Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
openAccess | | sep-2018 | A novel EPM2A mutation yields a slow progression form of Lafora disease | García-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 |
openAccess | | 13-oct-2021 | An empirical pipeline for personalized diagnosis of Lafora disease mutations | Brewer, 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 |
openAccess | | 20-jul-2012 | Deciphering the role of malin in the Lafora progressive myoclonus epilepsy | Romá-Mateo, Carlos CSIC ORCID CVN; Sanz, Pascual CSIC ORCID ; Gentry, Matthew S. | artículo |
openAccess | | 26-jul-2013 | Dimerization of the glucan phosphatase laforin requires the participation of cysteine 329 | Sánchez-Martín, Pablo CSIC ORCID; Raththagala, Madushi; Bridges, Travis M.; Husodo, Satrio; Gentry, Matthew S.; Sanz, Pascual CSIC ORCID ; Romá-Mateo, Carlos CSIC ORCID CVN | artículo |
openAccess | | 28-jul-2011 | Lafora disease E3-ubiquitin ligase malin is related to TRIM32 at both the phylogenetic and functional level | Romá-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 |
openAccess | | 26-ago-2011 | Laforin, a dual specificity phosphatase involved in lafora disease, is present mainly as monomeric form with full phosphatase activity | Dukhande, 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 |
openAccess | | 16-mar-2012 | Laforin, a protein with many faces: glucan phosphatase, adapter protein, et alii | Gentry, Matthew S.; Romá-Mateo, Carlos CSIC ORCID CVN; Sanz, Pascual CSIC ORCID | preprint |
openAccess | | 23-jun-2016 | Phenotypic 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 |
openAccess | | feb-2020 | The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic | Gentry, 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 |