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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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11 p, 458.4 KB |
Pembrolizumab in Asian patients with microsatellite-instability-high/mismatch-repair-deficient colorectal cancer
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Yoshino, Takayuki (National Cancer Center Hospital East) ;
André, Thierry (Sorbonne University) ;
Kim, Tae Won (University of Ulsan) ;
Yong, Wei Peng (National University Cancer Institute) ;
Shiu, Kai-Keen (University College Hospital) ;
Jensen, Benny Vittrup (Herlev and Gentofte Hospital) ;
Jensen, Lars Henrik (University Hospital of Southern Denmark) ;
Punt, Cornelis J. A. (University Medical Center Utrecht) ;
Smith, Denis (Hôpital Haut-Lévêque) ;
García-Carbonero, Rocío (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ;
Alcaide-Garcia, Julia (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Gibbs, Peter (Western Hospital) ;
de la Fouchardiere, Christelle (Centre Léon Bérard) ;
Rivera, Fernando (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Elez, Elena (Vall d'Hebron Institut d'Oncologia) ;
Le, Dung T. (Johns Hopkins Medicine) ;
Adachi, Noriaki (Merck (Estats Units d'Amèrica)) ;
Fogelman, David (Merck(Estats Units d'Amèrica)) ;
Marinello, Patricia (Merck (Estats Units d'Amèrica)) ;
Diaz, Luis A. (Memorial Sloan Kettering Cancer Center) ;
Universitat Autònoma de Barcelona
The phase 3 KEYNOTE-177 study evaluated pembrolizumab versus chemotherapy with or without bevacizumab or cetuximab in patients with newly diagnosed, microsatellite-instability-high (MSI-H)/mismatch-repair-deficient (dMMR) metastatic colorectal cancer (mCRC). [...]
2022 - 10.1111/cas.15650
Cancer Science, Vol. 114 (december 2022) , p. 1026-1036
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13 p, 2.4 MB |
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage
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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 (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
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5 p, 501.6 KB |
CSF sTREM2 is elevated in a subset in GRN-related frontotemporal dementia
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van der Ende, Emma L (Alzheimer Center Rotterdam and Dept. of Neurology. Erasmus University Medical Center) ;
Morenas-Rodriguez, Estrella (Ludwig-Maximilians-Universität München) ;
McMillan, Corey T. (Penn Frontotemporal Degeneration Center. University of Pennsylvania Perelman School of Medicine) ;
Grossman, Murray (Penn Frontotemporal Degeneration Center. University of Pennsylvania Perelman School of Medicine) ;
Irwin, David J. (Penn Frontotemporal Degeneration Center. University of Pennsylvania Perelman School of Medicine) ;
Sanchez-Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Graff, Caroline (Unit of Hereditary Dementia. Theme Aging. Karolinska University Hospital-Solna) ;
Vandenberghe, Rik (Laboratory for Cognitive Neurology. Department of Neurosciences. Leuven Brain Institute) ;
Pijnenburg, Yolande (Alzheimer Center Amsterdam. Department of Neurology. Amsterdam Neuroscience. Vrije Universiteit Amsterdam) ;
Laforce, Robert Jr (Clinique Interdisciplinaire de Mémoire du CHU de Québec. département des Sciences Neurologiques. Université Laval) ;
Le Ber, Isabelle (Sorbonne Université. Paris Brain Institute. Institut du Cerveau. ICM. Inserm U1127. CNRS UMR 7225. APHP. Hôpital Pitié-Salpêtrière) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Haass, Christian (Munich Cluster for Systems Neurology (SyNergy)) ;
Suárez-Calvet, Marc (German Center for Neurodegenerative Diseases (DZNE) Munich) ;
van Swieten, John Cornelis (Alzheimer Center Rotterdam and Dept. of Neurology. Erasmus University Medical Center) ;
Seelaar, Harro (Alzheimer Center Rotterdam and Dept. of Neurology. Erasmus University Medical Center)
Excessive microglial activation might be a central pathological process in GRN-related frontotemporal dementia (FTD-GRN). We measured soluble triggering receptor expressed on myeloid cells 2 (sTREM2), which is shed from disease-associated microglia following cleavage of TREM2, in cerebrospinal fluid of 34 presymptomatic and 35 symptomatic GRN mutation carriers, 6 presymptomatic and 32 symptomatic C9orf72 mutation carriers and 67 healthy noncarriers by ELISA. [...]
2021 - 10.1016/j.neurobiolaging.2021.02.024
Neurobiology of Aging, Vol. 103 (july 2021) , p. 158.e1-158.e5
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18 p, 6.7 MB |
Identification of sixteen novel candidate genes for late onset Parkinson's disease
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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 ;
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
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7 p, 1.6 MB |
Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a missense variant
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Stee, Kimberley (Ghent University) ;
Van Poucke, Mario (Ghent University) ;
Pumarola i Batlle, Martí (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia Animals) ;
Geerinckx, Lise (University of Ghent) ;
Van Soens, Iris (University of Liège) ;
Bhatti, Sofie F. M. (Ghent University) ;
Peelman, Luc (Ghent University) ;
Cornelis, Ine (Ghent University)
In Belgian Malinois, a KCNJ10 variant causes progressive spinocerebellar degeneration. Describe the clinical, diagnostic, pathological and genetic features of spinocerebellar degeneration in the Bouvier des Ardennes breed. [...]
