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1.
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9 p, 262.4 KB |
Polygenic association between attention-deficit/hyperactivity disorder liability and cognitive impairments
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Vainieri, Isabella (Institute of Psychiatry (Regne Unit)) ;
Martin, Joanna (Cardiff University (Regne Unit)) ;
Rommel, Anna-Sophie (Public Health at the Icahn School of Medicine at Mount Sinai) ;
Asherson, Philip (King's College London) ;
Banaschewski, Tobias (University of Heidelberg) ;
Buitelaar, Jan (Radboud University Medical Centre) ;
Cormand, Bru (Institut de Recerca Sant Joan de Déu) ;
Crosbie, Jennifer (University of Toronto) ;
Faraone, Stephen V. (SUNY Upstate Medical University) ;
Franke, Barbara (Radboud University Medical Center) ;
Loo, Sandra K. (Semel Institute for Neuroscience and Human Behavior and David Geffen School of Medicine at UCLA) ;
Miranda, Ana (Universitat de València) ;
Manor, Iris (Tel-Aviv University) ;
Oades, Robert D. (University of Duisburg-Essen) ;
Purves, Kirstin L. (Institute of Psychiatry, Psychology and Neuroscience) ;
Ramos-Quiroga, Josep Antoni (Universitat Autònoma de Barcelona) ;
Ribasés Haro, Marta (Universitat de Barcelona) ;
Roeyers, Herbert (Ghent University) ;
Rothenberger, Aribert (University Medical Center Göttingen) ;
Schachar, Russell (University of Toronto) ;
Sergeant, Joseph (Vrije Universiteit) ;
Steinhausen, Hans-Christoph (Centre of Child and Adolescent Mental Health) ;
Vuijk, Pieter J. (Massachusetts General Hospital (Estats Units d'Amèrica)) ;
Doyle, Alysa E. (Harvard Medical School) ;
Kuntsi, Jonna (King's College London. Institute of Psychiatry, Psychology & Neuroscience)
A recent genome-wide association study (GWAS) identified 12 independent loci significantly associated with attention-deficit/hyperactivity disorder (ADHD). Polygenic risk scores (PRS), derived from the GWAS, can be used to assess genetic overlap between ADHD and other traits. [...]
2022 -  10.1017/S0033291720005218
Psychological Medicine, Vol. 52 (october 2022) , p. 3150-3158
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2.
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10 p, 835.6 KB |
A Highly Polymorphic Copy Number Variant in the NSF Gene is Associated with Cocaine Dependence
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Cabana-Domínguez, Judit (Institut de Recerca Sant Joan de Déu) ;
Roncero, Carlos (Universitat Autònoma de Barcelona. Departament de Psiquiatria i de Medicina Legal) ;
Grau-López, Lara (Hospital Universitari Vall d'Hebron) ;
Rodríguez-Cintas, Laia (Hospital Universitari Vall d'Hebron) ;
Barral, Carmen (Hospital Universitari Vall d'Hebron) ;
Abad, Alfonso Carlos (Hospital Universitari Vall d'Hebron) ;
Erikson, Galina (Scripps Translational Science Institute, La Jolla, CA, United States of America) ;
Wineinger, Nathan E. (Scripps Translational Science Institute, La Jolla, CA, United States of America) ;
Torrico, Bàrbara (Institut de Recerca Sant Joan de Déu) ;
Arenas, Concepció (Universitat de Barcelona. Departament de Genètica, Microbiologia i Estadística) ;
Casas Brugué, Miquel (Universitat Autònoma de Barcelona. Departament de Psiquiatria i de Medicina Legal) ;
Ribasés Haro, Marta (Hospital Universitari Vall d'Hebron) ;
Cormand, Bru (Institut de Recerca Sant Joan de Déu) ;
Fernàndez-Castillo, Noèlia (Institut de Recerca Sant Joan de Déu)
Cocaine dependence is a complex psychiatric disorder involving both genetic and environmental factors. Several neurotransmitter systems mediate cocaine's effects, dependence and relapse, being the components of the neurotransmitter release machinery good candidates for the disorder. [...]
2016 - 10.1038/srep31033
Scientific reports, Vol. 6 (august 2016)
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3.
