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DerechosPreviewFecha Public.TítuloAutor(es)Tipo
openAccess2018 Epilepsy Res 145-169 Author copy.pdf.jpgsep-2018A novel EPM2A mutation yields a slow progression form of Lafora diseaseGarcía-Gimeno, María Adelaida CSIC ORCID; Rodilla-Ramirez, Pilar Natalia; Viana, Rosa CSIC ORCID ; Salas-Puig, Xavier; Brewer, M. Kathryn; Gentry, Matthew S.; Sanz, Pascual CSIC ORCID artículo
openAccess2021 iScience 24-103276.pdf.jpg13-oct-2021An empirical pipeline for personalized diagnosis of Lafora disease mutationsBrewer, M. Kathryn; Machio-Castello, Maria; Viana, Rosa CSIC ORCID ; Wayne, Jeremiah L.; Kuchtová, Andrea; Simmons, Zoe R.; Sternbach, Sarah; Li, Sheng; García-Gimeno, María Adelaida CSIC ORCID; Serratosa, José M.; Sanz, Pascual CSIC ORCID ; Vander Kooi, Craig W.; Gentry, Matthew S.artículo
openAccess2012 IUBMB life 64-801.pdf.jpg20-jul-2012Deciphering the role of malin in the Lafora progressive myoclonus epilepsyRomá-Mateo, Carlos CSIC ORCID CVN; Sanz, Pascual CSIC ORCID ; Gentry, Matthew S.artículo
openAccess2013 Plos One 008-e69523.pdf.jpg26-jul-2013Dimerization of the glucan phosphatase laforin requires the participation of cysteine 329Sánchez-Martín, Pablo CSIC ORCID; Raththagala, Madushi; Bridges, Travis M.; Husodo, Satrio; Gentry, Matthew S.; Sanz, Pascual CSIC ORCID ; Romá-Mateo, Carlos CSIC ORCID CVNartículo
openAccess1471-2148-11-225-S6.TIFF.jpg28-jul-2011Lafora disease E3-ubiquitin ligase malin is related to TRIM32 at both the phylogenetic and functional levelRomá-Mateo, Carlos CSIC ORCID CVN; Moreno, Daniel; Vernia, Santiago CSIC ORCID ; Rubio, Teresa CSIC ORCID; Bridges, Travis M.; Gentry, Matthew S.; Sanz, Pascual CSIC ORCID artículo
openAccessPlos One 006-e24040.pdf.jpg26-ago-2011Laforin, a dual specificity phosphatase involved in lafora disease, is present mainly as monomeric form with full phosphatase activityDukhande, Vikas V.; Rogers, Devin M.; Romá-Mateo, Carlos CSIC ORCID CVN; Donderis, Jorge CSIC; Marina, Alberto CSIC ORCID ; Taylor, Adam O.; Sanz, Pascual CSIC ORCID ; Gentry, Matthew S.artículo
openAccessFEBS J first version.pdf.jpg16-mar-2012Laforin, a protein with many faces: glucan phosphatase, adapter protein, et aliiGentry, Matthew S.; Romá-Mateo, Carlos CSIC ORCID CVN; Sanz, Pascual CSIC ORCID preprint
openAccess2016 Sanz Lafora WS Poster Ada.pdf.jpg23-jun-2016Phenotypic characterization of a new EPM2A mutation (N163D)García-Gimeno, María Adelaida CSIC ORCID; Viana, Rosa CSIC ORCID ; Rubio-Villena, Carla CSIC ORCID; Sánchez-Martín, Pablo CSIC ORCID; Brewer, M. Kathryn; Gentry, Matthew S.; Sanz, Pascual CSIC ORCID póster de congreso
openAccess2020 Epilepsy Behav 103-106839 vers aut.pdf.jpgfeb-2020The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinicGentry, Matthew S.; Afawi, Zaid; Armstrong, Dustin D.; Delgado-Escueta, Antonio; Goldberg, Y. Paul; Grossman, Tamar R.; Guinovart, Joan J.; Harris, Frank; Hurley, Thomas D.; Michelucci, Roberto; Minassian, Berge A.; Sanz, Pascual CSIC ORCID ; Worby, Carolyn A.; Serratosa, Jose M.actas de congreso