1.
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14 p, 2.1 MB |
A Protein Misfolding Shaking Amplification-based method for the spontaneous generation of hundreds of bona fide prions
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Eraña, Hasier (ATLAS Molecular Pharma S. L) ;
Sampedro-Torres-Quevedo, Cristina (Basque Research and Technology Alliance) ;
Charco, Jorge M. (ATLAS Molecular Pharma S. L) ;
Díaz-Domínguez, Carlos M. (Instituto de Salut Carlos III. Centro de Investigación Biomédica en Red de Enfermedades infecciosas) ;
Peccati, Francesca (Basque Research and Technology Alliance) ;
San-Juan-Ansoleaga, Maitena (Basque Research and Technology Alliance) ;
Vidal Barba, Enric (Unitat mixta d'investigació IRTA-UAB en Sanitat Animal. Centre de Recerca en Sanitat Animal) ;
Gonçalves-Anjo, Nuno (Basque Research and Technology Alliance) ;
Pérez-Castro, Miguel A. (Basque Research and Technology Alliance) ;
González-Miranda, Ezequiel (Basque Research and Technology Alliance) ;
Piñeiro, Patricia (Basque Research and Technology Alliance) ;
Fernández-Veiga, Leire (Basque Research and Technology Alliance) ;
Galarza-Ahumada, Josu (Basque Research and Technology Alliance) ;
Fernández-Muñoz, Eva (Basque Research and Technology Alliance) ;
Pérez de Nanclares, Guiomar (Hospital Universitario de Araba Molecular (Epi)Genetics Laboratory) ;
Telling, Glenn (Colorado State University. Prion Research Center) ;
Geijo, Maria V (NEIKER-Basque Institute for Agricultural Research and Development) ;
Jiménez-Osés, Gonzalo (Basque Foundation for Science) ;
Castilla, Joaquín (Basque Foundation for Science)
Prion diseases are a group of rapidly progressing neurodegenerative disorders caused by the misfolding of the endogenous prion protein (PrP C) into a pathogenic form (PrP Sc). This process, despite being the central event underlying these disorders, remains largely unknown at a molecular level, precluding the prediction of new potential outbreaks or interspecies transmission incidents. [...]
2024 - 10.1038/s41467-024-46360-2
Nature communications, Vol. 15 (march 2024)
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2.
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7 p, 660.3 KB |
Clinical characteristics of patients with central nervous system relapse in BCR-ABL1-positive acute lymphoblastic leukemia : the importance of characterizing ABL1 mutations in cerebrospinal fluid
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Sanchez, R. (Hospital 12 de Octubre (Madrid)) ;
Ayala, Rosa (Hospital 12 de Octubre (Madrid)) ;
Alonso, R.A. (Hospital 12 de Octubre (Madrid)) ;
Martínez, M.P. (Hospital 12 de Octubre (Madrid)) ;
Ribera, Jordi (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
García, Olga (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Sanchez-Pina, J. (Hospital 12 de Octubre (Madrid)) ;
Mercadal, S. (ICO-Hospital Duran i Reynals (Bellvitge)) ;
Montesinos, P. (Hospital Universitari i Politècnic La Fe de València) ;
Martino Bofarull, Rodrigo (Institut d'Investigació Biomèdica Sant Pau) ;
Barba, Pere (Hospital Universitari Vall d'Hebron) ;
González-Campos, J. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Barrios, M. (Hospital Regional Universitario Carlos Haya (Málaga)) ;
Lavilla, E. (Hospital Universitario Lucus Augusti (Lugo)) ;
Gil, C. (Hospital General Universitario de Alicante (Alacant, País Valencià)) ;
Bernal, T. (Hospital Universitario Central de Asturias) ;
Escoda, L. (Hospital Universitari Joan XXIII de Tarragona) ;
Abella Monreal, Eugenia (Hospital del Mar (Barcelona, Catalunya)) ;
Amigo, María-Luz (Hospital General Universitario Morales Meseguer (Múrcia)) ;
Moreno, M.J. (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Bravo, P. (Hospital de Fuenlabrada) ;
Guàrdia, R. (Hospital Universitari de Girona Doctor Josep Trueta) ;
Hernández-Rivas, J.M. (Hospital Universitario de Salamanca) ;
García-Guiñón, A. (Hospital Universitari Arnau de Vilanova) ;
Piernas, Sonia (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Ribera, José Maria (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Martínez-López, J. (Hospital 12 de Octubre (Madrid)) ;
Universitat Autònoma de Barcelona
We investigated the frequency, predictors, and evolution of acute lymphoblastic leukemia (ALL) in patients with CNS relapse and introduced a novel method for studying BCR-ABL1 protein variants in cDNA from bone marrow (BM) and cerebrospinal fluid (CSF) blast cells. [...]