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8 p, 1.0 MB |
Association of the PLCB1 gene with drug dependence
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Cabana-Domínguez, Judit (Institut de Recerca Sant Joan de Déu) ;
Roncero, Carlos (Hospital Universitari Vall d'Hebron) ;
Pineda-Cirera, Laura (Institut de Recerca Sant Joan de Déu) ;
Palma-Álvarez, Raúl Felipe (Hospital Universitari Vall d'Hebron) ;
Ros-Cucurull, Elena (Hospital Universitari Vall d'Hebron) ;
Grau-López, Lara (Hospital Universitari Vall d'Hebron) ;
Esojo, Abderaman (Hospital Universitari Vall d'Hebron) ;
Casas Brugué, Miquel (Hospital Universitari Vall d'Hebron) ;
Arenas, Concepció (Universitat de Barcelona. Departament de Genètica, Microbiologia i Estadística) ;
Ramos-Quiroga, Josep Antoni (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Ribasés Haro, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Fernàndez-Castillo, Noèlia (Institut de Recerca Sant Joan de Déu) ;
Cormand, Bru (Institut de Recerca Sant Joan de Déu) ;
Universitat Autònoma de Barcelona
Genetic factors involved in the susceptibility to drug addiction still remain largely unknown. MiRNAs seem to play key roles in the drug-induced plasticity of the brain that likely drives the emergence of addiction. [...]
2017 - 10.1038/s41598-017-10207-2
Scientific reports, Vol. 7 (august 2017)
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4.
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13 p, 1.9 MB |
Gene-wide Association Study Reveals RNF122 Ubiquitin Ligase as a Novel Susceptibility Gene for Attention Deficit Hyperactivity Disorder
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García-Martinez, Iris (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Sánchez-Mora, Cristina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Soler Artigas, María (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Rovira, Paula (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Pagerols, Mireia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Corrales, Montserrat (Universitat Autònoma de Barcelona. Departament de Psiquiatria i de Medicina Legal) ;
Calvo-Sánchez, Eva (Hospital Universitari Vall d'Hebron) ;
Richarte, Vanesa (Universitat Autònoma de Barcelona. Departament de Psiquiatria i de Medicina Legal) ;
Bustamante, Mariona (Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública) ;
Sunyer, Jordi (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Cormand, Bru (Institut de Recerca Sant Joan de Déu) ;
Casas Brugué, Miquel (Universitat Autònoma de Barcelona. Departament de Psiquiatria i de Medicina Legal) ;
Ramos-Quiroga, Josep Antoni (Universitat Autònoma de Barcelona. Departament de Psiquiatria i de Medicina Legal) ;
Ribasés Haro, Marta (Centro de Investigación Biomédica en Red de Salud Mental)
Attention Deficit Hyperactivity Disorder (ADHD) is a common childhood-onset neurodevelopmental condition characterized by pervasive impairment of attention, hyperactivity, and/or impulsivity that can persist into adulthood. [...]
2017 - 10.1038/s41598-017-05514-7
Scientific reports, Vol. 7 (july 2017)
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5.
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9 p, 2.4 MB |
Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia
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Sintas, Cèlia (Universitat de Barcelona. Institut de Biomedicina) ;
Carreño, Oriel (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Fernàndez-Castillo, Noèlia (Institut de Recerca Sant Joan de Déu) ;
Corominas, Roser (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Vila-Pueyo, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Toma, Claudio (University of New South Wales) ;
Cuenca-León, Ester (Broad Institute of MIT and Harvard) ;
Barroeta, Isabel (Institut d'Investigació Biomèdica Sant Pau) ;
Roig, Carles (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Volpini, Víctor (Institut d'Investigació Biomèdica de Bellvitge) ;
Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Cormand, Bru (Institut de Recerca Sant Joan de Déu)
Episodic ataxia is an autosomal dominant ion channel disorder characterized by episodes of imbalance and incoordination. The disease is genetically heterogeneous and is classified as episodic ataxia type 2 (EA2) when it is caused by a mutation in the CACNA1A gene, encoding the α subunit of the P/Q-type voltage-gated calcium channel Ca2. [...]
2017 - 10.1038/s41598-017-02554-x
Scientific reports, Vol. 7 (may 2017)
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6.
