Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: Lafora Disease and EPM2A[original query] |
---|
Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes. Human mutation 2009 May 30 (5): 715-23. Singh Shweta, Ganesh Subramani |
Clinical and genetic data on Lafora disease patients of Serbian/Montenegrin origin. Clinical genetics 2015 Feb . Kecmanovi? M, Jovi? N, Keckarevi?-Markovi? M, Keckarevi? D, Stevanovi? G, Ignjatovi? P, Romac |
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations. Journal of the neurological sciences 2021 Mar 424 117409. Riva Antonella, Orsini Alessandro, Scala Marcello, Taramasso Vittoria, Canafoglia Laura, d'Orsi Giuseppe, Di Claudio Maria Teresa, Avolio Carlo, D'Aniello Alfredo, Elia Maurizio, Franceschetti Silvana, Di Gennaro Giancarlo, Bisulli Francesca, Tinuper Paolo, Tappatà Maria, Romeo Antonino, Freri Elena, Marini Carla, Costa Cinzia, Sofia Vito, Ferlazzo Edoardo, Magaudda Adriana, Veggiotti Pierangelo, Gennaro Elena, Pistorio Angela, Minetti Carlo, Bianchi Amedeo, Striano Salvatore, Michelucci Roberto, Zara Federico, Minassian Berge Arakel, Striano Pasquale, |
Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage. Journal of neurology 2022 2 269 (7): 3597-3604. Orsini Alessandro, Ferrari Daniele, Riva Antonella, Santangelo Andrea, Macrì Angelo, Freri Elena, Canafoglia Laura, D'Aniello Alfredo, Di Gennaro Giancarlo, Massimetti Gabriele, Minetti Carlo, Zara Federico, Michelucci Roberto, Tumber Anupreet, Vincent Ajoy, Minassian Berge Arakel, Striano Pasqua |
Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data. Orphanet journal of rare diseases 2023 9 18 (1): 263. Federica Pondrelli, Raffaella Minardi, Lorenzo Muccioli, Corrado Zenesini, Luca Vignatelli, Laura Licchetta, Barbara Mostacci, Paolo Tinuper, Craig W Vander Kooi, Matthew S Gentry, Francesca Bisul |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
- Content source: