Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: EPM2A[original query] |
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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 |
Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies. PLoS genetics 2015 May 11 (5): e1005226. Lal Dennis, Ruppert Ann-Kathrin, Trucks Holger, Schulz Herbert, de Kovel Carolien G, Kasteleijn-Nolst Trenité Dorothée, Sonsma Anja C M, Koeleman Bobby P, Lindhout Dick, Weber Yvonne G, Lerche Holger, Kapser Claudia, Schankin Christoph J, Kunz Wolfram S, Surges Rainer, Elger Christian E, Gaus Verena, Schmitz Bettina, Helbig Ingo, Muhle Hiltrud, Stephani Ulrich, Klein Karl M, Rosenow Felix, Neubauer Bernd A, Reinthaler Eva M, Zimprich Fritz, Feucht Martha, Møller Rikke S, Hjalgrim Helle, De Jonghe Peter, Suls Arvid, Lieb Wolfgang, Franke Andre, Strauch Konstantin, Gieger Christian, Schurmann Claudia, Schminke Ulf, Nürnberg Peter, , Sander Thom |
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 |
PDE7B, NMBR and EPM2A Variants and Schizophrenia: A Case-Control and Pharmacogenetics Study. Neuropsychobiology 2016 Apr 73 (3): 160-168. Porcelli Stefano, Balzarro Beatrice, Lee Soo-Jung, Han Changsu, Patkar Ashwin A, Pae Chi-Un, Serretti Alessand |
Genome-wide association study of pancreatic fat: The Multiethnic Cohort Adiposity Phenotype Study.
PloS one 2021 16 (7): e0249615. Streicher Samantha A, Lim Unhee, Park S Lani, Li Yuqing, Sheng Xin, Hom Victor, Xia Lucy, Pooler Loreall, Shepherd John, Loo Lenora W M, Darst Burcu F, Highland Heather M, Polfus Linda M, Bogumil David, Ernst Thomas, Buchthal Steven, Franke Adrian A, Setiawan Veronica Wendy, Tiirikainen Maarit, Wilkens Lynne R, Haiman Christopher A, Stram Daniel O, Cheng Iona, Le Marchand Lo |
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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- Page last updated:Apr 22, 2024
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