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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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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 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
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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 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
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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
/
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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Author Correction : Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
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van Rheenen, Wouter (Utrecht University) ;
van der Spek, Rick A. A. (Utrecht University) ;
Bakker, Mark K. (Utrecht University) ;
van Vugt, Joke J. F. A. (Utrecht University) ;
Hop, Paul J. (Utrecht University) ;
Zwamborn, Ramona A. J. (Utrecht University) ;
de Klein, Niek (University Medical Centre Groningen) ;
Westra, Harm-Jan (University Medical Centre Groningen) ;
Bakker, Olivier B. (University Medical Centre Groningen) ;
Deelen, Patrick (Utrecht University) ;
Shireby, Gemma (University of Exeter) ;
Hannon, Eilis (University of Exeter) ;
Moisse, Matthieu (University Hospitals Leuven (Bèlgica)) ;
Baird, Denis (University of Bristol) ;
Restuadi, Restuadi (University of Queensland) ;
Dolzhenko, Egor (Illumina) ;
Dekker, Annelot M. (Utrecht University) ;
Gawor, Klara (Utrecht University) ;
Westeneng, Henk-Jan (Utrecht University) ;
Tazelaar, Gijs H. P. (Utrecht University) ;
van Eijk, Kristel R. (Utrecht University) ;
Kooyman, Maarten (Utrecht University) ;
Byrne, Ross P. (Trinity College Dublin) ;
Doherty, Mark (Trinity College Dublin) ;
Heverin, Mark (Trinity College Dublin) ;
Al Khleifat, Ahmad (King's College LondonNeuroscience Institute) ;
Iacoangeli, Alfredo (King's College London) ;
Shatunov, Aleksey (King's College London) ;
Ticozzi, Nicola (Università degli Studi di Milano) ;
Cooper-Knock, Johnathan (University of Sheffield) ;
Smith, Bradley N. (King's College London) ;
Gromicho, Marta (Universidade de Lisboa) ;
Chandran, Siddharthan (University of Edinburgh. UK Dementia Research Institute) ;
Pal, Suvankar (University of Edinburgh. UK Dementia Research Institute) ;
Morrison, Karen E. (Queen's University Belfast) ;
Shaw, Pamela J. (University of Sheffield) ;
Hardy, John (University College London) ;
Orrell, Richard W. (University College London) ;
Sendtner, Michael (University Hospital Würzburg) ;
Meyer, Thomas (Humboldt University) ;
Başak, Nazli (Koç University, School of Medicine, KUTTAM-NDAL) ;
van der Kooi, Anneke J. (Academic Medical Center) ;
Ratti, Antonia (Università degli Studi di Milano) ;
Fogh, Isabella (King's College London) ;
Gellera, Cinzia (Fondazione IRCCS Istituto Neurologico 'Carlo Besta') ;
Lauria, Giuseppe (University of Milan) ;
Corti, Stefania (IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico) ;
Cereda, Cristina (IRCCS Mondino Foundation) ;
Sproviero, Daisy (IRCCS Mondino Foundation) ;
D'Alfonso, Sandra (University of Eastern Piedmont) ;
Sorarù, Gianni (University of Padova) ;
Siciliano, Gabriele (University of Pisa) ;
Filosto, Massimiliano (University of Brescia) ;
Padovani, Alessandro (University of Brescia) ;
Chiò, Adriano (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ;
Calvo, Andrea (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ;
Moglia, Cristina (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ;
Brunetti, Maura (University of Torino) ;
