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Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease.
Raththagala M, Brewer MK, Parker MW, Sherwood AR, Wong BK, Hsu S, Bridges TM, Paasch BC, Hellman LM, Husodo S, Meekins DA, Taylor AO, Turner BD, Auger KD, Dukhande VV, Chakravarthy S, Sanz P, Woods VL Jr, Li S, Vander Kooi CW, Gentry MS. Raththagala M, et al. Among authors: gentry ms. Mol Cell. 2015 Jan 22;57(2):261-72. doi: 10.1016/j.molcel.2014.11.020. Epub 2014 Dec 24. Mol Cell. 2015. PMID: 25544560 Free PMC article.
A novel EPM2A mutation yields a slow progression form of Lafora disease.
Garcia-Gimeno MA, Rodilla-Ramirez PN, Viana R, Salas-Puig X, Brewer MK, Gentry MS, Sanz P. Garcia-Gimeno MA, et al. Among authors: gentry ms. Epilepsy Res. 2018 Sep;145:169-177. doi: 10.1016/j.eplepsyres.2018.07.003. Epub 2018 Jul 21. Epilepsy Res. 2018. PMID: 30041081 Free PMC article.
The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic.
Gentry MS, Afawi Z, Armstrong DD, Delgado-Escueta A, Goldberg YP, Grossman TR, Guinovart JJ, Harris F, Hurley TD, Michelucci R, Minassian BA, Sanz P, Worby CA, Serratosa JM. Gentry MS, et al. Epilepsy Behav. 2020 Feb;103(Pt A):106839. doi: 10.1016/j.yebeh.2019.106839. Epub 2020 Jan 10. Epilepsy Behav. 2020. PMID: 31932179 Free PMC article. Review.
An empirical pipeline for personalized diagnosis of Lafora disease mutations.
Brewer MK, Machio-Castello M, Viana R, Wayne JL, Kuchtová A, Simmons ZR, Sternbach S, Li S, García-Gimeno MA, Serratosa JM, Sanz P, Vander Kooi CW, Gentry MS. Brewer MK, et al. Among authors: gentry ms. iScience. 2021 Oct 13;24(11):103276. doi: 10.1016/j.isci.2021.103276. eCollection 2021 Nov 19. iScience. 2021. PMID: 34755096 Free PMC article.
112 results