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11 p, 1005.6 KB |
Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder
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Pagerols, Mireia (Hospital Universitari Vall d'Hebron) ;
Richarte, Vanesa (Universitat Autònoma de Barcelona. Departament de Psiquiatria i de Medicina Legal) ;
Sánchez-Mora, Cristina (Hospital Universitari Vall d'Hebron) ;
Rovira, Paula (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Soler Artigas, María (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
García-Martinez, Iris (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Calvo-Sánchez, Eva (Hospital Universitari Vall d'Hebron) ;
Corrales, Montserrat (Universitat Autònoma de Barcelona. Departament de Psiquiatria i de Medicina Legal) ;
da Silva, Bruna Santos (Institute of Biosciences, Universidade Federal do Rio Grande do Sul) ;
Mota, Nina Roth (Hospital de Clínicas de Porto Alegre (Brasil)) ;
Moraes Victor, Marcelo (Hospital de Clínicas de Porto Alegre (Brasil)) ;
Rohde, Luis Augusto (Faculty of Medicine, Universidade Federal do Rio Grande do Sul) ;
Grevet, Eugenio Horacio (Faculty of Medicine, Universidade Federal do Rio Grande do Sul) ;
Bau, Claiton Henrique Dotto (Hospital de Clínicas de Porto Alegre (Brasil)) ;
Cormand, Bru (Institut de Recerca Sant Joan de Déu) ;
Casas Brugué, Miquel (Universitat Autònoma de Barcelona. Departament de Psiquiatria i de Medicina Legal) ;
Ramos-Quiroga, Josep Antoni (Universitat Autònoma de Barcelona. Departament de Psiquiatria i de Medicina Legal) ;
Ribasés Haro, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Methylphenidate (MPH) is the most frequently used pharmacological treatment in children with attention-deficit/hyperactivity disorder (ADHD). However, a considerable interindividual variability exists in clinical outcome. [...]
2018 - 10.1038/s41598-018-20194-7
Scientific reports, Vol. 8 (january 2018)
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7.
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12 p, 1.0 MB |
Risk variants and polygenic architecture of disruptive behavior disorders in the context of attention-deficit/hyperactivity disorder
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Demontis, Ditte (Aarhus University) ;
Walters, Raymond K. (Broad Institute of MIT and Harvard.) ;
Rajagopal, Veera M. (Aarhus University) ;
Waldman, Irwin D. (Emory University) ;
Grove, Jakob (Aarhus University) ;
Als, Thomas D. (Aarhus University) ;
Dalsgaard, Søren (Aarhus University) ;
Ribasés Haro, Marta (Universitat de Barcelona. Departament de Genètica, Microbiologia i Estadística) ;
Bybjerg-Grauholm, Jonas (Statens Serum Institut) ;
Bækvad-Hansen, Marie (Statens Serum Institut) ;
Werge, Thomas (University of Copenhagen) ;
Nordentoft, Merete (University of Copenhagen Medicine) ;
Mors, Ole (Aarhus University Hospital (Aarhus, Dinamarca)) ;
Mortensen, Preben Bo (Aarhus University) ;
Cormand, Bru (Institut de Recerca Sant Joan de Déu) ;
Hougaard, David M. (Statens Serum Institut) ;
Neale, Benjamin M. (Broad Institute of MIT and Harvard) ;
Franke, Barbara (Radboud University Medical Center) ;
Faraone, Stephen V. (SUNY Upstate Medical University) ;
Børglum, Anders D. (Aarhus University)
Attention-Deficit/Hyperactivity Disorder (ADHD) is a childhood psychiatric disorder often comorbid with disruptive behavior disorders (DBDs). Here, we report a GWAS meta-analysis of ADHD comorbid with DBDs (ADHD + DBDs) including 3802 cases and 31,305 controls. [...]
2021 - 10.1038/s41467-020-20443-2
Nature communications, Vol. 12 (january 2021)
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8.
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12 p, 620.2 KB |
Exploring the Contribution to ADHD of Genes Involved in Mendelian Disorders Presenting with Hyperactivity and/or Inattention
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Fernàndez-Castillo, Noèlia (Institut de Recerca Sant Joan de Déu) ;
Cabana-Domínguez, Judit (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Kappel, Djenifer B. (Cardiff University) ;
Torrico, Bàrbara (Institut de Recerca Sant Joan de Déu) ;
Weber, Heike (University Hospital Würzburg) ;
Lesch, Klaus-Peter (I.M Sechenov First Moscow State Medical University) ;
Lao, Oscar (Universitat Pompeu Fabra) ;
Reif, Andreas (University Hospital of Frankfurt (Alemanya)) ;
Cormand, Bru (Institut de Recerca Sant Joan de Déu) ;
Universitat Autònoma de Barcelona
Attention-deficit hyperactivity disorder (ADHD) is a complex neurodevelopmental disorder characterized by hyperactivity, impulsivity, and/or inattention, which are symptoms also observed in many rare genetic disorders. [...]