Canosa, Antonio (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ;
Grassano, Maurizio (University of Torino) ;
Beghi, Ettore (Istituto di Ricerche Farmacologiche Mario Negri IRCCS) ;
Pupillo, Elisabetta (Istituto di Ricerche Farmacologiche Mario Negri IRCCS) ;
Logroscino, Giancarlo (University of Bari at 'Pia Fondazione Card G. Panico' Hospital. Department of Clinical Research in Neurology) ;
Nefussy, Beatrice (Tel Aviv Sourasky Medical Center) ;
Osmanovic, Alma (University Hospital Essen (Alemanya)) ;
Nordin, Angelica (Umeå University) ;
Lerner, Yossef (Hadassah Medical Center) ;
Zabari, Michal (Hadassah Medical Center) ;
Gotkine, Marc (Hadassah Medical Center) ;
Baloh, Robert H. (Cedars-Sinai Medical Center) ;
Bell, Shaughn (Cedars-Sinai Medical Center) ;
Vourc'h, Patrick (UMR 1253, Université de Tours) ;
Corcia, Philippe (CHU de Tours. Centre de référence sur la SLA) ;
Couratier, Philippe (Université de Limoges) ;
Millecamps, Stéphanie (Sorbonne Université) ;
Meininger, Vincent (Hôpital des Peupliers) ;
Salachas, François (Hôpital de la Pitié-Salpêtrière) ;
Mora Pardina, Jesus S. (ALS Unit, Hospital San Rafael, Madrid) ;
Assialioui, Abdelilah (Hospital Universitari de Bellvitge) ;
Rojas-Garcia, Ricard (Institut d'Investigació Biomèdica Sant Pau) ;
Dion, Patrick A. (McGill University) ;
Ross, Jay P. (McGill University) ;
Ludolph, Albert C. (Ulm University) ;
Weishaupt, Jochen H. (Heidelberg University) ;
Brenner, David (Heidelberg University) ;
Freischmidt, Axel (German Center for Neurodegenerative Diseases) ;
Bensimon, Gilbert (CHU-Nîmes) ;
Brice, Alexis (Sorbonne Université) ;
Durr, Alexandra (Sorbonne Université) ;
Payan, Christine A. M. (Hôpital de la Pitié-Salpêtrière) ;
Saker-Delye, Safa (Genethon, CNRS UMR) ;
Wood, Nicholas W.. (UCL Institute of Neurology (Regne Unit)) ;
Topp, Simon (King's College London.) ;
Rademakers, Rosa (Mayo Clinic College of Medicine) ;
Tittmann, Lukas (Christian Albrechts-University Kiel) ;
Lieb, Wolfgang (Christian Albrechts-University Kiel) ;
Franke, Andre (Kiel University) ;
Ripke, Stephan (Charité - Universitätsmedizin Berlin) ;
Braun, Alice (Charité - Universitätsmedizin Berlin) ;
Kraft, Julia (Charité - Universitätsmedizin Berlin) ;
Whiteman, David C. (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ;
Olsen, Catherine M. (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ;
Uitterlinden, André G. (Erasmus Medical Center Rotterdam) ;
Hofman, Albert (Erasmus Medical Center Rotterdam. Department of Epidemiology) ;
Rietschel, Marcella (Central Institute of Mental Health) ;
Cichon, Sven (Institute of Neuroscience and Medicine INM-1) ;
Nöthen, Markus M. (Life and Brain Center. Department of Genomics) ;
Amouyel, Philippe (University of Lille) ;
Traynor, Bryan J. (Johns Hopkins University) ;
Singleton, Andrew B. (National Institute on Aging (Estats Units d'Amèrica)) ;
Mitne Neto, Miguel (Universidade de São Paulo) ;
Cauchi, Ruben J. (University of Malta) ;
Ophoff, Roel A. (University of California) ;
Wiedau-Pazos, Martina (University of California) ;
Lomen-Hoerth, Catherine (University of California. Department of Neurology) ;
Van Deerlin, Vivianna (University of Pennsylvania) ;
Grosskreutz, Julian (University of Luebeck) ;
Roediger, Annekathrin (Jena University Hospital (Alemanya)) ;
Gaur, Nayana (Jena University Hospital (Alemanya)) ;
Jörk, Alexander (Jena University Hospital (Alemanya)) ;
Barthel, Tabea (Jena University Hospital (Alemanya)) ;
Theele, Erik (Jena University Hospital (Alemanya)) ;
Ilse, Benjamin (Jena University Hospital (Alemanya)) ;
Stubendorff, Beatrice (Jena University Hospital (Alemanya)) ;
