Browsing by Author "Cormand, Bru"

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  • Urreizti, Roser; Cueto González, Anna María; Franco Valls, Héctor; Mort Farre, Sílvia; Roca Ayats, Neus; Ponomarenko, Julia; Cozzuto, Luca; Company, Carlos; Bosio, Mattia; Ossowski, Stephan; Montfort, Magda; Hecht, Jochen; Tizzano, Eduardo F.; Cormand, Bru; Vilageliu, Lluïsa; Opitz, John M.; Neri, Giovanni; Grinberg, Daniel; Balcells, Susana (Nature Publishing Group, 2017)
    Opitz trigonocephaly C syndrome (OTCS) is a rare genetic disorder characterized by craniofacial anomalies, variable intellectual and psychomotor disability, and variable cardiac defects with a high mortality rate. Different ...
  • Fernández Castillo, Noelia; Orejarena Serrano, María-Juliana, 1980-; Ribasés, Marta; Casas, Miguel; Robledo, Patricia, 1958-; Maldonado, Rafael, 1961-; Cormand, Bru (Wiley-Blackwell, 2012)
    3,4-Methylenedioxymethamphetamine (MDMA, 'ecstasy') is a recreational drug widely used by adolescents and young adults. Although its rewarding effects are well established, there is controversy on its addictive potential. ...
  • Martín García, Elena, 1975-; Fernández Castillo, Noelia; Burokas, Aurelijus, 1982-; Gutiérrez Cuesta, Javier; Sánchez-Mora, Cristina; Casas, Miguel; Ribasés, Marta; Cormand, Bru; Maldonado, Rafael, 1961- (Wiley, 2015)
    Frustration represents a particular aspect of the addictive process that is related to loss of control when the expected reward is not obtained. We aim to study the consequences of frustrated expected reward on gene ...
  • Thomson, Timothy M.; Lozano, Juan José; Loukili, Noureddine; Carrió, Roberto; Serras Rigalt, Florenci; Cormand, Bru; Valeri, Marta; Díaz, Víctor M.; Abril Ferrando, Josep Francesc; Burset Albareda, Moisès; Merino, Jesús; Macaya, Alfons; Corominas Guiu, Montserrat; Guigó Serra, Roderic (Cold Spring Harbor Laboratory Press-CSHL Press, 2000)
    UEV proteins are enzymatically inactive variants of the E2 ubiquitin-conjugating enzymes that regulate noncanonical elongation of ubiquitin chains. In Saccharomyces cerevisiae, UEV is part of the RAD6-mediated error-free ...
  • Garcia Martínez, Iris; Sánchez-Mora, Cristina; Soler Artigas, María; Rovira, Paula; Pagerols, Mireia; Corrales, Montse; Calvo Sánchez, Eva; Richarte, Vanesa; Bustamante Pineda, Mariona; Sunyer Deu, Jordi; Cormand, Bru; Casas, Miguel; Ramos Quiroga, Josep Antoni; Ribasés, Marta (Nature Publishing Group, 2017)
    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. ...
  • Sintas, Cèlia; Carreño, Oriel; Fernández Castillo, Noelia; Corominas, Roser; Vila Pueyo, Marta; Toma, Claudio; Cuenca-León, Ester; Barroeta, Isabel; Roig, Carles; Volpini, Victor; Macaya, Alfons; Cormand, Bru (Nature Publishing Group, 2017)
    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 ...
  • Carreño, Oriel; Corominas, Roser; Serra Pascual, Selma A., 1981-; Sintas, Cèlia; Fernández Castillo, Noelia; Vila Pueyo, Marta; Toma, Claudio; Gené, Gemma; Pons, Roser; Llaneza, Miguel; Sobrido, María Jesús; Grinberg, Daniel; Valverde, M. A. (Miguel Ángel), 1963-; Fernández-Fernández, José Manuel, 1967-; Macaya, Alfons; Cormand, Bru (Wiley, 2013)
    Hemiplegic migraine (HM) is a rare and severe subtype of autosomal dominant migraine, characterized by a complex aura including some degree of motor weakness. Mutations in four genes (CACNA1A, ATP1A2, SCN1A and PRRT2) have ...