2017 - 10.1007/s00277-017-3002-1
Annals of Hematology, Vol. 96 Núm. 7 (january 2017) , p. 1069-1075
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3.
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40 p, 6.4 MB |
Roadmap on nanomedicine for the central nervous system
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Ciofani, Gianni (Italian Institute of Technology) ;
Campisi, Marco (Polytechnic University of Turin) ;
Mattu, Clara (Polytechnic University of Turin) ;
Kamm, Roger D. (Massachusetts Institute of Technology) ;
Chiono, Valeria (Polytechnic University of Turin) ;
Raynold, Aji Alex Moothedathu (University of Coimbra) ;
Freitas, João S. (University of Coimbra) ;
Redolfi Riva, Eugenio (Scuola Superiore Sant'Anna) ;
Micera, Silvestro (Scuola Superiore Sant'Anna) ;
Pucci, Carlotta (Italian Institute of Technology) ;
Novio Vázquez, Fernando (Universitat Autònoma de Barcelona. Departament de Química) ;
Lorenzo Rivera, Julia (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Ruiz-Molina, Daniel (Institut Català de Nanociència i Nanotecnologia) ;
Sierri, Giulia (University of Milano-Bicocca) ;
Re, Francesca (University of Milano-Bicocca) ;
Wunderlich, Hannah (Technical University of Munich) ;
Kumari, Prachi (Technical University of Munich) ;
Kozielski, Kristen L. (Technical University of Munich) ;
Chami, Mounia (Institut de Pharmacologie Moléculaire et Cellulaire) ;
Marino, Attilio (Italian Institute of Technology) ;
Ferreira, Lino (University of Coimbra) ;
Universitat Autònoma de Barcelona.
Departament de Bioquímica i de Biologia Molecular
In recent years, a great deal of effort has been undertaken with regards to treatment of pathologies at the level of the central nervous system (CNS). Here, the presence of the blood-brain barrier acts as an obstacle to the delivery of potentially effective drugs and makes accessibility to, and treatment of, the CNS one of the most significant challenges in medicine. [...]
2023 - 10.1088/2515-7639/acab88
JPhys materials, Vol. 6, Issue 2 (April 2023) , art. 22501
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4.
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15 p, 7.2 MB |
Standardization of canine meningioma grading : Validation of new guidelines for reproducible histopathologic criteria
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Belluco, Sara (Université de Lyon) ;
Marano, G. (University of Milan. Department of Biomedical and Clinical Sciences "L. Sacco") ;
Lurier, T. (Université de Lyon) ;
Avallone, Giancarlo (Università di Bologna. Dipartimento di Scienze Mediche Veterinarie) ;
Brachelente, C. (Università degli Studi di Perugia. Dipartimento di Medicina Veterinaria) ;
Di Palma, S. (IDEXX Laboratories) ;
Rasotto, R. (Dick White Referrals. Station Farm) ;
Baiker, K. (University of Hong Kong. Department of Veterinary Clinical Sciences) ;
Beineke, Andreas (Stiftung Tierärztliche Hochschule Hannover) ;
Oevermann, A. (University of Bern. Division of Neurological Sciences) ;
Seehusen, F. (University of Zurich. Institute of Veterinary Pathology) ;
Sant'Ana, Fabiano (Universidade de Brasília. Laboratório de Diagnóstico Patológico Veterinário) ;
Boracchi, Patrizia (University of Milan. Department of Biomedical and Clinical Sciences "L. Sacco") ;
Pumarola i Batlle, Martí (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia Animals) ;
Mandara, M.T. (Università degli Studi di Perugia)
Canine meningiomas are currently graded using the human grading system. Recently published guidelines have adapted the human grading system for use in dogs. The goal of this study was to validate the new guidelines for canine meningiomas. [...]
2023 - 10.1111/vco.12932
Veterinary and Comparative Oncology, Vol. 21 Núm. 4 (december 2023) , p. 685-699
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5.