Witte, Otto W. (Jena University Hospital (Alemanya)) ;
Steinbach, Robert (Jena University Hospital (Alemanya)) ;
Hübner, Christian A. (Jena University Hospital (Alemanya)) ;
Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Brylev, Lev (Institute of Higher Nervous Activity and Neurophysiology Russian Academy of Sciences. Department of Functional Biochemistry of the Nervous System) ;
Fominykh, Vera (Institute of Higher Nervous Activity and Neurophysiology Russian Academy of Sciences) ;
Demeshonok, Vera (Medical Clinic of the St. Petersburg) ;
Ataulina, Anastasia (Bujanov Moscow Clinical Hospital, Moscow, Russia) ;
Rogelj, Boris (University of Ljubljana) ;
Koritnik, Blaž (University Medical Centre Ljubljana) ;
Zidar, Janez (University Medical Centre Ljubljana) ;
Ravnik-Glavač, Metka (University of Ljubljana) ;
Glavač, Damjan (University of Ljubljana) ;
Stević, Zorica (University of Belgrade) ;
Drory, Vivian (Tel Aviv University) ;
Povedano, Monica (Hospital Universitari de Bellvitge) ;
Blair, Ian P. (Macquarie University) ;
Kiernan, Matthew C. (University of Sydney) ;
Benyamin, Beben (University of South Australia) ;
Henderson, Robert D. (Royal Brisbane and Women's Hospital) ;
Furlong, Sarah (Macquarie University) ;
Mathers, Susan (Calvary Health Care Bethlehem) ;
McCombe, Pamela A. (University of Queensland) ;
Needham, Merrilee (Murdoch University) ;
Ngo, Shyuan T. (University of Queensland) ;
Nicholson, Garth A. (Concord Repatriation General Hospital) ;
Pamphlett, Roger (University of Sydney) ;
Rowe, Dominic B. (Macquarie University) ;
Steyn, Frederik J. (University of Queensland) ;
Williams, Kelly (Macquarie University) ;
Mather, Karen A. (Neuroscience Research Australia Institute) ;
Sachdev, Perminder S. (the Prince of Wales Hospital) ;
Henders, Anjali K. (University of Queensland) ;
Wallace, Leanne (University of Queensland) ;
De Carvalho, Mamede (Universidade de Lisboa) ;
Pinto, Susana (Universidade de Lisboa) ;
Petri, Susanne (Hannover Medical School) ;
Weber, Markus (Kantonsspital St. Gallen) ;
Rouleau, Guy A. (McGill University) ;
Silani, Vincenzo (Università degli Studi di Milano) ;
Curtis, Charles J. (King's College London) ;
Breen, Gerome (King's College London) ;
Glass, Jonathan D. (Emory University School of Medicine) ;
Brown, Robert H. (University of Massachusetts Medical School) ;
Landers, John E. (University of Massachusetts Medical School) ;
Shaw, Christopher E. (King's College London) ;
Andersen, Peter Munch (Umeå University) ;
Groen, Ewout J. N. (Utrecht University) ;
van Es, Michael A. (Utrecht University) ;
Pasterkamp, R. Jeroen (Utrecht University) ;
Fan, Dongsheng (Peking University) ;
Garton, Fleur C. (University of Queensland) ;
McRae, Allan F. (University of Queensland) ;
Smith, George Davey (Bristol Medical School) ;
Gaunt, Tom (Bristol Medical School) ;
Eberle, Michael A. (Illumina) ;
Mill, Jonathan (University of Exeter) ;
McLaughlin, Russell L. (Trinity College Dublin) ;
Hardiman, Orla (Trinity College Dublin) ;
Kenna, Kevin P. (Utrecht University) ;
Wray, Naomi R. (University of Queensland) ;
Tsai, Ellen (Biogen. Translational Biology) ;
Runz, Heiko (Biogen. Translational Biology) ;
Franke, Lude (University Medical Centre Groningen) ;
Al-Chalabi, Ammar (King's College Hospital NHS Foundation Trust) ;
Van Damme, Philip (University Hospitals Leuven (Bèlgica)) ;
van den Berg, Leonard H. (Utrecht University) ;
Veldink, Jan (Utrecht University) ;
Universitat Autònoma de Barcelona
2022 - 10.1038/s41588-022-01020-3
Nature genetics, Vol. 54 (january 2022) , p. 361
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6.
