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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 (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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16 p, 3.4 MB |
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
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Salpietro, Vincenzo (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ;
Dixon, Christine L. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Guo, Hui (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ;
Bello, Oscar D. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Vandrovcova, Jana (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Efthymiou, Stephanie (University College London) ;
Maroofian, Reza (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Heimer, Gali (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ;
Burglen, Lydie (Centre de Référence des Malformations et Maladies Congénitales du Cervelet. Département de Génétique et Embryologie Médicale. APHP. Hôpital Trousseau) ;
Valence, Stephanie (Centre de Référence des Malformations et Maladies Congénitales du Cervelet. Service de Neurologie Pédiatrique. APHP. Hôpital Trousseau) ;
Torti, Erin (GeneDx) ;
Hacke, Moritz (Biochemistry Center. Heidelberg University) ;
Rankin, Julia (Royal Devon and Exeter NHS Foundation Trust) ;
Tariq, Huma (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Colin, Estelle (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ;
Procaccio, Vincent (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ;
Striano, Pasquale (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ;
Mankad, Kshitij (Great Ormond Street Hospital for Children (Londres)) ;
Lieb, Andreas (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Chen, Sharon (Division of Medical Genetics. Northwell Health/Hofstra University SOM) ;
Pisani, Laura (Division of Medical Genetics. Northwell Health/Hofstra University SOM) ;
Bettencourt, Conceição (UCL Institute of Neurology (Regne Unit)) ;
Männikkö, Roope (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Manole, Andreea (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Brusco, Alfredo (Department of Medical Sciences. Medical Genetics Unit. University of Torino) ;
Grosso, Enrico (Department of Medical Sciences. Medical Genetics Unit. University of Torino) ;
Ferrero, Giovanni Battista (Department of Public Health and Pediatrics. University of Torino) ;
Armstrong, Judith (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Gueden, Sophie (Unit of Neuropediatrics. University Hospital) ;
Bar-Yosef, Omer (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ;
Tzadok, Michal (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ;
Monaghan, Kristin G. (GeneDx) ;
Santiago-Sim, Teresa (GeneDx) ;
Person, Richard E. (GeneDx) ;
Cho, Megan T. (GeneDx) ;
Willaert, Rebecca (GeneDx) ;
Yoo, Kristin (Department of Biomedical Sciences. Seoul National University) ;
Chae, Jong-Hee (Department of Pediatrics. Seoul National University) ;
Quan, Yingting (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ;
Wu, Huidan (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ;
Wang, Tianyun (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ;
Bernier, Raphael A. (Department of Psychiatry. University of Washington) ;
Xia, Kun (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ;
Blesson, Alyssa (Center for Autism and Related Disorders. Kennedy Krieger Institute) ;
Jain, Mahim (Center for Autism and Related Disorders. Kennedy Krieger Institute) ;
Motazacker, Mohammad M. (Department of Clinical Genetics. University of Amsterdam) ;
Jaeger, Bregje (Department of Pediatric Neurology. Amsterdam UMC) ;
Schneider, Amy L. (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ;
Boysen, Katja (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ;
Muir, Alison M. (Department of Pediatrics. University of Washington) ;
Myers, Candance T. (Department of Pediatrics. Division of Genetic Medicine. University of Washington) ;
Gavrilova, Ralitza H. (Department of Clinical Genomics. Mayo Clinic) ;
Gunderson, Lauren (Department of Clinical Genomics. Mayo Clinic) ;
Schultz-Rogers, Laura (Department of Clinical Genomics. Mayo Clinic) ;
Klee, Eric W. (Department of Clinical Genomics. Mayo Clinic) ;
Dyment, David (Children's Hospital of Eastern Ontario Research Institute. University of Ottawa) ;
Osmond, Matthew (Genome Québec Innovation Center) ;
Parellada, Mara (Hospital General Universitario Gregorio Marañón) ;
Llorente, Cloe (Hospital General Universitario Gregorio Marañón) ;
González-Peñas, Javier (Hospital General Universitario Gregorio Marañón) ;
Carracedo, Ángel (Fundación Pública Galega de Medicina Xenómica) ;
Van Haeringen, Arie (Department of Clinical Genetics. Leiden University Medical Center) ;
