Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Lafora Disease and NHLRC1[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 |
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 |
Novel frameshift variant of NHLRC1 gene in compound heterozygosity in an adult Greek patient with Lafora disease. Seizure 2021 2 86 49-51. Afrantou Theodora, Lagoudaki Roza, Papadopoulos Theofanis, Karayannopoulou Georgia, Galidis Eleftherios, Migkos Konstantinos, Stavridou Eleni, Kimiskidis Vasilios, Ioannidis Panagotis, Grigoriadis Nikola |
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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