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14 p, 1.2 MB |
Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis
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Vila Cuenca, Marc (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Marchi, Giacomo (Azienda Ospedaliera Universitaria Integrata di Verona) ;
Barqué, Anna (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Esteban-Jurado, Clara (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Marchetto, Alessandro (University of Verona) ;
Giorgetti, Alejandro (Department of Biotechnology, University of Verona) ;
Chelban, Viorica (National Hospital for Neurology and Neurosurgery, London) ;
Houlden, Henry (National Hospital for Neurology and Neurosurgery, London) ;
Wood, Nicholas W.. (National Hospital for Neurology and Neurosurgery, London) ;
Piubelli, Chiara (Centre for Tropical Diseases, Ospedale Sacro Cuore - Don Calabria) ;
Dorigatti Borges, Marina (University of Campinas-UNICAMP) ;
Martins de Albuquerque, Dulcinéia (University of Campinas-UNICAMP) ;
Yotsumoto Fertrin, Kleber (University of Campinas-UNICAMP) ;
Jové-Buxeda, Ester (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Sánchez-Delgado, Jordi (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Baena Díez, Neus (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Burnyte, Birute (Vilnius University) ;
Utkus, Algirdas (Vilnius University) ;
Busti, Fabiana (Azienda Ospedaliera Universitaria Integrata di Verona) ;
Kaubrys, Gintaras (Vilnius University) ;
Suku, Eda (University of Verona) ;
Kowalczyk, Kamil (Medical University of Gdańsk) ;
Karaszewski, Bartosz (Medical University of Gdańsk) ;
Porter, John B. (University College London NHS Foundation Trust) ;
Pollard, Sally (Consultant Paediatrician, Bradford Royal Infirmary) ;
Eleftheriou, Perla (University College London NHS Foundation Trust) ;
Bignell, Patricia (Oxford University Hospitals NHS Foundation Trust) ;
Girelli, Domenico (Azienda Ospedaliera Universitaria Integrata di Verona) ;
Sánchez-Fernández, Mayka (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Aceruloplasminemia is a rare autosomal recessive genetic disease characterized by mild microcytic anemia, diabetes, retinopathy, liver disease, and progressive neurological symptoms due to iron accumulation in pancreas, retina, liver, and brain. [...]
2020 - 10.3390/ijms21072374
International journal of molecular sciences, Vol. 21 (march 2020)
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7.
