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2015 3
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2019 5
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2022 3
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Page 1
Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes.
Zaganas I, Vorgia P, Spilioti M, Mathioudakis L, Raissaki M, Ilia S, Giorgi M, Skoula I, Chinitrakis G, Michaelidou K, Paraskevoulakos E, Grafakou O, Kariniotaki C, Psyllou T, Zafeiris S, Tzardi M, Briassoulis G, Dinopoulos A, Mitsias P, Evangeliou A. Zaganas I, et al. Epilepsy Behav Rep. 2021 Aug 27;16:100477. doi: 10.1016/j.ebr.2021.100477. eCollection 2021. Epilepsy Behav Rep. 2021. PMID: 34568804 Free PMC article.
Generation and characterization of a laforin nanobody inhibitor.
Simmons ZR, Sharma S, Wayne J, Li S, Vander Kooi CW, Gentry MS. Simmons ZR, et al. Clin Biochem. 2021 Jul;93:80-89. doi: 10.1016/j.clinbiochem.2021.03.017. Epub 2021 Apr 5. Clin Biochem. 2021. PMID: 33831386 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. 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.
Cooperative Kinetics of the Glucan Phosphatase Starch Excess4.
Mak CA, Weis K, Henao T, Kuchtova A, Chen T, Sharma S, Meekins DA, Thalmann M, Vander Kooi CW, Raththagala M. Mak CA, et al. Biochemistry. 2021 Aug 10;60(31):2425-2435. doi: 10.1021/acs.biochem.1c00307. Epub 2021 Jul 28. Biochemistry. 2021. PMID: 34319705
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. 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.
37 results