2022 - 10.1111/jvim.16594
Journal of Veterinary Internal Medicine, Vol. 37 (november 2022) , p. 216-222
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9 p, 1.4 MB |
Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases
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Rizzuto, Valeria (Universitat de Barcelona. Departament de Medicina) ;
Koopmann, Tamara T. (Leiden University Medical Center) ;
Blanco, Adoración (Hospital Universitari Vall d'Hebron) ;
Tazón-Vega, Bárbara (Hospital Universitari Vall d'Hebron) ;
Idrizovic, Amira (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Díaz de Heredia, Cristina (Hospital Universitari Vall d'Hebron) ;
Del Orbe Barreto, Rafael Andrés (Hospital Universitario de Cruces (Barakaldo, País Basc)) ;
Pampliega, Miriam Vara (Hospital Universitario de Cruces (Barakaldo, País Basc)) ;
Velasco, Pablo (Hospital Universitari Vall d'Hebron) ;
Beneitez Pastor, David (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Santen, Gijs Santen W.E. (Leiden University Medical Center) ;
Waisfisz, Quinten (VU Medical Center) ;
Elting, Mariet (VU Medical Center) ;
Smiers, Frans J.W. (Leiden University Medical Center) ;
de Pagter, Anne J. (Leiden University Medical Center) ;
Kerkhoffs, Jean Louis H. (AGA City Hospital) ;
Harteveld, Cornelis L. (Leiden University Medical Center) ;
Mañú Pereira, María del Mar (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras
Unstable hemoglobinopathies (UHs) are rare anemia disorders (RADs) characterized by abnormal hemoglobin (Hb) variants with decreased stability. UHs are therefore easily precipitating, causing hemolysis and, in some cases, leading to dominant beta-thalassemia (dBTHAL). [...]
2021 - 10.3389/fphys.2021.628236
Frontiers in physiology, Vol. 12 (may 2021) , p. 628236
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12 p, 2.6 MB |
Impact of Ag2S NPs on soil bacterial community : a terrestrial mesocosm approach
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Lopes Peixoto, Sara Cristiana (Universidade de Aveiro. Centro de Estudos do Ambiente e do Mar) ;
Khodaparast, Zahra (Universidade de Aveiro. Centro de Estudos do Ambiente e do Mar) ;
Cornelis, Geert (Swedish University of Agricultural Sciences. Department of Soil and Environment) ;
Lahive, Elma (UK Centre for Ecology and Hydrology, Maclean Building) ;
Green Etxabe, Amaia (UK Centre for Ecology and Hydrology, Maclean Building) ;
Baccaro, Marta (Wageningen University. Division of Toxicology) ;
Papadiamantis, Anastasios G. (NovaMechanics Ltd) ;
Gonçalves, Sandra F.. (Universidade de Aveiro. Centro de Estudos do Ambiente e do Mar) ;
Lynch, Iseult (UK Centre for Ecology and Hydrology, Maclean Building) ;
Busquets-Fité, Martí (Applied Nanoparticles SL.) ;
Puntes, Víctor (Institut Català de Nanociència i Nanotecnologia) ;
Loureiro, Susana (Universidade de Aveiro. Centro de Estudos do Ambiente e do Mar) ;
Henriques, I. (Universidade de Coimbra. Departamento de Ciências da Terra)
Soils might be a final sink for AgS nanoparticles (NPs). Still, there are limited data on their effects on soil bacterial communities (SBC). To bridge this gap, we investigated the effects of AgS NPs (10 mg kg soil) on the structure and function of SBC in a terrestrial indoor mesocosm, using a multi-species design. [...]
2020 - 10.1016/j.ecoenv.2020.111405
Ecotoxicology and Environmental Safety, Vol. 206 (Dec. 2020) , art. 111405
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12 p, 1.4 MB |
Metal transfer to sediments, invertebrates and fish following waterborne exposure to silver nitrate or silver sulfide nanoparticles in an indoor stream mesocosm
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Clark, Nathan (University of Plymouth. School of Biological and Marine Sciences) ;
Vassallo, Joanne (University of Plymouth. School of Biological and Marine Sciences) ;
Silva, Patricia V. (Universidade de Aveiro. Departamento de Biologia) ;
Silva, Ana Rita R. (Universidade de Aveiro. Departamento de Biologia) ;
Baccaro, Marta (Wageningen University. Department of Toxicology) ;
Medvešček, Neja (Univerza V Ljubljani. Oddelek za biologijo) ;
Grgić, Magdalena (University of Osijek. Department of Biology) ;
Ferreira, Abel (Universidade de Aveiro. Departamento de Biologia) ;
Busquets-Fité, Martí (Applied Nanoparticles SL) ;
Jurkschat, Kerstin (Oxford University Begbroke Science Park. Department of Materials) ;
Papadiamantis, Anastasios G. (NovaMechanics Ltd.) ;
Puntes, Víctor (Institut Català de Nanociència i Nanotecnologia) ;
Lynch, Iseult (University of Birmingham. School of Geography, Earth and Environmental Sciences) ;
Svendsen, Claus (UK Centre for Ecology & Hydrology) ;
van den Brink, Nico W. (Wageningen University. Department of Toxicology) ;
van Gestel, Cornelis A.M. (Amsterdam Institute for Life and Environment) ;
Loureiro, Susana (Universidade de Aveiro. Departamento de Biologia) ;
Handy, Richard D. (University of Plymouth. School of Biological and Marine Sciences)
The fate of engineered nanomaterials in ecosystems is unclear. An aquatic stream mesocosm explored the fate and bioaccumulation of silver sulfide nanoparticles (AgS NPs) compared to silver nitrate (AgNO). [...]
2022 - 10.1016/j.scitotenv.2022.157912
Science of the total environment, Vol. 850 (Dec. 2022) , art. 157912
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14 p, 1.2 MB |
Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome
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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, Vadim (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
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