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32 p, 8.9 MB |
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
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van Rheenen, Wouter (Utrecht University) ;
van der Spek, Rick A. A. (Utrecht University) ;
Bakker, Mark K. (Utrecht University) ;
van Vugt, Joke J. F. A. (Utrecht University) ;
Hop, Paul J. (Utrecht University) ;
Zwamborn, Ramona A. J. (Utrecht University.) ;
de Klein, Niek (University Medical Centre Groningen) ;
Westra, Harm-Jan (University Medical Centre Groningen) ;
Bakker, Olivier B. (University Medical Centre Groningen) ;
Deelen, Patrick (Utrecht University) ;
Shireby, Gemma (University of Exeter) ;
Hannon, Eilis (University of Exeter) ;
Moisse, Matthieu (University Hospitals Leuven (Bèlgica)) ;
Baird, Denis (University of Bristol) ;
Restuadi, Restuadi (University of Queensland) ;
Dolzhenko, Egor (Illumina) ;
Dekker, Annelot M. (Utrecht University) ;
Gawor, Klara (Utrecht University) ;
Westeneng, Henk-Jan (Utrecht University) ;
Tazelaar, Gijs H. P. (Utrecht University) ;
van Eijk, Kristel R. (Utrecht University) ;
Kooyman, Maarten (Utrecht University) ;
Byrne, Ross P. (Trinity College Dublin) ;
Doherty, Mark (Trinity College Dublin) ;
Heverin, Mark (Trinity College Dublin) ;
Al Khleifat, Ahmad (King's College London) ;
Iacoangeli, Alfredo (King's College London) ;
Shatunov, Aleksey (King's College London) ;
Ticozzi, Nicola (Università degli Studi di Milano) ;
Cooper-Knock, Johnathan (University of Sheffield) ;
Smith, Bradley N. (King's College London) ;
Gromicho, Marta (Universidade de Lisboa) ;
Chandran, Siddharthan (University of Edinburgh) ;
Pal, Suvankar (University of Edinburgh. UK Dementia Research Institute) ;
Morrison, Karen E. (Queen's University Belfast) ;
Shaw, Pamela J. (University of Sheffield) ;
Hardy, John (University College London) ;
Orrell, Richard W. (University College London) ;
Sendtner, Michael (University Hospital Würzburg) ;
Meyer, Thomas (Humboldt University) ;
Başak, Nazli (Bogazici University) ;
van der Kooi, Anneke J. (Academic Medical Center) ;
Ratti, Antonia (Università degli Studi di Milano) ;
Fogh, Isabella (King's College London) ;
Gellera, Cinzia (Fondazione IRCCS Istituto Neurologico 'Carlo Besta') ;
Lauria, Giuseppe (University of Milan) ;
Corti, Stefania (IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico) ;
Cereda, Cristina (IRCCS Mondino Foundation) ;
Sproviero, Daisy (IRCCS Mondino Foundation) ;
D'Alfonso, Sandra (University of Eastern Piedmont) ;
Sorarù, Gianni (University of Padova) ;
Siciliano, Gabriele (University of Pisa) ;
Filosto, Massimiliano (University of Brescia) ;
Padovani, Alessandro (University of Brescia) ;
Chiò, Adriano (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ;
Calvo, Andrea (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ;
Moglia, Cristina (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ;
Brunetti, Maura (University of Torino) ;
Canosa, Antonio (Azienda Ospedaliero Universitaria Città della Salute e della Scienza.) ;
Grassano, Maurizio (University of Torino) ;
Beghi, Ettore (Istituto di Ricerche Farmacologiche Mario Negri IRCCS) ;
Pupillo, Elisabetta (Istituto di Ricerche Farmacologiche Mario Negri IRCCS) ;
Logroscino, Giancarlo (University of Bari at 'Pia Fondazione Card G) ;
Nefussy, Beatrice (Tel Aviv Sourasky Medical Center) ;
Osmanovic, Alma (University Hospital Essen (Alemanya)) ;
Nordin, Angelica (Umeå University) ;
Lerner, Yossef (Hadassah Medical Center) ;