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12 p, 5.1 MB |
Standardisation of canine meningioma grading : Inter-observer agreement and recommendations for reproducible histopathologic criteria
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Belluco, Sara (Université de Lyon) ;
Marano, Giuseppe (University of Milan. Department of Biomedical and Clinical Sciences "L. Sacco") ;
Baiker, Kerstin (University of Nottingham. School of Veterinary Medicine and Science) ;
Beineke, Andreas (Stiftung Tierärztliche Hochschule Hannover) ;
Oevermann, Anna (University of Bern. Division of Neurological Sciences) ;
Seehusen, Frauke (Universität Zürich. Institut für Veterinärpathologie) ;
Boracchi, Patrizia (University of Milan. Department of Biomedical and Clinical Sciences "L. Sacco") ;
Pumarola i Batlle, Martí (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia Animals) ;
Mandara, Maria Teresa (Università degli Studi di Perugia. Dipartimento di Medicina Veterinaria)
The human grading system is currently applied to canine meningioma, although it has not been validated in dogs. The present study focused on standardising the human grading system applied to canine meningioma. [...]
2022 - 10.1111/vco.12802
Veterinary and Comparative Oncology, Vol. 20 Núm. 2 (june 2022) , p. 509-520
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6.
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13 p, 527.1 KB |
Autonomic response to walk tests is useful for assessing outcome measures in people with multiple sclerosis
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Kontaxis, Spyridon (Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina) ;
Laporta, Estela (Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina) ;
Garcia, Esther (Universitat Autònoma de Barcelona. Departament de Microelectrònica i Sistemes Electrònics) ;
Guerrero, Ana Isabel (Hospital Universitari Vall d'Hebron) ;
Zabalza, Ana (Hospital Universitari Vall d'Hebron) ;
Matteo, Martinis (Vita Salute San Raffaele University) ;
Lucia, Roselli (Vita Salute San Raffaele University) ;
Simblett, Sara (King's College London) ;
Weyer, Janice (RADAR-CNS Patient Advisory Board) ;
Hotopf, Matthew (King's College London) ;
Narayan, Vaibhav A. (Research and Development Information Technology) ;
Rashid, Zulqarnain (King's College London) ;
Folarin, Amos A. (University College London) ;
Dobson, Richard J. B. (University College London) ;
Buron, Mathias Due (Copenhagen University Hospital Rigshospitalet) ;
Leocani, Letizia (Vita Salute San Raffaele University) ;
Cummins, Nicholas (King's College London) ;
Vairavan, Srinivasan (Research and Development Information Technology) ;
Costa, Gloria Dalla (Vita Salute San Raffaele University) ;
Magyari, Melinda (Copenhagen University Hospital Rigshospitalet) ;
Sørensen, Per Soelberg (Copenhagen University Hospital Rigshospitalet) ;
Nos, Carlos (Hospital Universitari Vall d'Hebron) ;
Bailón, Raquel (Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina) ;
Comi, Giancarlo (Casa di Cura del Policlinico (Milà, Itàlia)) ;
the RADAR-CNS Consortium, None (The RADAR-CNS Consortium)
The aim of this study was to evaluate the association between changes in the autonomic control of cardiorespiratory system induced by walk tests and outcome measures in people with Multiple Sclerosis (pwMS). [...]
2023 - 10.3389/fphys.2023.1145818
Frontiers in physiology, Vol. 14 (april 2023)
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7.
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8.
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7 p, 858.2 KB |
Clinical and radiological characteristics and outcome of wake-up intracerebral hemorrhage
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Martí-Fàbregas, Joan (Institut d'Investigació Biomèdica Sant Pau) ;
Delgado Mederos, Raquel (Institut d'Investigació Biomèdica Sant Pau) ;
Martínez-Domeño, Alejandro (Institut d'Investigació Biomèdica Sant Pau) ;
Camps-Renom, Pol (Institut d'Investigació Biomèdica Sant Pau) ;
Guisado-Alonso, Daniel (Institut d'Investigació Biomèdica Sant Pau) ;
Guasch-Jiménez, Marina (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Marrero-González, Paula (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Jiménez-Xarrié, Elena (Institut d'Investigació Biomèdica Sant Pau) ;
Marín, Rebeca (Institut d'Investigació Biomèdica Sant Pau) ;
Prats-Sánchez, Luis Antonio (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
There is little information on the characteristics of patients with wake-up intracerebral hemorrhage (WU-ICH). We aimed to evaluate frequency and relevant differences between WU-ICH and while-awake (WA) ICH patients. [...]
