Browsing by Author Marfany i Nadal, Gemma

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Issue DateTitleAuthor(s)
1-Jul-2020A new cerkl mouse model generated by CRISPR-Cas9 shows progressive retinal degeneration and altered morphological and electrophysiological phenotypeDomènech, Elena B.; Andrés, Rosa; López-Iniesta, M. José; Mirra, Serena; García-Arroyo, Rocío; Milla, Santiago; Sava, Florentina; Andilla i Salla, Jordi; Loza-Álvarez, Pablo; Villa, Pedro de la; Gonzàlez-Duarte, Roser; Marfany i Nadal, Gemma
21-Sep-2019Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1Valero Gils, Rebeca; Castro-Miró, Marta de; Jiménez Ochoa, Sofía; Rodríguez Ezcurra, Juan José; Marfany i Nadal, Gemma; Gonzàlez-Duarte, Roser
31-Mar-2011Acid ceramidase and sphingosine-1-phosphate lyase as biomarkers and therapeutic targets in cancer. (Ceramidasa ácida y esfingosina-1-fosfato liasa como biomarcadores y dianas terapéuticas en cáncer)Camacho Castillo, Luz del Carmen
2014ADN forense: problemas éticos y jurídicosCasado, María; Guillén, Margarita; Acón Ortego, Ignacio; Badia Martí, Anna; Barrot i Feixat, Carme; Bergel, Salvador Darío; Carracedo Álvarez, Ángel; Corcoy Bidasolo, Mirentxu; García Fernández, Óscar; Gené Badia, Manel; López Ortega, Juan José; Marfany i Nadal, Gemma; Moreno Verdejo, Jaime; Navarro Michel, Mónica; Prieto, Lourdes; Puig Marcó, Roser; Yurrebaso, Iñaki
7-Sep-2022Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2Castilla-Vallmanya, Laura; Centeno-Pla, Mónica; Serrano, Mercedes; Franco-Valls, Héctor; Martínez-Cabrera, Raúl; Prat-Planas, Aina; Rojano, Elena; Ranea, Juan A G; Seoane, Pedro; Oliva, Clara; Paredes-Fuentes, Abraham J; Marfany i Nadal, Gemma; Artuch, Rafael; Grinberg Vaisman, Daniel Raúl; Rabionet Janssen, Raquel; Balcells Comas, Susana; Urreizti, Roser
Aug-2022Altered retinal structure and function in Spinocerebellar ataxia type 3Toulis, Vasileios; Casaroli Marano, Ricardo Pedro; Camós-Carreras, Anna; Figueras-Roca, Marc; Sánchez Dalmau, Bernardo; Muñoz García, José Esteban; Ashraf, Naila S.; Ferreira, Ana F.; Khan, Naheed; Marfany i Nadal, Gemma; Do Carmo Costa, Mario
3-Dec-2004Anàlisi de l'expressió dels gens ParaHox al páncrees endocríRosanas Urgell, Anna
22-Mar-2002Anàlisi molecular de gens implicats a la síndrome de DownSánchez-Font, Ma. Francisca
19-Dec-2002Anàlisi molecular i funcional de la presenilina de "Drosophila"Cervantes Roldán, Sara
14-Mar-2019Assessing diversity in multiplex networksCarpi, Laura; Schieber, Tiago A.; Pardalos, Panos M.; Marfany i Nadal, Gemma; Masoller, Cristina; Díaz Guilera, Albert; Ravetti, Martín G.
10-Apr-2020By the Tips of Your Cilia: Ciliogenesis in the Retina and the Ubiquitin-Proteasome System.Toulis, Vasileios; Marfany i Nadal, Gemma
3-Dec-2009Caracterització funcional d'HP1c, la isoforma eucromàtica de les proteïnes HP1 de "Drosophila"Font Burgada, Joan
5-Sep-2022Carta a TheresiaMarfany i Nadal, Gemma
24-Nov-2004Cerca i identificació del gen de retinitis pigmentària autosòmica recessiva del locus RP26Tusón Segarra, Miquel
25-May-2021CERKL, a retinal dystrophy gene, regulates mitochondrial function and dynamics in the mammalian retinaMirra, Serena; García-Arroyo, Rocío; Domènech, Elena B.; Gavaldà i Navarro, Aleix; Herrera Úbeda, Carlos; Oliva, Clara; Garcia Fernández, Jordi; Artuch Iriberri, Rafael; Villarroya i Gombau, Francesc; Marfany i Nadal, Gemma
30-Sep-2022CERKL, a Retinal Dystrophy Gene, Regulates Mitochondrial Transport and Dynamics in Hippocampal Neurons.García-Arroyo, Rocío; Marfany i Nadal, Gemma; Mirra, Serena
3-Oct-2011CERKL, generació d’un model knockout de retinosi pigmentària i estudis funcionalsGaranto Iglesias, Alejandro
26-Oct-2020Characterisation of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functionsNavas Pérez, Enrique; Vicente García, Cristina; Mirra, Serena; Burguera Hernández, Demian; Fernàndez Castillo, Noèlia; Ferrán, José Luis; López Mayorga, Macarena; Alaiz Noya, Marta; Suárez Pereira, Irene; Antón Galindo, Ester; Ulloa Darquea, Fausto Alexander; Herrera Úbeda, Carlos; Cuscó, Pol; Falcón Moya, Rafael; Rodríguez Moreno, Antonio; D'Aniello, Salvatore; Cormand Rifà, Bru; Marfany i Nadal, Gemma; Soriano García, Eduardo; Carrión, Ángel M.; Carvajal, Jaime J.; Garcia Fernández, Jordi
2001Characterization of alternatively spliced products and tissue-specific isoforms of USP28 and USP25Valero Gils, Rebeca; Bayés Colomer, Mònica; Sánchez-Font, Ma. Francisca; Gonzàlez-Angulo, Olga; Gonzàlez-Duarte, Roser; Marfany i Nadal, Gemma
7-Feb-2014Combined genetic and high-throughput strategies for the molecular diagnosis of inherited retinal dystrophiesCastro-Miró, Marta de; Pomares, Esther; Lorés-Motta, Laura; Tonda, Raul; Dopazo, Joaquín; Marfany i Nadal, Gemma; Gonzàlez-Duarte, Roser