Zabari, Michal (Hadassah Medical Center) ;
Gotkine, Marc (Hadassah Medical Center) ;
Baloh, Robert H. (Cedars-Sinai Medical Center) ;
Bell, Shaughn (Cedars-Sinai Medical Center) ;
Vourc'h, Patrick (UMR 1253, Université de Tours) ;
Corcia, Philippe (CHU de Tours) ;
Couratier, Philippe (Université de Limoges) ;
Millecamps, Stéphanie (ICM, Sorbonne Université) ;
Meininger, Vincent (Hôpital des Peupliers) ;
Salachas, François (Hôpital de la Pitié-Salpêtrière, AP-HP) ;
Mora Pardina, Jesus S. (Hospital San Rafael, Madrid) ;
Assialioui, Abdelilah (Hospital Universitari de Bellvitge) ;
Rojas-Garcia, Ricard (Institut d'Investigació Biomèdica Sant Pau) ;
Dion, Patrick A. (McGill University) ;
Ross, Jay P. (McGill University) ;
Ludolph, Albert C. (Ulm University) ;
Weishaupt, Jochen H. (Heidelberg University) ;
Brenner, David (Heidelberg University) ;
Freischmidt, Axel (German Center for Neurodegenerative Diseases (DZNE) Ulm) ;
Bensimon, Gilbert (CHU-Nîmes) ;
Brice, Alexis (Hôpital de la Pitié Salpêtrière.) ;
Durr, Alexandra (Hôpital de la Pitié Salpêtrière) ;
Payan, Christine A. M. (Hôpital de la Pitié-Salpêtrière) ;
Saker-Delye, Safa (Genethon, CNRS UMR) ;
Wood, Nicholas W.. (UCL Institute of Neurology (Regne Unit)) ;
Topp, Simon (King's College London) ;
Rademakers, Rosa (Mayo Clinic College of Medicine) ;
Tittmann, Lukas (Christian Albrechts-University Kiel) ;
Lieb, Wolfgang (Christian Albrechts-University Kiel) ;
Franke, Andre (Kiel University) ;
Ripke, Stephan (Charité - Universitätsmedizin Berlin) ;
Braun, Alice (Charité - Universitätsmedizin Berlin) ;
Kraft, Julia (Charité - Universitätsmedizin Berlin) ;
Whiteman, David C. (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ;
Olsen, Catherine M. (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ;
Uitterlinden, André G. (Erasmus Medical Center Rotterdam) ;
Hofman, Albert (Erasmus Medical Center Rotterdam) ;
Rietschel, Marcella (Heidelberg University. Central Institute of Mental Health) ;
Cichon, Sven (Institute of Neuroscience and Medicine INM-1, Research Center Juelich) ;
Nöthen, Markus M. (University of Bonn. Life and Brain Center) ;
Amouyel, Philippe (University of Lille) ;
Traynor, Bryan J. (Johns Hopkins University) ;
Singleton, Andrew B. (National Institute on Aging, NIH) ;
Mitne Neto, Miguel (Universidade de São Paulo) ;
Cauchi, Ruben J. (University of Malta) ;
Ophoff, Roel A. (University of California) ;
Wiedau-Pazos, Martina (University of California) ;
Lomen-Hoerth, Catherine (University of California) ;
Van Deerlin, Vivianna (University of Pennsylvania) ;
Grosskreutz, Julian (University of Luebeck) ;
Roediger, Annekathrin (Jena University Hospital (Alemanya)) ;
Gaur, Nayana (Jena University Hospital (Alemanya)) ;
Jörk, Alexander (Jena University Hospital (Alemanya)) ;
Barthel, Tabea (Jena University Hospital (Alemanya)) ;
Theele, Erik (Jena University Hospital (Alemanya)) ;
Ilse, Benjamin (Jena University Hospital (Alemanya)) ;
Stubendorff, Beatrice (Jena University Hospital (Alemanya)) ;
Witte, Otto W. (Jena University Hospital (Alemanya)) ;
Steinbach, Robert (Jena University Hospital (Alemanya)) ;
Hübner, Christian A. (Jena University Hospital (Alemanya)) ;
Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Brylev, Lev (Institute of Higher Nervous Activity and Neurophysiology Russian Academy of Sciences) ;
Fominykh, Vera (Institute of Higher Nervous Activity and Neurophysiology Russian Academy of Sciences) ;
Demeshonok, Vera (ALS-Care Center, 'GAOORDI', Medical Clinic of the St. Petersburg) ;