2020 - 10.1038/s41598-020-75750-x
Scientific reports, Vol. 10 Núm. 1 (january 2020) , p. 18749
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9.
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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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10.
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7 p, 1.0 MB |
Genome-Wide Association Study of VKORC1 and CYP2C9 on acenocoumarol dose, stroke recurrence and intracranial haemorrhage in Spain
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Cullell, Natalia (Institut d'Investigació Biomèdica Sant Pau) ;
Carrera, Caty (Hospital Universitari Vall d'Hebron) ;
Muiño, Elena (Institut d'Investigació Biomèdica Sant Pau) ;
Torres-Aguila, Nuria P.. (Institut d'Investigació Biomèdica Sant Pau) ;
Cárcel-Márquez, Jara (Institut d'Investigació Biomèdica Sant Pau) ;
González-Sánchez, J. (Manchester Metropolitan University) ;
Gallego-Fabrega, Cristina (Institut d'Investigació Biomèdica Sant Pau) ;
Molina, J. (Hospital Universitari MútuaTerrassa/Fundacio Docència i Recerca MútuaTerrassa) ;
Besora, S. (Hospital Universitari MútuaTerrassa/Fundacio Docència i Recerca MútuaTerrassa) ;
Sotoca, J. (Hospital Universitari MútuaTerrassa/Fundacio Docència i Recerca MútuaTerrassa) ;
Buongiorno, María Teresa (Hospital Universitari MútuaTerrassa/Fundacio Docència i Recerca MútuaTerrassa) ;
Jiménez-Conde, Jordi (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Giralt Steinhauer, Eva (Institut Hospital del Mar d'Investigacions Mèdiques) ;
de Torres-Chacón, R. (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ;
Montaner, J. (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ;
Mancha, Fernando (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ;
Cabezas, Juan Antonio (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ;
Martí-Fàbregas, Joan (Institut d'Investigació Biomèdica Sant Pau) ;
Prats-Sánchez, Luis Antonio (Institut d'Investigació Biomèdica Sant Pau) ;
Camps-Renom, Pol (Institut d'Investigació Biomèdica Sant Pau) ;
Purroy, Francisco (Hospital Universitari Arnau de Vilanova) ;
Cambray, S. (Universitat de Lleida) ;
Freijo, M.d.M. (Hospital de Basurto (Bilbao, Biscaia)) ;
Vives-Bauzá, C. (Hospital Universitari Son Espases (Palma de Mallorca, Balears)) ;
Tur, S. (Hospital Universitari Son Espases (Palma de Mallorca, Balears)) ;
Font, M.À. (Hospital Moisès Broggi) ;
López-Cancio, Elena (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Hernández-Pérez, María (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Obach, Víctor (Hospital Clínic i Provincial de Barcelona) ;
Calleja, Ana (Hospital Clínico Universitario de Valladolid) ;
Arenillas, Juan F (Hospital Clínico Universitario de Valladolid) ;
Rodríguez-Yáñez, M. (Fundación Instituto de Investigación Sanitaria de Santiago [IDIS]) ;
Castillo, J. (Fundación Instituto de Investigación Sanitaria de Santiago [IDIS]) ;
Sobrino, T. (Fundación Instituto de Investigación Sanitaria de Santiago [IDIS]) ;
Fernandez-Cadenas, Israel (Institut d'Investigació Biomèdica Sant Pau) ;
Krupinski, J. (Manchester Metropolitan University) ;
Universitat Autònoma de Barcelona
Acenocoumarol is an oral anticoagulant with significant interindividual dose variations. Variants in CYP2C9 and VKORC1 have been associated with acenocoumarol maintenance dose. We analysed whether any of the 49 polymorphisms in CYP2C9 and VKORC1 previously associated with acenocoumarol maintenance dose in a Genome-Wide Association study (GWAs) in Dutch population are associated with stroke recurrence, intracranial haemorrhage (ICH) and acenocoumarol maintenance dose in a Spanish population. [...]
2020 - 10.1038/s41598-020-59641-9
Scientific reports, Vol. 10 Núm. 1 (january 2020) , p. 2806
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