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16 p, 1.8 MB |
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information
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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
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14 p, 2.8 MB |
Moving beyond neurons : the role of cell type-specific gene regulation in Parkinson's disease heritability
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Reynolds, Regina H (Department of Neurodegenerative Disease. University College London (UCL) Institute of Neurology) ;
Botía, Juan A. (Universidad de Murcia) ;
Nalls, Mike A. (Data Tecnica International (Maryland, Estats Units)) ;
Noyce, Alastair J. (Preventive Neurology Unit. Wolfson Institute of Preventive Medicine. QMUL) ;
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)) ;
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 (National Institute on Aging (Estats Units d'Amèrica)) ;
Blauwendraat, Cornelis (National Institute of Neurological Disorders and Stroke) ;
Faghri, Faraz (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, Arianna (Department of Molecular Neuroscience. UCL) ;
Kia, Demis A. (Department of Molecular Neuroscience. UCL) ;
Houlden, Henry (Department of Molecular Neuroscience. UCL) ;
Plun-Favreau, Helen (Department of Molecular Neuroscience. UCL) ;
Mok, Kin Ying (Department of Molecular Neuroscience. UCL) ;
Wood, Nicholas W. (Department of Molecular Neuroscience. UCL) ;
Lovering, Ruth Caroline (Department of Molecular Neuroscience. UCL) ;
R'Bibo, Lea (Department of Molecular Neuroscience. UCL) ;
Rizig, Mie (Department of Molecular Neuroscience. UCL) ;
Chelban, Viorica (Department of Molecular Neuroscience. UCL) ;
Trabzuni, Daniah (Department of Genetics. King Faisal Specialist Hospital and Research Centre) ;
Tan, Manuela (Department of Clinical Neuroscience. University College London) ;
Morris, Huw (Department of Clinical Neuroscience. University College London) ;
Middlehurst, Ben (Institute of Translational Medicine. University of Liverpool) ;
Quinn, John (Institute of Translational Medicine. University of Liverpool) ;
Billingsley, Kimberley (Institute of Translational Medicine. University of Liverpool) ;
Holmans, Peter (MRC Centre for Neuropsychiatric Genetics & Genomics) ;
Kinghorn, Kerri J. (Institute of Healthy Ageing. University College London) ;
Lewis, Patrick (University of Reading) ;
Escott-Price, Valentina (MRC Centre for Neuropsychiatric Genetics and Genomics. Cardiff University School of Medicine) ;
Williams, Nigel (MRC Centre for Neuropsychiatric Genetics and Genomics. Cardiff University School of Medicine) ;
Foltynie, Thomas (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, Suzanne (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, Maria (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 (Centre for Genetic Epidemiology. Institute for Clinical Epidemiology and Applied Biometry. University of Tubingen) ;
Shulman, Joshua M. (Jan and Dan Duncan Neurological Research Institute. Texas Children's Hospital) ;
Robak, Laurie (Departments of Neurology. Neuroscience. and Molecular & Human Genetics. Baylor College of Medicine) ;
Lubbe, Steven (Ken and Ruth Davee Department of Neurology. Northwestern University Feinberg School of Medicine) ;
Mencacci, Niccolò Emanuele (Northwestern University Feinberg School of Medicine) ;
Finkbeiner, Steven (Gladstone Institute of Neurological Disease. Taube/Koret Center for Neurodegenerative Disease Research) ;
Lungu, Codrin (National Institutes of Health Division of Clinical Research. NINDS. National Institutes of Health) ;
Scholz, Sonja (Neurodegenerative Diseases Research Unit. National Institute of Neurological Disorders and Stroke) ;
Gan-Or, Ziv (Montreal Neurological Institute and Hospital. Departments of Neurology and Neurosurgery. Department of Human Genetics. McGill University) ;
Rouleau, Guy A. (Montreal Neurological Institute and Hospital. Departments of Neurology and Neurosurgery. Department of Human Genetics. McGill University) ;
Krohan, Lynne (Department of Human Genetics. 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 (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Bernal-Bernal, Inmaculada (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, Fátima (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Carrión-Claro, Mario (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Mir, Pablo (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Gómez-Garre, Pilar (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Jesús, Silvia (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, Laura (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Méndez-del-Barrio, Carlota (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Periñán-Tocino, Teresa (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Tejera-Parrado, Cristina (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, Maria Teresa (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Carcel, Maria (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Tartari, Juan Pablo (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Alvarez, Victoria (Hospital Universitario Central de Asturias) ;