Ataulina, Anastasia (Bujanov Moscow Clinical Hospital) ;
Rogelj, Boris (University of Ljubljana) ;
Koritnik, Blaž (University Medical Centre Ljubljana.) ;
Zidar, Janez (University Medical Centre Ljubljana) ;
Ravnik-Glavač, Metka (University of Ljubljana.) ;
Glavač, Damjan (University of Ljubljana) ;
Stević, Zorica (University of Belgrade) ;
Drory, Vivian (Tel Aviv University) ;
Povedano, Monica (Hospital Universitari de Bellvitge) ;
Blair, Ian P. (Macquarie University) ;
Kiernan, Matthew C. (University of Sydney) ;
Benyamin, Beben (University of South Australia) ;
Henderson, Robert D. (Royal Brisbane and Women's Hospital) ;
Furlong, Sarah (Macquarie University) ;
Mathers, Susan (Calvary Health Care Bethlehem) ;
McCombe, Pamela A. (University of Queensland) ;
Needham, Merrilee (Murdoch University) ;
Ngo, Shyuan T. (University of Queensland) ;
Nicholson, Garth A. (Concord Repatriation General Hospital) ;
Pamphlett, Roger (University of Sydney) ;
Rowe, Dominic B. (Macquarie University) ;
Steyn, Frederik J. (University of Queensland) ;
Williams, Kelly (Macquarie University) ;
Mather, Karen A. (Neuroscience Research Australia Institute) ;
Sachdev, Perminder S. (Neuropsychiatric Institute) ;
Henders, Anjali K. (University of Queensland. Institute for Molecular Bioscience) ;
Wallace, Leanne (University of Queensland. Institute for Molecular Bioscience) ;
De Carvalho, Mamede (Universidade de Lisboa) ;
Pinto, Susana (Universidade de Lisboa) ;
Petri, Susanne (Hannover Medical School) ;
Weber, Markus (Kantonsspital St. Gallen) ;
Rouleau, Guy A. (McGill University) ;
Silani, Vincenzo (Università degli Studi di Milano) ;
Curtis, Charles J. (King's College London) ;
Breen, Gerome (King's College London.) ;
Glass, Jonathan D. (Emory University School of Medicine) ;
Brown, Robert H. (University of Massachusetts Medical School) ;
Landers, John E. (University of Massachusetts Medical School) ;
Shaw, Christopher E. (King's College London) ;
Andersen, Peter Munch (Umeå University) ;
Groen, Ewout J. N. (Utrecht University) ;
van Es, Michael A. (Utrecht University) ;
Pasterkamp, R. Jeroen (Utrecht University) ;
Fan, Dongsheng (Peking University) ;
Garton, Fleur C. (University of Queensland) ;
McRae, Allan F. (University of Queensland) ;
Smith, George Davey (Bristol Medical School) ;
Gaunt, Tom (Bristol Medical School) ;
Eberle, Michael A. (Illumina) ;
Mill, Jonathan (University of Exeter) ;
McLaughlin, Russell L. (Trinity College Dublin) ;
Hardiman, Orla (Trinity College Dublin) ;
Kenna, Kevin P. (Utrecht University) ;
Wray, Naomi R. (University of Queensland) ;
Tsai, Ellen (Biogen) ;
Runz, Heiko (Biogen. Translational Biology) ;
Franke, Lude (University Medical Centre Groningen) ;
Al-Chalabi, Ammar (King's College Hospital NHS Foundation Trust) ;
Van Damme, Philip (University Hospitals Leuven (Bèlgica)) ;
van den Berg, Leonard H. (Utrecht University) ;
Veldink, Jan (Utrecht University) ;
Universitat Autònoma de Barcelona
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. [...]
2021 - 10.1038/s41588-021-00973-1
Nature genetics, Vol. 53 (december 2021) , p. 1636-1648
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8.
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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, Niccolo 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 W. (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. (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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