2021 - 10.3390/genes13010093
Genes, Vol. 13 (december 2021)
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9.
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11 p, 912.1 KB |
Identification of ADHD risk genes in extended pedigrees by combining linkage analysis and whole-exome sequencing
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Corominas Galbany, Jordi (Radboud University Medical Center) ;
Klein, Marieke (Radboud University Medical Center) ;
Zayats, Tetyana (University of Bergen) ;
Rivero, Olga (University of Würzburg) ;
Ziegler, Georg C. (University of Würzburg) ;
Pauper, Marc (Radboud University Medical Center) ;
Neveling, Kornelia (Radboud University Medical Center) ;
Poelmans, Geert (Radboud University Medical Center) ;
Jansch, Charline (University of Würzburg) ;
Svirin, Evgeniy (I.M. Sechenov First Moscow State Medical University) ;
Geissler, Julia (University Hospital of Würzburg) ;
Weber, Heike (University Hospital of Frankfurt (Alemanya)) ;
Reif, Andreas (University Hospital of Frankfurt (Alemanya)) ;
Arias-Vásquez, Alejandro (Radboud University Medical Center) ;
Galesloot, Tessel E. (Radboud University Medical Center) ;
Kiemeney, Lambertus A. L. M. (Radboud University Medical Center) ;
Buitelaar, Jan (Radboud University Medical Center) ;
Ramos-Quiroga, Josep Antoni (Universitat Autònoma de Barcelona. Departament de Psiquiatria i de Medicina Legal) ;
Cormand, Bru (Institut de Recerca Sant Joan de Déu) ;
Ribasés Haro, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Hveem, Kristian (Norwegian University of Science and Technology) ;
Gabrielsen, Maiken Elvestad (Norwegian University of Science and Technology) ;
Hoffmann, Per (University of Basel) ;
Cichon, Sven (University Hospital Basel (Basilea, Suïssa)) ;
Haavik, Jan (Haukeland University Hospital (Bergen, Noruega)) ;
Johansson, Stefan E (University of Bergen) ;
Jacob, Christian P. (University of Würzburg) ;
Romanos, Marcel (University Hospital of Würzburg) ;
Franke, Barbara (Radboud University Medical Center) ;
Lesch, Klaus-Peter (Maastricht University)
Attention-deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental disorder with a complex genetic background, hampering identification of underlying genetic risk factors. We hypothesized that combining linkage analysis and whole-exome sequencing (WES) in multi-generation pedigrees with multiple affected individuals can point toward novel ADHD genes. [...]
2018 - 10.1038/s41380-018-0210-6
Molecular psychiatry, Vol. 25 (august 2018) , p. 2047-2057
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10.
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10 p, 2.1 MB |
Shared genetic background between children and adults with attention deficit/hyperactivity disorder
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Rovira, Paula (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Demontis, Ditte (Center for Genomics and Personalized Medicine, Aarhus, Denmark) ;
Sánchez-Mora, Cristina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Zayats, Tetyana (Broad Institute of MIT and Harvard) ;
Klein, Marieke (University Medical Center Utrecht) ;
Mota, Nina Roth (Radboud University Medical Center. Department of Psychiatry, Donders Institute for Brain, Cognition, and Behaviour) ;
Weber, Heike (University Hospital of Frankfurt (Alemanya)) ;
García-Martinez, Iris (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Pagerols, Mireia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Vilar-Ribó, L (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Arribas, Lorena (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Richarte, Vanesa (Universitat Autònoma de Barcelona. Departament de Psiquiatria i de Medicina Legal) ;
Corrales, Montserrat (Universitat Autònoma de Barcelona. Departament de Psiquiatria i de Medicina Legal) ;
Fadeuilhe, Christian (Universitat Autònoma de Barcelona. Departament de Psiquiatria i de Medicina Legal) ;
Bosch, Rosa (Universitat Autònoma de Barcelona. Departament de Psiquiatria i de Medicina Legal) ;
Martin, Gemma Español (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Almos, Peter (University of Würzburg. Division of Molecular Psychiatry, Center of Mental Health) ;
Doyle, Alysa E. (Harvard Medical School. Department of Psychiatry) ;
Grevet, Eugenio Horacio (Universidade Federal do Rio Grande do Sul. Department of Psychiatry, Faculty of Medicine) ;
Grimm, Oliver (University Hospital of Frankfurt (Alemanya)) ;
Halmøy, Anne (Haukeland University Hospital (Bergen, Noruega)) ;
Hoogman, Martine (Radboud University Medical Center. Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour) ;
Hutz, Mara (Universidade Federal do Rio Grande do Sul. Department of Genetics, Institute of Biosciences) ;
Jacob, Christian P. (University of Würzburg. Division of Molecular Psychiatry, Center of Mental Health) ;
Kittel-Schneider, Sarah (University Hospital of Frankfurt (Alemanya)) ;
Knappskog, Per M. (University of Bergen. Department of Clinical Science) ;
Lundervold, Astri J. (University of Bergen. Department of Biological and Medical Psychology) ;
Rivero, Olga (University of Würzburg. Division of Molecular Psychiatry, Center of Mental Health) ;
Rovaris, Diego Luiz (University of São Paulo. Department of Physiology and Biophysics, Institute of Biomedical Sciences) ;
Salatino-Oliveira, Angelica (Universidade Federal do Rio Grande do Sul. Department of Genetics, Institute of Biosciences) ;
da Silva, Bruna Santos (Universidade Federal do Rio Grande do Sul. Department of Genetics, Institute of Biosciences) ;
Svirin, Evgeniy (IM Sechenov First Moscow State Medical University. Laboratory of Psychiatric Neurobiology, Institute of Molecular Medicine) ;
Sprooten, Emma (Radboud University Medical Centre. Department of Cognitive Neuroscience) ;
Strekalova, Tatyana (Maastricht University. Department of Neuroscience, School for Mental Health and Neuroscience (MHeNS)) ;
Arias-Vásquez, Alejandro (Radboud University Medical Center. Department of Psychiatry, Donders Institute for Brain, Cognition, and Behaviour) ;
Sonuga-Barke, Edmund J. S. (Aarhus University. Department of Child and Adolescent Psychiatry) ;
Asherson, Philip (King's College London. Institute of Psychiatry, Psychology & Neuroscience) ;
Bau, Claiton Henrique Dotto (Universidade Federal do Rio Grande do Sul. Department of Genetics, Institute of Biosciences) ;
Buitelaar, Jan (Karakter Child and Adolescent Psychiatry, Nijmegen, The Netherlands) ;
Cormand, Bru (Institut de Recerca Sant Joan de Déu) ;
Faraone, Stephen V. (SUNY Upstate Medical University. Departments of Psychiatry, of Neuroscience, and Physiology) ;
Haavik, Jan (Haukeland University Hospital (Bergen, Noruega)) ;
Johansson, Stefan E. (University of Bergen. Department of Clinical Science) ;
Kuntsi, Jonna (King's College London. Institute of Psychiatry, Psychology & Neuroscience) ;
Larsson, Henrik (Karolinska Institutet (Estocolm, Suècia). Department of Medical Epidemiology and Biostatistics) ;
Lesch, Klaus-Peter (Maastricht University. Department of Neuroscience, School for Mental Health and Neuroscience (MHeNS)) ;
Reif, Andreas (University Hospital of Frankfurt (Alemanya)) ;
Rohde, Luis Augusto (Hospital de Clínicas de Porto Alegre (Brasil)) ;
Casas Brugué, Miquel (Universitat Autònoma de Barcelona. Departament de Psiquiatria i de Medicina Legal) ;
Børglum, Anders D. (Center for Genomics and Personalized Medicine, Aarhus, Denmark) ;
Franke, Barbara (Radboud University Medical Center. Department of Psychiatry, Donders Institute for Brain, Cognition, and Behaviour) ;
Ramos-Quiroga, Josep Antoni (Universitat Autònoma de Barcelona. Departament de Psiquiatria i de Medicina Legal) ;
Soler Artigas, María (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Ribasés Haro, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Attention deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental disorder characterized by age-inappropriate symptoms of inattention, impulsivity, and hyperactivity that persist into adulthood in the majority of the diagnosed children. [...]
2020 - 10.1038/s41386-020-0664-5
Neuropsychopharmacology, Vol. 45 (april 2020) , p. 1617-1626
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