bonilla-Toribio, Marta ; Botía, Juan A. ; Boungiorno, María Teresa ; Buiza-Rueda, Dolores ; Carrillo, Fátima ; Carrión-Claro, M ; Cerdan, Debora ; Clarimón, Jordi ; Compta, Yaroslau ; Diez-Fairen, Monica ; Dols Icardo, Oriol ; Duarte, Jacinto ; Duran, Raquel ; Escamilla Sevilla, Francisco ; Ezquerra, Mario ; Feliz, Cici ; Fernández, Manel ; Fernández-Santiago, Rubén ; Garcia, Ciara ; García-Ruiz, Pedro ; Gómez-Garre, Pilar ; Gomez Heredia, Maria Jose ; Gonzalez-Aramburu, Isabel ; Gorostidi Pagola, Ana ; Hoenicka, Janet ; Infante, Jon ; Jesús, Silvia ; Jiménez-Escrig, Adriano (Hospital General de Segovia) ; Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ; Labrador-Espinosa, Miguel A. ; Lopez-Sendon, Jose Luis ; López de Munain Arregui, Adolfo ; Macias, Daniel ; Martínez Torres, Irene ; Marín, Juan ; Marti, Maria Jose ; Martínez-Castrillo, Juan Carlos ; Méndez-del-Barrio, Carlota ; Menéndez González, Manuel ; Mata, Marina ; Mínguez, Adolfo ; Mir, Pablo ; Mondragon Rezola, Elisabet ; Muñoz, Esteban ; Pagonabarraga Mora, Javier (Institut d'Investigació Biomèdica Sant Pau) ; Pastor, Pau ; Perez Errazquin, Francisco ; Periñán-Tocino, Teresa ; Ruiz-Martínez, Javier ; Ruz, Clara ; Sanchez Rodriguez, Antonio ; Sierra, María ; Suarez-Sanmartin, Esther ; Tabernero, Cesar ; Tartari, Juan Pablo ; Tejera-Parrado, Cristina ; Tolosa, Eduard ; Valldeoriola, Francesc ; Vargas-González, Laura ; Vela, Lydia ; Vives, Francisco ; Zimprich, Alexander ; Pihlstrom, Lasse ; Toft, Mathias ; Koks, Sulev ; Taba, Pille ; Hassin-Baer, Sharon ; Majamaa, Kari ; Siitonen, Ari ; Okubadejo, Njideka U. ; Ojo, Oluwadamilola O. ; Kaiyrzhanov, Rauan ; Shashkin, Chingiz ; Zharkynbekova, Nazira ; Akhmetzhanov, Vadim ; Aitkulova, Akbota ; Zholdybayeva, Elena ; Zharmukhanov, Zharkyn ; Kaishybayeva, Gulnaz ; Karimova, Altynay ; Sadykova, Dinara ; Iacoviello, Licia (University of Insubria (Itàlia)) ; Gianfrancesco, F. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ; Acampora, D. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ; D'Esposito, M. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ; Simeone, A. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ; Ciullo, M. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ; Esposito, T. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso")
Background: Parkinson's disease (PD) is a neurodegenerative movement disorder affecting 1-5% of the general population for which neither effective cure nor early diagnostic tools are available that could tackle the pathology in the early phase. [...]
2021 - 10.1186/s13024-021-00455-2
Molecular neurodegeneration, Vol. 16 Núm. 1 (december 2021) , p. 35  
5.
14 p, 1.2 MB Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome / Storm, Catherine S. (University College London) ; Kia, Demis A. (University College London) ; Almramhi, Mona M. (King Abdulaziz University) ; Bandres-Ciga, Sara (National Institute on Aging (Estats Units d'Amèrica)) ; Finan, Chris (University Medical Center Utrecht) ; Noyce, A. J. (UCL Institute of Neurology (Regne Unit)) ; Kaiyrzhanov, R. (UCL Institute of Neurology (Regne Unit)) ; Middlehurst, B. (University of Liverpool) ; Tan, M. (University College London) ; Houlden, Henry (UCL Institute of Neurology (Regne Unit)) ; Morris, H. R. (University College London) ; Plun-Favreau, H. (UCL Institute of Neurology (Regne Unit)) ; Holmans, Peter (MRC Centre for Neuropsychiatric Genetics & Genomics) ; Hardy, J. (UCL Institute of Neurology (Regne Unit)) ; Trabzuni, D. (UCL Institute of Neurology (Regne Unit)) ; Quinn, J. (Institute of Translational Medicine. University of Liverpool) ; Bubb, Vivien (Institute of Translational Medicine. University of Liverpool) ; Mok, K. Y. (UCL Institute of Neurology (Regne Unit)) ; Kinghorn, K. J. (University College London) ; Lewis, P. (University of Reading) ; Schreglmann, S. R. (UCL Institute of Neurology (Regne Unit)) ; Lovering, R. (University College London) ; R'Bibo, L. (UCL Institute of Neurology (Regne Unit)) ; Manzoni, C. (University of Reading) ; Rizig, M. (UCL Institute of Neurology (Regne Unit)) ; Ryten, Mina (UCL Institute of Neurology (Regne Unit)) ; Guelfi, S. (UCL Institute of Neurology (Regne Unit)) ; Escott-Price, Valentina (MRC Centre for Neuropsychiatric Genetics and Genomics. Cardiff University School of Medicine) ; Chelban, Viorica (UCL Institute of Neurology (Regne Unit)) ; Foltynie, T. (UCL Institute of Neurology (Regne Unit)) ; Williams, N. (MRC Centre for Neuropsychiatric Genetics and Genomics) ; Morrison, K. E. (Faculty of Medicine. University of Southampton) ; Clarke, C. (Sandwell and West Birmingham Hospitals NHS Trust) ; Harvey, K. (UCL School of Pharmacy) ; Jacobs, B. M. (Wolfson Institute of Preventive Medicine. QMUL) ; Brice, Alexis (Sorbonne Université) ; Danjou, Fabrice (Sorbonne Université) ; Lesage, S. (Sorbonne Universités) ; Corvol, Jean-Christophe (Sorbonne Universités) ; Martinez, M. (Paul Sabatier University) ; Schulte, C. (DZNE. German Center for Neurodegenerative Diseases) ; Brockmann, Kathrin (DZNE. German Center for Neurodegenerative Diseases) ; Simón-Sánchez, J. (DZNE. German Center for Neurodegenerative Diseases) ; Heutink, Peter (University of Tübingen) ; Rizzu, P. (DZNE. German Center for Neurodegenerative Diseases) ; Sharma, M. (University of Tubingen) ; Gasser, T. (DZNE. German Center for Neurodegenerative Diseases) ; Schneider, S. A. (udwig-Maximilians-University Munich) ; Cookson, Mark R (Laboratory of Neurogenetics. National Institute on Aging) ; Blauwendraat, Cornelis (Laboratory of Neurogenetics. National Institute on Aging) ; Craig, David W (University of Southern California) ; Billingsley, K. (National Institute on Aging (Estats Units d'Amèrica)) ; Makarious, M. B. (National Institute on Aging (Estats Units d'Amèrica)) ; Narendra, D. P. (National Institute of Neurological Disorders and Stroke) ; Faghri, F. (University of Illinois at Urbana-Champaign) ; Gibbs, J. R. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Hernandez, D. G. (National Institute on Aging (Estats Units d'Amèrica)) ; Van Keuren-Jensen, K. (Neurogenomics Division. TGen) ; Shulman, J. M. (Texas Children's Hospital) ; Iwaki, H. (Laboratory of Neurogenetics. National Institute on Aging) ; Leonard, H. L. (Laboratory of Neurogenetics. National Institute on Aging) ; Nalls, M. A. (CEO/Consultant Data Tecnica International) ; Robak, L. (Baylor College of Medicine) ; Bras, Jose (Van Andel Research Institute) ; Guerreiro, Rita (Van Andel Research Institute) ; Lubbe, S. (Northwestern University Feinberg School of Medicine) ; Troycoco, T. (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ; Finkbeiner, S. (Taube/Koret Center for Neurodegenerative Disease Research) ; Mencacci, N. E. (Northwestern University Feinberg School of Medicine) ; Lungu, C. (National Institutes of Health Division of Clinical Research. NINDS. National Institutes of Health) ; Singleton, A. B. (Laboratory of Neurogenetics. National Institute on Aging) ; Scholz, S. W. (National Institute of Neurological Disorders and Stroke) ; Reed, X. (Laboratory of Neurogenetics. National Institute on Aging) ; Uitti, R. J. (Mayo Clinic) ; Ross, O. A. (Mayo Clinic) ; Grenn, F. P. (National Institute on Aging (Estats Units d'Amèrica)) ; Moore, A. (National Institute on Aging (Estats Units d'Amèrica)) ; Alcalay, Roy N (Columbia University Medical Center) ; Wszolek, Z. K. (Mayo Clinic) ; Gan-Or, Z. (McGill University) ; Rouleau, G. A. (McGill University) ; Krohn, L. (McGill University) ; Mufti, K. (McGill University) ; van Hilten, J. J. (Leiden University Medical Center) ; Marinus, J. (Leiden University Medical Center) ; Adarmes-Gómez, A.D (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Aguilar Barberà, Miquel (Mútua de Terrassa) ; Alvarez, Ignacio (Mútua de Terrassa) ; Alvarez, Victoria (Hospital Universitario Central de Asturias) ; Barrero, F. J. (Universidad de Granada) ; Yarza, J. A. B. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Bernal-Bernal, I. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Blázquez Estrada, Marta (Hospital Universitario Central de Asturias) ; Bonilla-Toribio, Marta (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Botía, J. A. (Universidad de Murcia) ; Boungiorno, M. T. (Mútua de Terrassa) ; Buiza-Rueda, Dolores (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Cámara, Ana (Hospital Clínic i Provincial de Barcelona) ; Carrillo, F. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Carrión-Claro, M. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Cerdan, Debora (Hospital General de Segovia) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Compta, Yaroslau (Hospital Clínic i Provincial de Barcelona) ; Diez-Fairen, M. (Mútua de Terrassa) ; Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ; Duarte, Jacinto (Hospital General de Segovia) ; Duran, Raquel (Universidad de Granada) ; Escamilla-Sevilla, Francisco (Instituto de Investigación Sanitaria de Granada) ; Ezquerra, Mario (Hospital Clínic i Provincial de Barcelona) ; Feliz, Cici (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Fernández, Manel (Hospital Clínic i Provincial de Barcelona) ; Fernández-Santiago, Rubén (Hospital Clínic i Provincial de Barcelona) ; Garcia, C.. (Hospital Universitario Central de Asturias) ; García-Ruiz, Pedro (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Gómez-Garre, P. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Gomez Heredia, Maria Jose (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Gonzalez-Aramburu, Isabel (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Pagola, A. G. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Hoenicka, Janet (Institut de Recerca Sant Joan de Déu) ; Infante, Jon (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ; Jesús, S. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Jiménez-Escrig, Adriano (Hospital Universitario Ramón y Cajal (Madrid)) ; Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ; Labrador-Espinosa, Miguel A (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Lopez-Sendon, Jose Luis (Hospital Universitario Ramón y Cajal (Madrid)) ; de Munain Arregui, A. L. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Macías-García, Daniel (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Torres, I. M. (Hospital Universitari i Politècnic La Fe (València)) ; Marín, Juan (Institut d'Investigació Biomèdica Sant Pau) ; Marti, Maria Jose (Hospital Clínic i Provincial de Barcelona) ; Martínez-Castrillo, Juan Carlos (Instituto Ramón y Cajal de Investigación Sanitaria (Madrid)) ; Méndez-del-Barrio, C. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; González, M. M. (Hospital Universitario Central de Asturias) ; Mata, Marina (Hospital Universitario Virgen de las Nieves (Granada)) ; Mínguez, A. (Hospital Universitario Virgen de las Nieves (Granada)) ; Mir, P. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Rezola, E. M. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Muñoz, Esteban (Hospital Clínic i Provincial de Barcelona) ; Pagonabarraga Mora, Javier (Hospital Universitario Infanta Sofía (San Sebastián de los Reyes)) ; Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Perez-Errazquin, Francisco (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Periñán-Tocino, T. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Ruiz-Martínez, J. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Ruz, Clara (Universidad de Granada) ; Rodriguez, A. S. (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Sierra, Maria (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Suarez-Sanmartin, E. (Hospital Universitario Central de Asturias) ; Tabernero, Cesar (Hospital General de Segovia) ; Tartari, J. P. (Mútua de Terrassa) ; Tejera-Parrado, C. (v) ; Tolosa, Eduard (Hospital Clínic i Provincial de Barcelona) ; Valldeoriola, Francesc (Hospital Clínic i Provincial de Barcelona) ; Vargas-González, L. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Vela, Lydia (Hospital Universitario Fundación Alcorcón) ; Vives, Francisco (Universidad de Granada) ; Zimprich, Alexander (Medical University of Vienna) ; Pihlstrom, L. (Oslo University Hospital (Oslo)) ; Toft, M. (Oslo University Hospital (Oslo, Noruega)) ; Taba, P. (University of Tartu) ; Koks, S. (The Perron Institute for Neurological and Translational Science) ; Hassin-Baer, S. (Sackler Faculty of Medicine. Tel Aviv University) ; Majamaa, K. (Oulu University Hospital (Finlàndia)) ; Siitonen, A. (Oulu University Hospital (Finlàndia)) ; Tienari, P. (Helsinki University Hospital (Finlàndia)) ; Okubadejo, N. U. (University of Lagos) ; Ojo, O. O. (University of Lagos) ; Shashkin, C. (Kazakh National Medical University named after Asfendiyarov) ; Zharkinbekova, N. (South Kazakhstan Medical Academy) ; Akhmetzhanov, V. (Astana Medical University) ; Kaishybayeva, G. (Scientific and Practical Center "Institute of Neurology named after Smagul Kaishibayev") ; Karimova, A. (Scientific and Practical Center "Institute of Neurology named after Smagul Kaishibayev") ; Khaibullin, T. (Semey Medical University) ; Lynch, T. L. (The Dublin Neurological Institute at the Mater Misericordiae University Hospital) ; Hingorani, Aroon (Health Data Research UK) ; Wood, Nicholas W.. (University College London) ; Universitat Autònoma de Barcelona
Parkinson's disease is a neurodegenerative movement disorder that currently has no disease-modifying treatment, partly owing to inefficiencies in drug target identification and validation. We use Mendelian randomization to investigate over 3,000 genes that encode druggable proteins and predict their efficacy as drug targets for Parkinson's disease. [...]
2021 - 10.1038/s41467-021-26280-1
Nature communications, Vol. 12 Núm. 1 (december 2021) , p. 7342  
6.
9 p, 1.2 MB Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset / Billingsley, K. J. (National Institute on Aging (Estats Units d'Amèrica)) ; Barbosa, I. A. (King's College London) ; Bandres-Ciga, Sara (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Quinn, J. P. ; Bubb, Vivien ; Deshpande, Charulata (Clinical Genetics Unit. Guys and St. Thomas' NHS Foundation Trust) ; Botia, J. A. (Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Reynolds, Regina H (Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Zhang, D. (Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Simpson, M. A. (King's College London) ; Blauwendraat, Cornelis (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Gan-Or, Z. (Department of Human Genetics. McGill University) ; Gibbs, J. R. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Nalls, M. A. (Data Tecnica International) ; Singleton, A. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Noyce, A. (Preventive Neurology Unit. Wolfson Institute of Preventive Medicine. QMUL) ; Tucci, A. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Middlehurst, B. ; Kia, Demis A (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Tan, M. (Department of Clinical Neuroscience. University College London) ; Houlden, Henry (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Morris, H. R. (Department of Clinical Neuroscience. University College London) ; Plun-Favreau, H. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Holmans, Peter (MRC Centre for Neuropsychiatric Genetics & Genomics) ; Hardy, J. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Trabzuni, D. (Department of Genetics. King Faisal Specialist Hospital and Research Centre) ; Bras, Jose (UCL Institute of Neurology (Regne Unit). UK Dementia Research Institute) ; Mok, K. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Kinghorn, K. (Institute of Healthy Ageing. University College London) ; Wood, N. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Lewis, P. (University of Reading) ; Guerreiro, Rita (UCL Institute of Neurology (Regne Unit). UK Dementia Research Institute) ; Lovering, R. (University College London) ; R'Bibo, L. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Rizig, M. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Escott-Price, Valentina (Cardiff University School of Medicine) ; Chelban, Viorica (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Foltynie, T. (Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Williams, N. (Cardiff University School of Medicine) ; Brice, Alexis (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, Fabrice (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, Kathrin (DZNE. German Center for Neurodegenerative Diseases) ; Simón-Sánchez, J. (DZNE. German Center for Neurodegenerative Diseases) ; Heutink, Peter (DZNE. German Center for Neurodegenerative Diseases) ; Rizzu, P. (DZNE. German Center for Neurodegenerative Diseases) ; Sharma, M. (Centre for Genetic Epidemiology. Institute for Clinical Epidemiology and Applied Biometry. University of Tubingen) ; Gasser, Thomas (DZNE. German Center for Neurodegenerative Diseases) ; Nicolas, A. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Cookson, Mark R (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Faghri, F. (Department of Computer Science. University of Illinois at Urbana-Champaign) ; Hernández, Dena (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Shulman, J. (Jan and Dan Duncan Neurological Research Institute. Texas Children's Hospital) ; Robak, L. (Baylor College of Medicine) ; Lubbe, S. (Ken and Ruth Davee Department of Neurology. Northwestern University Feinberg School of Medicine) ; Finkbeiner, S. (Taube/Koret Center for Neurodegenerative Disease Research) ; Mencacci, N. (Northwestern University Feinberg School of Medicine) ; Lungu, C. (National Institutes of Health Division of Clinical Research. NINDS. National Institutes of Health) ; Scholz, S. (Neurodegenerative Diseases Research Unit. National Institute of Neurological Disorders and Stroke) ; Reed, X. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Leonard, H. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Rouleau, G. (Montreal Neurological Institute. McGill University) ; Krohan, L. (Department of Human Genetics. McGill University) ; van Hilten, J. (Department of Neurology. Leiden University Medical Center) ; Marinus, J. (Department of Neurology. Leiden University Medical Center) ; Adarmes-Gómez, A.D (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Aguilar Barberà, Miquel (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Alvarez, Ignacio (Mútua de Terrassa) ; Alvarez, Victoria (Hospital Universitario Central de Asturias) ; Javier Barrero, F. (Hospital Universitario Parque Tecnologico de la Salud) ; Bergareche Yarza, J. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Bernal-Bernal, I. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Blázquez Estrada, Marta (Hospital Universitario Central de Asturias) ; Bernal, M. B. T. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Boungiorno, M. T (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Buiza-Rueda, Dolores (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Cámara, Ana (Hospital Clínic i Provincial de Barcelona) ; Carcel, M. (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Carrillo, F. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Carrión-Claro, M. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Cerdan, Debora (Hospital General de Segovia) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Compta, Yaroslau (Hospital Clínic i Provincial de Barcelona) ; Diez-Fairen, Monica. (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Dols Icardo, Oriol (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Duarte, J. (Hospital General de Segovia) ; Duran, Raquel (Centro de Investigacion Biomedica. Universidad de Granada) ; Escamilla-Sevilla, F. (Instituto de Investigación Sanitaria de Granada) ; Ezquerra, Mario (Hospital Clínic i Provincial de Barcelona) ; Fernández, M. (Hospital Clínic i Provincial de Barcelona) ; Fernández-Santiago, Rubén (Hospital Clínic i Provincial de Barcelona) ; Garcia, C.. (Hospital Universitario Central de Asturias) ; García-Ruiz, P. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Gómez-Garre, P. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Heredia, M. G. (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Gonzalez-Aramburu, Isabel (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Pagola, A. G. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Hoenicka, J. (Institut de Recerca Sant Joan de Déu) ; Infante, J. (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Jesús, S. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Jiménez-Escrig, Adriano (Hospital Universitario Ramón y Cajal (Madrid)) ; Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ; Labrador-Espinosa, Miguel A (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Lopez-Sendon, J. (Hospital Universitario Ramón y Cajal (Madrid)) ; de Munain Arregui, A. L. (Hospital Universitario Ramón y Cajal (Madrid)) ; Macías-García, Daniel (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Torres, I. M. (Hospital Universitari i Politècnic La Fe (València)) ; Marín, J. (Institut d'Investigació Biomèdica Sant Pau) ; Marti, M. J. (Hospital Clínic i Provincial de Barcelona) ; Martínez-Castrillo, J. (Hospital Universitario Ramón y Cajal (Madrid)) ; Méndez-del-Barrio, C. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Menéndez González, M. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Mínguez, A. (Instituto de Investigación Sanitaria de Granada) ; Mir, P. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Rezola, E. M. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Muñoz García, José Esteban (Hospital Clínic i Provincial de Barcelona) ; Pagonabarraga Mora, Javier (Institut d'Investigació Biomèdica Sant Pau) ; Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Errazquin, F. P. (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Periñán-Tocino, T. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Ruiz-Martínez, J. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Ruz, C. (Centro de Investigacion Biomedica. Universidad de Granada) ; Rodriguez, A. S. (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Sierra, M. (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Suarez-Sanmartin, E. (Clinical Genetics Unit. Guys and St. Thomas' NHS Foundation Trust) ; Tabernero, C. (Hospital Universitario Ramón y Cajal (Madrid)) ; Tartari, J. P. (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Tejera-Parrado, C. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Tolosa, E. (Hospital Clínic i Provincial de Barcelona) ; Valldeoriola, F. (Hospital Clínic i Provincial de Barcelona) ; Vargas-González, L. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Vela, Lydia (Hospital Universitario Fundación Alcorcón) ; Vives, F. (Centro de Investigacion Biomedica. Universidad de Granada) ; Zimprich, Alexander (Department of Neurology. Medical University of Vienna) ; Pihlstrom, L. (Oslo University Hospital (Oslo, Noruega)) ; Taba, P. (Department of Neurology and Neurosurgery. University of Tartu) ; Majamaa, K. (Oulu University Hospital (Finlàndia)) ; Siitonen, A. (Institute of Clinical Medicine. Department of Neurology. University of Oulu) ; Okubadejo, N. (University of Lagos) ; Ojo, O. (University of Lagos) ; Ryten, Mina (Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Koks, S. (Centre for Comparative Genomics. Murdoch University) ; Universitat Autònoma de Barcelona
Mitochondrial dysfunction has been implicated in the etiology of monogenic Parkinson's disease (PD). Yet the role that mitochondrial processes play in the most common form of the disease; sporadic PD, is yet to be fully established. [...]
2019 - 10.1038/s41531-019-0080-x
NPJ Parkinson's disease, Vol. 5 Núm. 1 (january 2019) , p. 8  
7.
