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Year Number of Results
1991 1
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1995 3
1996 4
1997 1
1998 1
1999 8
2000 2
2002 3
2003 3
2004 5
2005 4
2006 6
2007 9
2008 3
2009 4
2010 1
2011 3
2012 9
2013 4
2014 8
2015 10
2016 7
2017 9
2018 5
2019 4
2020 8
2021 6
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2023 7
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136 results

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Page 1
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
Masnada S, Hedrich UBS, Gardella E, Schubert J, Kaiwar C, Klee EW, Lanpher BC, Gavrilova RH, Synofzik M, Bast T, Gorman K, King MD, Allen NM, Conroy J, Ben Zeev B, Tzadok M, Korff C, Dubois F, Ramsey K, Narayanan V, Serratosa JM, Giraldez BG, Helbig I, Marsh E, O'Brien M, Bergqvist CA, Binelli A, Porter B, Zaeyen E, Horovitz DD, Wolff M, Marjanovic D, Caglayan HS, Arslan M, Pena SDJ, Sisodiya SM, Balestrini S, Syrbe S, Veggiotti P, Lemke JR, Møller RS, Lerche H, Rubboli G. Masnada S, et al. Among authors: serratosa jm. Brain. 2017 Sep 1;140(9):2337-2354. doi: 10.1093/brain/awx184. Brain. 2017. PMID: 29050392 Free article.
Gene therapy for Lafora disease in the Epm2a-/- mouse model.
Zafra-Puerta L, Iglesias-Cabeza N, Burgos DF, Sciaccaluga M, González-Fernández J, Bellingacci L, Canonichesi J, Sánchez-Martín G, Costa C, Sánchez MP, Serratosa JM. Zafra-Puerta L, et al. Among authors: serratosa jm. Mol Ther. 2024 Jul 3;32(7):2130-2149. doi: 10.1016/j.ymthe.2024.05.032. Epub 2024 May 24. Mol Ther. 2024. PMID: 38796707
Genetics of the epilepsies.
Gutierrez-Delicado E, Serratosa JM. Gutierrez-Delicado E, et al. Among authors: serratosa jm. Curr Opin Neurol. 2004 Apr;17(2):147-53. doi: 10.1097/00019052-200404000-00011. Curr Opin Neurol. 2004. PMID: 15021241 Review.
Progressive myoclonus epilepsy of Lafora.
Serratosa JM, Minassian BA, Ganesh S. Serratosa JM, et al. In: Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, editors. Jasper's Basic Mechanisms of the Epilepsies [Internet]. 4th edition. Bethesda (MD): National Center for Biotechnology Information (US); 2012. In: Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, editors. Jasper's Basic Mechanisms of the Epilepsies [Internet]. 4th edition. Bethesda (MD): National Center for Biotechnology Information (US); 2012. PMID: 22787674 Free Books & Documents. Review.
Lafora disease offers a unique window into neuronal glycogen metabolism.
Gentry MS, Guinovart JJ, Minassian BA, Roach PJ, Serratosa JM. Gentry MS, et al. Among authors: serratosa jm. J Biol Chem. 2018 May 11;293(19):7117-7125. doi: 10.1074/jbc.R117.803064. Epub 2018 Feb 26. J Biol Chem. 2018. PMID: 29483193 Free PMC article. Review.
Progress in mapping human epilepsy genes.
Delgado-Escueta AV, Serratosa JM, Liu A, Weissbecker K, Medina MT, Gee M, Treiman LJ, Sparkes RS. Delgado-Escueta AV, et al. Among authors: serratosa jm. Epilepsia. 1994;35 Suppl 1:S29-40. doi: 10.1111/j.1528-1157.1994.tb05926.x. Epilepsia. 1994. PMID: 8293722 Review.
[New epileptic syndromes].
Serratosa JM. Serratosa JM. Neurologia. 1999 May;14 Suppl 3:20-4. Neurologia. 1999. PMID: 10379163 Review. Spanish.
136 results