González, Manel Menéndez (Hospital Universitario Central de Asturias) ;
Blázquez Estrada, Marta (Hospital Universitario Central de Asturias) ;
Garcia, Ciara (Hospital Universitario Central de Asturias) ;
Suarez-Sanmartin, Esther (Hospital Universitario Central de Asturias) ;
Barrero, Francisco Javier (Hospital Universitario Parque Tecnologico de la Salud) ;
Rezola, Elisabet Mondragon (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Yarza, Jesús Alberto Bergareche (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Pagola, Ana Gorostidi (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
de Munain Arregui, Adolfo López (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
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10 p, 1.2 MB |
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
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Köhler, Sebastian (Monarch Initiative) ;
Carmody, Leigh (Jackson Laboratory for Genomic Medicine) ;
Vasilevsky, Nicole (Oregon Health and Science University) ;
Jacobsen, Julius O. B. (Queen Mary University of London) ;
Danis, Daniel (Jackson Laboratory for Genomic Medicine) ;
Gourdine, Jean-Philippe (Oregon Health and Science University) ;
Gargano, Michael A. (Jackson Laboratory for Genomic Medicine) ;
Harris, Nomi (Lawrence Berkeley National Laboratory) ;
Matentzoglu, Nicolas (European Bioinformatics Institute) ;
McMurry, Julie A. (Oregon State University) ;
Osumi-Sutherland, David (European Bioinformatics Institute) ;
Cipriani, Valentina (University College of London) ;
Balhoff, James P. (University of North Carolina at Chapel Hill) ;
Conlin, Tom (Oregon State University) ;
Blau, Hannah (Jackson Laboratory for Genomic Medicine) ;
Baynam, Gareth (Government of Western Australia) ;
Palmer, Richard (Curtin University (Perth, Australia)) ;
Gratian, Dylan (Government of Western Australia) ;
Dawkins, Hugh (Government of Western Australia) ;
Segal, Michael (SimulConsult) ;
Jansen, Anna (UZ Brussel) ;
Muaz, Ahmed (Darlinghurst) ;
Chang, Willie H. (Centre for Computational Medicine. Hospital for Sick Children. Department of Computer Science. University of Toronto) ;
Bergerson, Jenna (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ;
Laulederkind, Stanley (Marquette University) ;
Yüksel, Z. (Bioscientia GmbH) ;
Beltran i Agulló, Sergi (Universitat Pompeu Fabra) ;
Freeman, Alexandra F. (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ;
Sergouniotis, Panos (University of Manchester. Manchester Royal Eye Hospital) ;
Durkin, Daniel (Jackson Laboratory for Genomic Medicine) ;
Storm, Andrea L. (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ;
Hanauer, Marc (INSERM) ;
Brudno, Michael (University of Toronto) ;
Bello, Susan (Jackson Laboratory) ;
Sincan, Murat (Sanford Health) ;
Rageth, Kayli (Sanford Health) ;
Wheeler, Matthew T. (Stanford University School of Medicine) ;
Oegema, Renske (University Medical Center) ;
Lourghi, Halima (INSERM) ;
Della Rocca, Maria G. (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ;
Thompson, R. (Newcastle University) ;
Castellanos, Francisco (Jackson Laboratory for Genomic Medicine) ;
Priest, James (Stanford University School of Medicine) ;
Cunningham-Rundles, Charlotte (Mount Sinai School of Medicine) ;
Hegde, Ayushi (Jackson Laboratory for Genomic Medicine) ;
Lovering, Ruth Caroline (University College London) ;
Hajek, Catherine (Sanford Imagenetics. Sanford Health) ;
Olry, Annie (INSERM) ;
Notarangelo, Luigi (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ;
Similuk, Morgan (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ;
Zhang, Xingmin (Jackson Laboratory for Genomic Medicine) ;
Gómez-Andrés, David (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Lochmüller, Hanns (Ottawa Hospital Research Institute) ;
Dollfus, Hélène (Strasbourg University Hospital) ;
Rosenzweig, Sergio (NIH Clinical Center) ;
Marwaha, Shruti (Stanford University School of Medicine) ;
Rath, Ana (INSERM) ;
Sullivan, Kathleen (University of Pennsylvania Perelman School of Medicine) ;
Smith, Cynthia (Jackson Laboratory) ;
Milner, Joshua D. (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ;
Leroux, Dorothée (Strasbourg University Hospital) ;
Boerkoel, Cornelius (Sanford Health) ;
Klion, Amy (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ;
Carter, Melody C. (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ;
Groza, Tudor (Darlinghurst) ;
Smedley, Damian (Queen Mary University of London) ;
Haendel, Melissa Anne (Oregon State University) ;
Mungall, Christopher (Lawrence Berkeley National Laboratory) ;
Robinson, Peter N. (University of Connecticut) ;
Universitat Autònoma de Barcelona
The Human Phenotype Ontology (HPO) - a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases - is used by thousands of researchers, clinicians, informaticians and electronic health record systems around the world. [...]
2019 - 10.1093/nar/gky1105
Nucleic acids research, Vol. 47 Núm. D1 (august 2019) , p. D1018-D1027
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