10 p, 1.3 MB Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia / Bonham, Luke W. (University of California, San Francisco (UCSF)) ; Steele, Natasha Z. R. (University of California, San Francisco (UCSF)) ; Karch, Celeste M. (Department of Psychiatry. Washington University) ; Broce, Iris (University of California, San Francisco (UCSF)) ; Geier, Ethan G. (University of California, San Francisco (UCSF)) ; Wen, Natalie L. (Department of Psychiatry. Washington University) ; Momeni, Parastoo (Texas Tech University Health Science Center. Laboratory of Neurogenetics) ; Hardy, John (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Miller, Zachary A. (University of California, San Francisco (UCSF)) ; Gorno-Tempini, Maria Luisa (University of California, San Francisco (UCSF)) ; Hess, Christopher P. (University of California, San Francisco (UCSF)) ; Lewis, Patrick (School of Pharmacy. University of Reading. Whiteknights) ; Miller, Bruce L. (University of California, San Francisco (UCSF)) ; Seeley, William W. (University of California, San Francisco (UCSF)) ; Manzoni, Claudia (School of Pharmacy. University of Reading. Whiteknights) ; Desikan, Rahul S. (University of California, San Francisco (UCSF)) ; Baranzini, Sergio E. (University of California, San Francisco (UCSF)) ; Ferrari, Raffaele (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Yokoyama, Jennifer S. (University of California, San Francisco (UCSF)) ; Hernandez, D. G. (UCL Institute of Neurology (Regne Unit)) ; Nalls, M. A. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Rohrer, J. D. (Dementia Research Centre. Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Ramasamy, Adaikalavan (The Jenner Institute. University of Oxford) ; Kwok, J. B. J. (School of Medical Sciences. University of New South Wales) ; Dobson-Stone, Carol (School of Medical Sciences. University of New South Wales) ; Schofield, P. R. (School of Medical Sciences. University of New South Wales) ; Halliday, G. M. (School of Medical Sciences. University of New South Wales) ; Hodges, J. R. (School of Medical Sciences. University of New South Wales) ; Piguet, O. (School of Medical Sciences. University of New South Wales) ; Bartley, L. (School of Medical Sciences. University of New South Wales) ; Thompson, E. (Department of Paediatrics. University of Adelaide) ; Haan, E. (Department of Paediatrics. University of Adelaide) ; Hernández, Isabel (Institut Català de Neurociènces Aplicades) ; Ruiz, A. (Institut Català de Neurociènces Aplicades) ; Boada, Mercè (Institut Català de Neurociènces Aplicades) ; Borroni, Barbara (Neurology Clinic. University of Brescia) ; Padovani, Alessandro (Neurology Clinic. University of Brescia) ; Cruchaga, Carlos (Hope Center. Washington University School of Medicine) ; Cairns, Nigel J (Department of Pathology and Immunology. Washington University) ; Benussi, Luisa (Molecular Markers Laboratory. IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Binetti, Giuliano (MAC Memory Clinic. IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Ghidoni, R. (Molecular Markers Laboratory. IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Forloni, G. (Biology of Neurodegenerative Disorders. IRCCS Istituto di Ricerche Farmacologiche "Mario Negri") ; Albani, Diego (Biology of Neurodegenerative Disorders. IRCCS Istituto di Ricerche Farmacologiche "Mario Negri") ; Galimberti, Daniela (Fondazione Cà Granda. IRCCS Ospedale Maggiore Policlinico) ; Fenoglio, Chiara (Fondazione Cà Granda. IRCCS Ospedale Maggiore Policlinico) ; Serpente, M. (Fondazione Cà Granda. IRCCS Ospedale Maggiore Policlinico) ; Scarpini, E. (Fondazione Cà Granda. IRCCS Ospedale Maggiore Policlinico) ; Clarimón, Jordi (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Lleó, Alberto (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Blesa, Rafael (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Landqvist Waldö, M. (Unit of Geriatric Psychiatry. Department of Clinical Sciences. Lund University) ; Nilsson, K. (Unit of Geriatric Psychiatry. Department of Clinical Sciences. Lund University) ; Nilsson, C. (Clinical Memory Research Unit. Department of Clinical Sciences. Lund University) ; Mackenzie, I. R. A. (Department of Pathology and Laboratory Medicine. University of British Columbia) ; Hsiung, G. Y. R. (Division of Neurology. University of British Columbia) ; Mann, D. M. A. (Institute of Brain. Behaviour and Mental Health. University of Manchester. Salford Royal Hospital) ; Grafman, J. (Department of Psychology. Weinberg College of Arts and Sciences. Northwestern University) ; Morris, C. M. (Newcastle University. Institute of Neuroscience and Institute for Ageing) ; Attems, Johannes (Newcastle University. Institute of Neuroscience and Institute for Ageing) ; Griffiths, T. D. (Newcastle University. Institute of Neuroscience and Institute for Ageing) ; McKeith, I. G. (Newcastle University. Institute of Neuroscience and Institute for Ageing) ; Thomas, A. J. (Newcastle University. Institute of Neuroscience and Institute for Ageing) ; Pietrini, P. (IMT School for Advanced Studies. Lucca) ; Huey, Edward D (Taub Institute. Departments of Psychiatry and Neurology. Columbia University) ; Wassermann, E. M. (Behavioral Neurology Unit. National Insititute of Neurological Disorders and Stroke. National Insititutes of Health) ; Baborie, A. (Department of Laboratory Medicine & Pathology. University of Alberta Edmonton) ; Jaros, E. (Institute of Neuroscience and Institute for Ageing. Campus for Ageing and Vitality. Newcastle University) ; Tierney, M. C. (Behavioral Neurology Unit. National Insititute of Neurological Disorders and Stroke. National Insititutes of Health) ; Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Razquin, C. (Neurogenetics Laboratory. Division of Neurosciences. Center for Applied Medical Research. Universidad de Navarra) ; Ortega-Cubero, S. (Neurogenetics Laboratory. Division of Neurosciences. Center for Applied Medical Research. Universidad de Navarra) ; Alonso, E. (Clínica Universidad de Navarra) ; Perneczky, Robert (Department of Psychiatry and Psychotherapy. Technische Universität München) ; Diehl-Schmid, Janine (Department of Psychiatry and Psychotherapy. Technische Universität München) ; Alexopoulos, Panagiotis (Department of Psychiatry and Psychotherapy. Technische Universität München) ; Kurz, A. (Department of Psychiatry and Psychotherapy. Technische Universität München) ; Rainero, Innocenzo (Neurology I. Department of Neuroscience. University of Torino. Italy. A.O. Città della Salute e della Scienza di Torino) ; Rubino, E. (Neurology I. Department of Neuroscience. University of Torino. Italy. A.O. Città della Salute e della Scienza di Torino) ; Pinessi, L. (Neurology I. Department of Neuroscience. University of Torino. Italy. A.O. Città della Salute e della Scienza di Torino) ; Rogaeva, Ekaterina (University of Toronto. Tanz Centre for Research in Neurodegenerative Diseases) ; St George Hyslop, Peter (Cambridge Institute for Medical Research) ; Rossi, G. (Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Tagliavini, Fabrizio (Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Giaccone, Giorgio (Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Rowe, J. B. (Behavioural and Clinical Neuroscience Institute) ; Schlachetzki, J. C. M. (University of California San Diego. Department of Cellular & Molecular Medicine) ; Uphill, J. (UCL Institute of Neurology (Regne Unit). Department of Neurodegenerative Disease) ; Collinge, John (UCL Institute of Neurology (Regne Unit). Department of Neurodegenerative Disease) ; Mead, S. (UCL Institute of Neurology (Regne Unit). Department of Neurodegenerative Disease) ; Danek, Adrian (Ludwig-Maximilians-Universität München) ; Van Deerlin, V. M. (University of Pennsylvania Perelman School of Medicine) ; Grossman, Murray (Department of Neurology and Penn Frontotemporal Degeneration Center. University of Pennsylvania Perelman School of Medicine) ; Trojanowski, J. Q. (Laboratory of Neurogenetics. Institute Born-Bunge. University of Antwerp) ; Van der Zee, Julie (Laboratory of Neurogenetics. Institute Born-Bunge. University of Antwerp) ; Cruts, Marc (Laboratory of Neurogenetics. Institute Born-Bunge. University of Antwerp) ; Van Broeckhoven, C. (Laboratory of Neurogenetics. Institute Born-Bunge. University of Antwerp) ; Cappa, S. F. (Neurorehabilitation Unit. Department of Clinical Neuroscience. Vita-Salute University and San Raffaele Scientific Institute) ; Leber, Isabelle (CNRS UMR 7225. F-75013) ; Hannequin, D. (Service de Neurologie. Inserm U1079. CNR-MAJ. Rouen University Hospital) ; Golfier, V. (Service de Neurologie. CH Saint Brieuc) ; Vercelletto, M. (Service de neurologie. CHU de Nantes) ; Brice, Alexis (CNRS UMR 7225. F-75013) ; Nacmias, Benedetta (University of Florence. Department of Neurosciences) ; Sorbi, Sandro (University of Florence. Department of Neurosciences) ; Bagnoli, Silvia (University of Florence. Department of Neurosciences) ; Piaceri, I. (University of Florence. Department of Neurosciences) ; Nielsen, J. E. (Department of Cellular and Molecular Medicine. Section of Neurogenetics. The Panum Institute. University of Copenhagen) ; Hjermind, L. E. (Department of Cellular and Molecular Medicine. Section of Neurogenetics. The Panum Institute. University of Copenhagen) ; Riemenschneider, M. (Laboratory for Neurogenetics. Saarland University) ; Mayhaus, M. (Laboratory for Neurogenetics. Saarland University) ; Ibach, B. (Department of Psychiatry. Psychotherapy and Psychosomatics) ; Gasparoni, G. (Laboratory for Neurogenetics. Saarland University) ; Pichler, S. (Laboratory for Neurogenetics. Saarland University) ; Gu, W. (Luxembourg Centre For Systems Biomedicine (LCSB). University of Luxembourg) ; Rossor, M. N. (Dementia Research Centre. Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Fox, N. C. (Dementia Research Centre. Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Warren, J. D. (Dementia Research Centre. Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Spillantini, M. G. (University of Cambridge. Department of Clinical Neurosciences) ; Morris, H. R. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Rizzu, P. (Tübingen Site. German Center for Neurodegenerative Diseases) ; Heutink, Peter (Tübingen Site. German Center for Neurodegenerative Diseases) ; Snowden, J. S. (Institute of Brain. Behaviour and Mental Health. University of Manchester. Salford Royal Hospital) ; Rollinson, Sara (Institute of Brain. Behaviour and Mental Health. University of Manchester. Salford Royal Hospital) ; Richardson, A. (Salford Royal Foundation Trust. Faculty of Medical and Human Sciences. University of Manchester) ; Gerhard, A. (Institute of Brain. Behaviour and Mental Health. University of Manchester. Salford Royal Hospital) ; Bruni, A. C. (Regional Neurogenetic Centre. ASPCZ) ; Maletta, Raffaele (Regional Neurogenetic Centre. ASPCZ) ; Frangipane, F. (Regional Neurogenetic Centre. ASPCZ) ; Cupidi, C. (Regional Neurogenetic Centre. ASPCZ) ; Bernardi, Livia (Regional Neurogenetic Centre. ASPCZ) ; Anfossi, Maria (Regional Neurogenetic Centre. ASPCZ) ; Gallo, M. (Regional Neurogenetic Centre. ASPCZ) ; Conidi, Maria E. (Regional Neurogenetic Centre. ASPCZ) ; Smirne, N. (Regional Neurogenetic Centre. ASPCZ) ; Rademakers, Rosa (Department of Neuroscience. Mayo Clinic Jacksonville) ; Baker, M. (Department of Neuroscience. Mayo Clinic Jacksonville) ; Dickson, Dennis W. (Department of Neuroscience. Mayo Clinic Jacksonville) ; Graff-Radford, N. R. (Department of Neuroscience. Mayo Clinic Jacksonville) ; Petersen, R. C. (Department of Neurology. Mayo Clinic Rochester) ; Knopman, D. (Department of Neurology. Mayo Clinic Rochester) ; Josephs, K. A. (Department of Neurology. Mayo Clinic Rochester) ; Boeve, Bradley (Department of Neurology. Mayo Clinic Rochester) ; Parisi, J. E. (Department of Pathology. Mayo Clinic Rochester) ; Karydas, A. M. (University of California, San Francisco (UCSF)) ; Rosen, H. (University of California, San Francisco (UCSF)) ; van Swieten, J. C. (Department of Medical Genetics. VU university Medical Centre) ; Dopper, E. G. P. (Department of Medical Genetics. VU university Medical Centre) ; Seelaar, H. (Department of Medical Genetics. VU university Medical Centre) ; Pijnenburg, Y. A. L. (VU University Medical Centre. Department of Neurology) ; Scheltens, Philip (VU University Medical Centre. Department of Neurology) ; Logroscino, Giancarlo (Department of Basic Medical Sciences. Neurosciences and Sense Organs. "Aldo Moro" University of Bari) ; Capozzo, Rosa (University of Bari) ; Novelli, V. (Medical Genetics Unit. Fondazione Policlinico Universitario A. Gemelli) ; Puca, A. A. (Department of Medicine and Surgery. University of Salerno) ; Franceschi, M. (Neurology Department. IRCCS Multimedica) ; Postiglione, A. (Department of Clinical Medicine and Surgery. University of Naples Federico II) ; Milan, G. (Geriatric Center Frullone ASL Napoli 1 Centro) ; Sorrentino, P. (Geriatric Center Frullone ASL Napoli 1 Centro) ; Kristiansen, M. (UCL Genomics. Institute of Child Health (ICH). UCL) ; Chiang, H. H. (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Graff, C. (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Pasquier, Florence (Université des Sciences et Technologies de Lille. Inserm 1171. DISTALZ. CHU 59000) ; Rollin, A. (Université des Sciences et Technologies de Lille. Inserm 1171. DISTALZ. CHU 59000) ; Deramecourt, Vincent (Université des Sciences et Technologies de Lille. Inserm 1171. DISTALZ. CHU 59000) ; Lebouvier, Thibaud (Université des Sciences et Technologies de Lille. Inserm 1171. DISTALZ. CHU 59000) ; Kapogiannis, D. (National Institute on Aging (NIA/NIH)) ; Ferrucci, Luigi (National Institute on Aging (Baltimore, Estats Units d'Amèrica)) ; Pickering-Brown, S. (University of Manchester) ; Singleton, Andrew B (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Universitat Autònoma de Barcelona
The semantic variant of primary progressive aphasia (svPPA) is a clinical syndrome characterized by neurodegeneration and progressive loss of semantic knowledge. Unlike many other forms of frontotemporal lobar degeneration (FTLD), svPPA has a highly consistent underlying pathology composed of TDP-43 (a regulator of RNA and DNA transcription metabolism). [...]