Ruivenkamp, Claudia (Department of Clinical Genetics. Leiden University Medical Center) ;
Nava, Caroline (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ;
Heron, Delphine (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ;
Nardello, Rosaria (Department of Health Promotion,Mother and Child Care. Internal Medicine and Medical Specialities "G. D'Alessandro". University of Palermo) ;
Iacomino, Michele (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Minetti, Carlo (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ;
Skabar, Aldo (Institute for Maternal and Child Health. IRCCS "Burlo Garofolo". University of Trieste) ;
Fabretto, Antonella (Institute for Maternal and Child Health. IRCCS "Burlo Garofolo". University of Trieste) ;
Hanna, Michael (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Bugiardini, Enrico (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Hostettler, Isabel Charlotte (UCL Queen Square Institute of Neurology (Regne Unit)) ;
O'Callaghan, Benjamin (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Khan, Alaa (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Cortese, Andrea (UCL Queen Square Institute of Neurology (Regne Unit)) ;
O'Connor, Emer (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Yau, Wai Y. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Bourinaris, Thomas (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Kaiyrzhanov, Rauan (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Chelban, Viorica (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Madej, Monika (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Diana, Maria C. (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ;
Vari, Maria S. (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ;
Pedemonte, Marina (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ;
Bruno, Claudio (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ;
Balagura, Ganna (University of Genoa. Department of Neurosciences) ;
Scala, Marcello (University of Genoa. Department of Neurosciences) ;
Fiorillo, Chiara (University of Genoa. Department of Neurosciences) ;
Nobili, Lino (University of Genoa. Department of Neurosciences) ;
Malintan, Nancy T. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Zanetti, Maria N. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Krishnakumar, Shyam S. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Lignani, Gabriele (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Jepson, James E. C. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Broda, Paolo (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Baldassari, Simona (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Rossi, Pia (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Fruscione, Floriana (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Madia, Francesca (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Traverso, Monica (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
De-Marco, Patrizia (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron) ;
Munell Casadesus, Francina (Hospital Universitari Vall d'Hebron) ;
Kriouile, Yamna (Children's Hospital of Rabat. University of Rabat) ;
El-Khorassani, Mohamed (Children's Hospital of Rabat. University of Rabat) ;
Karashova, Blagovesta (Department of Paediatrics. Medical University of Sofia) ;
Avdjieva, Daniela (Department of Paediatrics. Medical University of Sofia) ;
Kathom, Hadil (Department of Paediatrics. Medical University of Sofia) ;
Tincheva, Radka (Department of Paediatrics. Medical University of Sofia) ;
Van-Maldergem, Lionel (Centre of Human Genetics. University Hospital Liege) ;
Nachbauer, Wolfgang (Department of Neurology. Medical University Innsbruck) ;
Boesch, Sylvia (Department of Neurology. Medical University Innsbruck) ;
Gagliano, Antonella (Ospedale Pediatrico "A. Cao". Department of Biomedical Sciences. University of Cagliari) ;
Amadori, Elisabetta (Child and Adolescent Neuropsychiatry. University of Campania "Luigi Vanvitelli") ;
Goraya, Jatinder S. (Division of Paediatric Neurology. Dayanand Medical College & Hospital) ;
Sultan, Tipu (Department of Paediatric Neurology. Children's Hospital of Lahore) ;
Kirmani, Salman (Department of Medical Genetics. Aga Khan University Hospital. Karachi) ;
Ibrahim, Shahnaz (Department of Paediatric Neurology. Aga Khan University Hospital. Karachi) ;
Jan, Farida (Department of Paediatric Neurology. Aga Khan University Hospital. Karachi) ;
Mine, Jun (Department of Pediatrics. Shimane University School of Medicine) ;
Banu, Selina (Institute of Child Health and Shishu Shastho Foundation Hospital) ;
Veggiotti, Pierangelo (Vittore Buzzi Children's Hospital) ;
Zuccotti, Gian V. (Vittore Buzzi Children's Hospital) ;
Ferrari, Michel D.. (Leiden University Medical Center) ;
