Browsing by Author Marfany i Nadal, Gemma

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Issue DateTitleAuthor(s)
Jan-2020Qui vol el teu ADN?Marfany i Nadal, Gemma
15-Dec-2023Relevant deubiquitinating enzymes in cilium formation and function in the retina: USP48Sánchez Bellver, Laura
11-Nov-2019RPGeNet v2 .0: expanding the universe of retinal disease gene interactions networkArenas-Galnares, Rodrigo; Castillo Lara, Sergio; Toulis, Vasileios; Boloc, Daniel; Gonzàlez-Duarte, Roser; Marfany i Nadal, Gemma; Abril Ferrando, Josep Francesc, 1970-
29-Dec-2019Scaling new heights in the genetic diagnosis of inherited retinal dystrophiesGonzàlez-Duarte, Roser.; de Castro-Miró, Marta; Tuson, Miquel; Ramírez-Castañeda, Valeria; Valero-Gils, Rebeca; Marfany i Nadal, Gemma
5-Sep-2022Sobre Gregor MendelMarfany i Nadal, Gemma
Mar-2021Som un trencadísMarfany i Nadal, Gemma
1-May-2024Specific photoreceptor cell fate pathways are differentially altered in NR2E3-associated diseasesAísa-Marín, Izarbe; Rovira, Quirze; Díaz, Noelia; Calvo-López, Laura; Vaquerizas, Juan M.; Marfany i Nadal, Gemma
3-Feb-2017SUMO a la retinaAbad-Morales, Víctor
Feb-2021The Alter Retina: Alternative Splicing of Retinal Genes in Health and Disease.Aísa-Marín, Izarbe; García-Arroyo, Rocío; Mirra, Serena; Marfany i Nadal, Gemma
Nov-2020The Deubiquitinating Enzyme Ataxin-3 Regulates Ciliogenesis and Phagocytosis in the RetinaToulis, Vasileios; Garcia Monclús, Silvia; de la Peña-Ramírez, Carlos; Arenas-Galnares, Rodrigo; Abril Ferrando, Josep Francesc, 1970-; Todi, Sokol V.; Khan, Naheed; Garanto, Alejandro; Costa, Maria do Carmo; Marfany i Nadal, Gemma
19-Oct-2022The Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3Sánchez-Bellver, Laura; Férriz-Gordillo, Andrea; Carrillo-Pz, Marc; Rabanal, Laura; Garcia-Gonzalo, Francesc R.; Marfany i Nadal, Gemma
1-Nov-2021The genetic landscape of inherited retinal diseases in a Mexican cohort: Genes, mutations and phenotypesVillanueva-Mendoza, Cristina; Tuson, Miquel; Apam-Garduño, David; de Castro-Miró, Marta; Tonda, Raul; Trotta, Jean Remi; Marfany i Nadal, Gemma; Valero, Rebeca; Cortés-González, Vianney; Gonzàlez-Duarte, Roser
23-Apr-2020The Relevance of Oxidative Stress in the Pathogenesis and Therapy of Retinal DystrophiesDomènech, Elena B.; Marfany i Nadal, Gemma
15-May-2009The UBA-UIM domains of USP25 regulate the enzyme ubiquitination state and modulate substrate recognitionDenuc, Amanda; Bosch Comas, Anna; Gonzàlez-Duarte, Roser; Marfany i Nadal, Gemma
May-2012Ubiquitin-specific protease USP25 functions in endoplasmic reticulum-associated degradationBlount, J. R.; Burr, A. A.; Denuc Isern, Amanda; Marfany i Nadal, Gemma; Todi, S. V.
21-Nov-2019Under pressure: cerebrospinal fluid contribution to the physiological homeostasis of the eyeMirra, Serena; Marfany i Nadal, Gemma; Garcia Fernández, Jordi
Oct-2019Wanderlust: el ansia de descubrir mundo (desde la genética)Marfany i Nadal, Gemma
20-Jul-2020Zebrafish and mouse models for studying deubiquitinating enzyme genes as candidates for retinal dystrophiesToulis, Vasileios