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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Disease Progression and EPM2A[original query]
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
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