Associated Papers
Axonal polyneuropathy in Lafora disease with a newly identified EPM2A mutation: a case report and review of literature.
Razmeh S et al.
Journal of Neurology, 2025
Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.
Pondrelli F et al.
Orphanet Journal of Rare Diseases, 2023
37658439 (PubMed )
Supplement: 13023_2023_2880_MOESM2_ESM.xlsx › STAB2_NHLRC1
Laforin is required for the functional activation of malin in endoplasmic reticulum stress resistance in neuronal cells.
Zeng L et al.
The Febs Journal, 2012
Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes.
Singh S et al.
Human Mutation, 2009
Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy.
Singh S et al.
Journal of Medical Genetics, 2006
Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy.
Ganesh S et al.
Journal of Human Genetics, 2006
Lafora disease due to EPM2B mutations: a clinical and genetic study.
Gómez-Abad C et al.
Neurology, 2005
Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population.
Singh S et al.
Journal of Human Genetics, 2005
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