2019 - 10.1038/s41598-019-46415-1
Scientific reports, Vol. 9 Núm. 1 (january 2019) , p. 10854  
8.
14 p, 2.8 MB Moving beyond neurons : the role of cell type-specific gene regulation in Parkinson's disease heritability / Reynolds, Regina H (Department of Neurodegenerative Disease. University College London (UCL) Institute of Neurology) ; Botía, J. (Universidad de Murcia. Departamento de Ingeniería de la Información y las Comunicaciones) ; Nalls, M. A. (Data Tecnica International) ; Noyce, A. J. (Preventive Neurology Unit. Wolfson Institute of Preventive Medicine. QMUL) ; Nicolas, A. (National Institute on Aging (Estats Units d'Amèrica)) ; Cookson, Mark R (National Institute on Aging (Estats Units d'Amèrica)) ; Bandres-Ciga, Sara (National Institute on Aging (Estats Units d'Amèrica)) ; Gibbs, J. R. (National Institute on Aging (Estats Units d'Amèrica)) ; Hernandez, D. G. (National Institute on Aging (Estats Units d'Amèrica)) ; Singleton, A. B. (National Institute on Aging (Estats Units d'Amèrica)) ; Reed, X. (National Institute on Aging (Estats Units d'Amèrica)) ; Leonard, H. (National Institute on Aging (Estats Units d'Amèrica)) ; Blauwendraat, Cornelis (National Institute of Neurological Disorders and Stroke) ; Faghri, F. (Department of Computer Science. University of Illinois at Urbana-Champaign) ; Bras, Jose (Department of Molecular Neuroscience. UCL) ; Guerreiro, Rita (Department of Molecular Neuroscience. UCL) ; Tucci, A. (Department of Molecular Neuroscience. UCL) ; Kia, Demis A (Department of Molecular Neuroscience. UCL) ; Houlden, Henry (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, Viorica (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, Peter (MRC Centre for Neuropsychiatric Genetics & Genomics) ; Kinghorn, K. J. (Institute of Healthy Ageing. University College London) ; Lewis, P. (University of Reading) ; Escott-Price, Valentina (MRC Centre for Neuropsychiatric Genetics and Genomics. Cardiff University School of Medicine) ; Williams, N. (MRC Centre for Neuropsychiatric Genetics and Genomics. Cardiff University School of Medicine) ; Foltynie, T. (UCL Institute of Neurology (Regne Unit)) ; Brice, Alexis (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, Fabrice (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, Jean-Christophe (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, Kathrin (DZNE. German Center for Neurodegenerative Diseases) ; Simón-Sánchez, J. (DZNE. German Center for Neurodegenerative Diseases) ; Heutink, Peter (DZNE. German Center for Neurodegenerative Diseases) ; Gasser, Thomas (DZNE. German Center for Neurodegenerative Diseases) ; Rizzu, P. (DZNE. German Center for Neurodegenerative Diseases) ; Sharma, M. (Centre for Genetic Epidemiology. Institute for Clinical Epidemiology and Applied Biometry. University of Tubingen) ; Shulman, J. M. (Jan and Dan Duncan Neurological Research Institute. Texas Children's Hospital) ; Robak, L. (Departments of Neurology. Neuroscience. and Molecular & Human Genetics. Baylor College of Medicine) ; Lubbe, S. (Ken and Ruth Davee Department of Neurology. Northwestern University Feinberg School of Medicine) ; Mencacci, N. E. (Northwestern University Feinberg School of Medicine) ; Finkbeiner, S. (Gladstone Institute of Neurological Disease. Taube/Koret Center for Neurodegenerative Disease Research) ; Lungu, C. (National Institutes of Health Division of Clinical Research. NINDS. National Institutes of Health) ; Scholz, S. W. (Neurodegenerative Diseases Research Unit. National Institute of Neurological Disorders and Stroke) ; Gan-Or, Z. (Montreal Neurological Institute and Hospital. Departments of Neurology and Neurosurgery. Department of Human Genetics. McGill University) ; Rouleau, G. A. (Montreal Neurological Institute and Hospital. Departments of Neurology and Neurosurgery. Department of Human Genetics. McGill University) ; Krohan, L. (Department of Human Genetics. McGill University) ; van Hilten, J. J. (Department of Neurology. Leiden University Medical Center) ; Marinus, J. (Department of Neurology. Leiden University Medical Center) ; Adarmes-Gómez, A.D (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Bernal-Bernal, I. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Bonilla-Toribio, Marta (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Buiza-Rueda, Dolores (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Carrillo, F. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Carrión-Claro, M. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Mir, P. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Gómez-Garre, P. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Jesús, S. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Labrador-Espinosa, Miguel A (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Macías-García, Daniel (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Vargas-González, L. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Méndez-del-Barrio, C. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Periñán-Tocino, T. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Tejera-Parrado, C. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Diez-Fairen, Monica. (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Aguilar Barberà, Miquel (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Alvarez, Ignacio (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Boungiorno, M. T. (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Carcel, M. (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Tartari, J. P. (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Alvarez, Victoria (Hospital Universitario Central de Asturias) ; González, M. M. (Hospital Universitario Central de Asturias) ; Blázquez Estrada, Marta (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. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Yarza, J. A. B. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Pagola, A. G. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; de Munain Arregui, A. L. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Ruiz-Martínez, J. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Cerdan, Debora (Hospital General de Segovia) ; Duarte, J. (Hospital General de Segovia) ; Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ; Infante, J. (University of Cantabria) ; Marín, J. (Institut d'Investigació Biomèdica Sant Pau) ; Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ; Pagonabarraga Mora, Javier (Institut d'Investigació Biomèdica Sant Pau) ; Gonzalez-Aramburu, Isabel (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Rodriguez, A. S. (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Sierra, M. (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Duran, Raquel (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. (Instituto de Investigación Sanitaria de Granada) ; Mínguez, A. (Instituto de Investigación Sanitaria de Granada) ; Cámara, Ana (Hospital Clínic i Provincial de Barcelona) ; Compta, Yaroslau (Hospital Clínic i Provincial de Barcelona) ; Ezquerra, Mario (Hospital Clínic i Provincial de Barcelona) ; Marti, M. J. (Hospital Clínic i Provincial de Barcelona) ; Fernández, M. (Hospital Clínic i Provincial de Barcelona) ; Muñoz García, José Esteban (Hospital Clínic i Provincial de Barcelona) ; Fernández Santiago, Rubén (Hospital Clínic i Provincial de Barcelona) ; Tolosa, E. (Hospital Clínic i Provincial de Barcelona) ; Valldeoriola, F. (Hospital Clínic i Provincial de Barcelona) ; García-Ruiz, P. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Heredia, M. J. G. (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Errazquin, F. P. (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Hoenicka, J. (Institut de Recerca Sant Joan de Déu) ; Jiménez-Escrig, Adriano (Hospital Universitario Ramón y Cajal (Madrid)) ; Martínez-Castrillo, J. C. (Hospital Universitario Ramón y Cajal (Madrid)) ; Lopez-Sendon, J. L. (Hospital Universitario Ramón y Cajal (Madrid)) ; Torres, I. M. (Hospital Universitari i Politècnic La Fe (València)) ; Tabernero, C. (Hospital General de Segovia) ; Vela, Lydia (Hospital Universitario Fundación Alcorcón) ; Zimprich, Alexander (Department of Neurology. Medical University of Vienna) ; Pihlstrom, L. (Oslo University Hospital (Oslo, Noruega)) ; Koks, S. (Perron Institute for Neurological and Translational Science) ; Taba, P. (Departments of Neurology and Neurosurgery. University of Tartu) ; Majamaa, K. (Oulu University Hospital (Finlàndia)) ; Siitonen, A. (Oulu University Hospital (Finlàndia)) ; 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, Anjali 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, Leanne (Institute for Molecular Bioscience. University of Queensland) ; Wray, N. R. (Queensland Brain Institute. University of Queensland) ; Yang, J. (Queensland Brain Institute. University of Queensland) ; Visscher, P. M. (Queensland Brain Institute. University of Queensland) ; Gratten, J. (Queensland Brain Institute. University of Queensland) ; Silburn, P. A. (Queensland Brain Institute. University of Queensland) ; Halliday, G. (University of Sydney. Brain and Mind Centre) ; Hickie, Ian B (University of Sydney. Brain and Mind Centre) ; Kwok, J. (University of Sydney. Brain and Mind Centre) ; Lewis, S. (University of Sydney. Brain and Mind Centre) ; Kennedy, M. (Department of Pathology. University of Otago) ; Pearson, J. (Department of Pathology. University of Otago) ; Hardy, J. (UK Dementia Research Institute at University College London (UCL)) ; Gagliano Taliun, Sarah A (Center for Statistical Genetics and Department of Biostatistics. University of Michigan) ; Ryten, Mina (Department of Neurodegenerative Disease. University College London (UCL) Institute of Neurology) ; Universitat Autònoma de Barcelona
Parkinson's disease (PD), with its characteristic loss of nigrostriatal dopaminergic neurons and deposition of α-synuclein in neurons, is often considered a neuronal disorder. However, in recent years substantial evidence has emerged to implicate glial cell types, such as astrocytes and microglia. [...]
2019 - 10.1038/s41531-019-0076-6
NPJ Parkinson's disease, Vol. 5 Núm. 1 (january 2019) , p. 6  
9.
5 p, 238.9 KB Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3) : a two-case report / Bettencourt, Conceição (Universidade dos Açores. Center of Research in Natural Resources) ; Pereira dos Santos, Cristina Maria (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia) ; Coutinho, Paula (Universidade do Porto. Institute for Molecular and Cell Biology) ; Rizzu, P. (Amsterdam UMC. University Medical Center) ; Vasconcelos, João (Hospital of Divino Espirito Santo. Department of Neurology) ; Kay, Teresa (Hospital of D. Estefania. Department of Clinical Genetics (Lisboa, Portugal)) ; Cymbron, Teresa (Universidade dos Açores. Center of Research in Natural Resources) ; Raposo, Mafalda (Universidade dos Açores. Center of Research in Natural Resources) ; Heutink, Peter (Amsterdam UMC. University Medical Center) ; Lima, Manuela (Universidade dos Açores. Center of Research in Natural Resources)
Background: Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3 (SCA3), is an autosomal dominant neurodegenerative disorder of late onset, which is caused by a CAG repeat expansion in the coding region of the ATXN3 gene. [...]
2011 - 10.1186/1471-2377-11-131
BMC Neurology, Vol. 11, N. 131 (October 2011) , p. 1-5  

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