Van Den Maagdenberg, Arn M. J. (Leiden University Medical Center) ;
Verrotti, Alberto (Paediatric Department. San Salvatore Hospital. University of L'Aquila) ;
Marseglia, Gian Luigi (Department of Pediatrics. University of Pavia. IRCCS Policlinico "San Matteo") ;
Savasta, Salvatore (Department of Pediatrics. University of Pavia. IRCCS Policlinico "San Matteo") ;
Soler, Miguel A. (Computational Modelling of Nanoscale and Biophysical systems Laboratory. Italian Institute of Technology) ;
Scuderi, Carmela (Laboratorio di Neuropatologia Clinica. U.O.S. Malattie. Neuromuscolari Associazione OASI Maria SS. ONLUS - IRCCS) ;
Borgione, Eugenia (Laboratorio di Neuropatologia Clinica. U.O.S. Malattie. Neuromuscolari Associazione OASI Maria SS. ONLUS - IRCCS) ;
Chimenz, Roberto (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ;
Gitto, Eloisa (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ;
Dipasquale, Valeria (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ;
Sallemi, Alessia (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ;
Fusco, Monica (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ;
Cuppari, Caterina (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ;
Cutrupi, Maria C. (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ;
Ruggieri, Martino (Department of Clinical and Experimental Medicine. Section of Pediatrics and Child Neuropsychiatry. University of Catania) ;
Cama, Armando (Department of Neurosurgery. IRCCS Istituto Giannina Gaslini) ;
Capra, Valeria (Department of Neurosurgery. IRCCS Istituto Giannina Gaslini) ;
Mencacci, Niccolò Emanuele (Department of Neurology. Northwestern University Feinberg School of Medicine) ;
Boles, Richard (Courtagen Life Sciences) ;
Gupta, Neerja (All India Institute of Medical Sciences (Nova Delhi, Índia)) ;
Kabra, Madhulika (All India Institute of Medical Sciences (Nova Delhi, Índia)) ;
Papacostas, Savvas (The Cyprus Institute of Neurology and Genetics) ;
Zamba-Papanicolaou, Eleni (The Cyprus Institute of Neurology and Genetics) ;
Dardiotis, Efthimios (General University Hospital of Larissa (Grècia)) ;
Maqbool, Shazia (Department of Developmental and Behavioral Pediatrics. Children Hospital Complex and Institute of Child Health) ;
Rana, Nuzhat (Department of Pediatric Neurology. Children Hospital Complex and Institute of Child Health) ;
Atawneh, Osama (Hilal Pediatric Hospital Hebron. Hebron. West Bank) ;
Lim, Shen Y. (Department of Biomedical Science. Faculty of Medicine. University of Malaysia) ;
Shaikh, Mohmad Farooq (Jeffrey Cheah School of Medicine and Health Sciences. Monash University Malaysia) ;
Koutsis, George (Neurogenetics Unit. Neurology Department. Eginition Hospital. National and Kapodistrian University) ;
Breza, Marianthi (Neurogenetics Unit. Neurology Department. Eginition Hospital. National and Kapodistrian University) ;
Coviello, Domenico (Laboratorio di Genetica Umana. IRCCS Istituto Giannina Gaslini) ;
Dauvilliers, Yves (University Hospital of Montpellier (França)) ;
AlKhawaja, Issam (Albashir University Hospital) ;
AlKhawaja, Mariam (Prince Hamzah Hospital. Ministry of Health) ;
Al-Mutairi, Fuad (King Saud University) ;
Stojkovic, Tanya (Institute of Myology. Hôpital La Pitié Salpêtrière) ;
Ferrucci, Veronica (CEINGE. Biotecnologie Avanzate S.c.a.rl.) ;
Zollo, Massimo (CEINGE. Biotecnologie Avanzate S.c.a.rl.) ;
Alkuraya, Fowzan S (King Faisal Specialist Hospital and Research Centre (Aràbia Saudita)) ;
Kinali, Maria (The Portland Hospital) ;
Sherifa, Hamed (Assiut University Hospital) ;
Benrhouma, Hanene (Research Unit UR12 SP24. Department of Child and Adolescent Neurology. National Institute Mongi Ben Hmida of Neurology) ;
Turki, Ilhem B. Y. (Research Unit UR12 SP24. Department of Child and Adolescent Neurology. National Institute Mongi Ben Hmida of Neurology) ;
Tazir, Meriem (Laboratoire de Recherche en Neurosciences. Service de Neurologie) ;
Obeid, Makram (Department of Anatomy. Cell Biology and Physiology. American University of Beirut Medical Center) ;
Bakhtadze, Sophia (Department of Child Neurology. Tbilisi State Medical University) ;
Saadi, Marianthi W. (Baghdad College of Medicine. Children Welfare Teaching Hospital) ;
Zaki, Maha (Human Genetics and Genome Research Division. National Research Centre) ;
Triki, Chahnez C. (Child Neurology Department. Hedi Chaker hospital- Sfax Tunisia) ;
Benfenati, Fabio (Istituto Italiano di Tecnologia) ;
Gustincich, Stefano (Istituto Italiano di Tecnologia) ;
Kara, Majdi (Paediatric Neurology Unit. Department of Pediatrics. University of Tripoli) ;
Belcastro, Vincenzo (Neurology Unit. S. Anna Hospital) ;
Specchio, Nicola (Ospedale Pediatrico Bambino Gesù (Roma, Itàlia)) ;
Capovilla, Giuseppe (Child Neuropsychiatry Department. Epilepsy Center. C. Poma Hospital) ;
