Recerca: Recent submissions
Now showing items 81-100 of 2499
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Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission
(Journal of inherited metabolic disease, 47(3), 551-569, 2024)The study of inborn errors of neurotransmission has been mostly focused on monoamine disorders, GABAergic and glycinergic defects. The study of the glutamatergic synapse using the same approach than ... -
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study
(Brain, 147 (5),1653-1666, 2024)GRIN-related disorders are rare developmental encephalopathies with variable manifestations and limited therapeutic options. Here, we present the first non-randomized, open-label, single-arm trial ... -
SIRT7 promotes lung cancer progression by destabilizing the tumor suppressor ARF
(Cell Biology Research in PNAS, 121 (25), e2409269121, 2024)Sirtuin 7 (SIRT7) is a member of the mammalian family of nicotinamide adenine dinucleotide (NAD+)-dependent histone/protein deacetylases, known as sirtuins. It acts as a potent oncogene in numerous ... -
Spermidine Treatment Improves GRIN2B Loss-Of-Function, A Primary Disorder of Glutamatergic Neurotransmission
(Journal Inherited Metabolic Disease, 48 (2), e70015, 2025)GRIN-related disorders (GRD) developmental and epileptic encephalopathies (DEEs) display a clinical spectrum including developmental delay, hypotonia, intellectual disability, epilepsy, and autistic ... -
The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation
(Scientific Reports, 15, 11843, 2025)X-linked sideroblastic anemia (XLSA) is a hereditary disorder affecting heme biosynthesis, caused by mutations in the ALAS2 gene, which encodes the erythroid-specific enzyme 5-aminolevulinate synthase. ... -
Missense variants pathogenicity annotation from homologous proteins
(Bioinformatics, 41(5), btaf305, 2025)fraction linked to disease. The effect of missense variants, which alter the protein sequence, is particularly challenging to interpret due to the scarcity of clinical annotations and experimental ... -
“People as normal as possible”. Analysis of the construction of subjects in materials for the prevention of gender violence among teenagers in Spain
(2023)In educational materials about the reality of gender violence among teenagers, there are many explicit and implicit choices when constructing the subjects. This study analyses how the figures of ... -
The species of Eilema Hübner, [1819] sensu lato present in Europe and North Africa (Lepidoptera: Erebidae: Arctiinae: Lithosiini)
(Zootaxa, 5191 (1), 001–087, 2022)The species of Eilema Hübner, [1819] sensu lato, present in Europe and North Africa, are studied on the basis of morphological characteristics and molecular genetics. Images of adults, genitalia of ... -
“I don’t want to be the Muslim lesbian idol”: experiences of queer women from Muslim backgrounds in Catalonia
(Journal of gender studies, 2025)This paper explores how four queer women from Muslim backgrounds in Catalonia navigate the intersections of gender, sexuality, and faith, challenging dominant narratives that position Muslim backgrounds ... -
Inclusión de chicas jóvenes en el deporte: Rompiendo barreras
(2025)Inclusión de chicas jóvenes en el deporte. Rompiendo barreras es una guía práctica que busca promover la participación de chicas vulnerables y con riesgo de ser excluidas del deporte competitivo. A pesar ... -
Darth Vader en pantuflas: infancia y juego como activadores del espacio doméstico confinado
(La ciudad dentro de casa: Formas de habitar y entender ’lo doméstico’, 2020) -
Game-Based Practices for Radical Urban Visions
(Handbook of Research on Promoting Economic and Social Development through Serious Games, 2022)The chapter explores disruptive uses of serious games to achieve radical urban visions through the presentation and critical discussion of three recent case studies developed in graduate and ... -
Prison Design: Between Pragmatic Engagement and the Dream of Decarceration
(The Palgrave Handbook of Prison Design, 2023)This chapter is a critical review of contemporary architectural practice in custodial design, using the cornerstone concept of critical prison design. The text is in three main sections. First, presenting ... -
Time: Modes of Urban Temporality and the Value of Temporariness
(Barcelona Superilla, 2024)Embracing impermanence and constant change is a powerful way to up date our relationship with the city in the triple sense of how it is designed, used and managed. The meta-model of the superblocks ... -
Maps as Design Tools: Space, Time, and Experience
(The Routledge Handbook of Cartographic Humanities, 2024)When maps’ transformative potential is brought into play by architecture and other spatial design disciplines, maps and design cross over in a complex, creative and productive relationship. We use the ... -
El aprendizaje cooperativo como estrategia para la inclusión de deportistas
(Inclusión de chicas jóvenes en el deporte, 2025)El objetivo principal del deporte, más allá de competir en la búsqueda de ganadoras y perdedoras, debe ser el de educar a las participantes para aprender, disfrutar y formarse como personas independientemente ... -
Efficiency of fluvial biofilms on urban wastewater treatment in small facilities
(2026-01-21)This thesis addresses the challenges faced by small urban wastewater treatment plants (UWWTPs; <10,000 population equivalents) under the revised Urban Wastewater Treatment Directive (2024/3019/EU), ... -
Parelles Artístiques y Salud mental: Estudio multicéntrico de metotodología mixta con enfoque narrativo-fotográfico
(2025-12-19)Esta tesis doctoral analiza el proyecto Parelles Artístiques (Catalunya, desde 2006), que promueve la creación artística en pareja entre una persona con experiencia en salud mental y una artista de la ... -
Narrativas interactivas y transmedia en las novelas policíacas para la enseñanza de la literatura
(Obra Digital, 25, 41-53, 2024)Las tramas de las novelas policíacas acostumbran a ofrecer un juego de enigmas y rompecabezas que retan al lector. Esto ha facilitado que estas estructuras se hayan trasladado a nuevas dimensiones ... -
Art and Design: How Artistic Practices Enrich Design Education
(JIDA Textos de Arquitectura, Docencia e Innovación, 9, 2022)This chapter focuses on the use of art-based research to enrich active methodologies in design education. Based on the analysis of two case studies, it argues the need to further explore a ...