Karimiani, Ehsan G. (Genetics Research Centre. Molecular and Clinical Sciences Institute. St George's. University of London. Cranmer Terrace) ;
Salih, Ahmed M. (Medical University of Duhok) ;
Okubadejo, Njideka (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ;
Ojo, Oluwadamilola (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ;
Oshinaike, Olajumoke O. (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ;
Oguntunde, Olapeju (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ;
Wahab, Kolawole Wasiu (University of Ilorin Teaching Hospital (UITH)) ;
Bello, Abiodun H. (University of Ilorin Teaching Hospital (UITH)) ;
Abubakar, Sanni (Ahmadu Bello University) ;
Obiabo, Yahaya (Delta State University Teaching Hospital) ;
Nwazor, Ernest (Federal Medical Centre) ;
Ekenze, Oluchi (University of Nigeria Teaching Hospital) ;
Williams, Uduak (University of Calabar Teaching Hospital) ;
Iyagba, Alagoma (University of Port Harcourt Teaching Hospital) ;
Taiwo, Lolade (Babcock University. Ilishan. Remo & Federal Medical Centre) ;
Komolafe, Morenikeji (Obafemi Awolowo University Teaching Hospital (OAUTH)) ;
Senkevich, Konstantin (Pavlov First Saint Petersburg State Medical University) ;
Shashkin, Chingiz (Kazakh National State University) ;
Zharkynbekova, Nazira (Shymkent Medical Academy) ;
Koneyev, Kairgali (Kazakh National State University) ;
Manizha, Ganieva (Avicenna Tajik State Medical University) ;
Isrofilov, Maksud (Avicenna Tajik State Medical University) ;
Guliyeva, Ulviyya (Mediclub clinic) ;
Salayev, Kamran (Azerbaijan State Medical University) ;
Khachatryan, Samson G. ("Somnus" Neurology Clinic Sleep and Movement Disorders Center) ;
Rossi, Salvatore (Department of Neurology. Università Cattolica del Sacro Cuore) ;
Silvestri, Gabriella (Department of Neurology. Università Cattolica del Sacro Cuore) ;
Haridy, Nourelhoda A. (Department of Neurology and Psychiatry. Assuit University Hospital) ;
Ramenghi, Luca A. (Neonatal Intensive Care Unit. Istituto Giannina Gaslini) ;
Xiromerisiou, Georgia (Department of Neurology. Medical School. University of Thessaly) ;
David, Emanuele (Radiology Unit. Papardo Hospital. Viale Ferdinando Stagno d'Alcontres. Contrada Papardo) ;
Aguennouz, M'hammed (Unit of Neurology and Neuromuscular Diseases. Department of Clinical and Experimental Medicine. University of Messina) ;
Fidani, Lliana (Department of Biology. Medical School. Aristotle University) ;
Spanaki, Cleanthe (Department of Neurology. Medical School. University of Crete) ;
Tucci, Arianna (William Harvey Research Institute. The NIHR Biomedical Research Centre at Barts. Queen Mary University London) ;
Raspall-Chaure, Miquel (Hospital Universitari Vall d'Hebron) ;
Chez, Michael (Neuroscience Medical Group. 1625 Stockton Boulevard. Suite 104) ;
Tsai, Anne (Department of Genetics and Inherited Metabolic diseases. Children's Hospital Colorado) ;
Fassi, Emily (Department of Pediatrics. Washington University School of Medicine) ;
Shinawi, Marwan (Department of Pediatrics. Washington University School of Medicine) ;
Constantino, John N. (William Greenleaf Eliot Division of Child & Adolescent Psychiatry. Department of Psychiatry. Washington University School of Medicine) ;
De Zorzi, Rita (Department of Chemical and Pharmaceutical Sciences. University of Trieste) ;
Fortuna, Sara (Department of Chemical and Pharmaceutical Sciences. University of Trieste) ;
Kok, Fernando (Mendelics Genomic Analysis) ;
Keren, Boris (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ;
Bonneau, Dominique (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ;
Choi, Murim (Department of Biomedical Sciences. Seoul National University) ;
Benzeev, Bruria (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ;
Zara, Federico (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Mefford, Heather C. (Department of Pediatrics. University of Washington) ;
Scheffer, Ingrid E. (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ;
Clayton-Smith, Jill (Division of Evolution and Genomic Sciences. School of Biological Sciences. University of Manchester) ;
Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron) ;
Rothman, James E. (Department of Cell Biology. Yale University School of Medicine) ;
Eichler, Evan E (Howard Hughes Medical Institute. University of Washington) ;
Kullmann, Dimitri M. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Houlden, Henry (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Universitat Autònoma de Barcelona
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca-impermeable, with a linear relationship between current and trans-membrane voltage. [...]
2019 - 10.1038/s41467-019-10910-w
Nature communications, Vol. 10 Núm. 1 (january 2019) , p. 3094
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