Associated Papers
Clinical course and management challenges in Lafora disease: a narrative analysis in an Apulian cohort.
d'Orsi G et al.
Orphanet Journal of Rare Diseases, 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
Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage.
Orsini A et al.
Journal of Neurology, 2022
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations.
Riva A et al.
Journal of the Neurological Sciences, 2021
TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases.
Kumarasinghe L et al.
Cells, 2021
Mild Lafora disease: clinical, neurophysiologic, and genetic findings.
Ferlazzo E et al.
Epilepsia, 2014
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
Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease.
Traoré M et al.
Neurogenetics, 2009
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
Malin decreases glycogen accumulation by promoting the degradation of protein targeting to glycogen (PTG).
Worby CA et al.
The Journal of Biological Chemistry, 2008
Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy.
Singh S et al.
Journal of Medical Genetics, 2006
Clinical and genetic findings in 26 Italian patients with Lafora disease.
Franceschetti S et al.
Epilepsia, 2006
Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.
Gentry MS et al.
Proceedings of the National Academy of Sciences of the United States of America, 2005
Lafora disease due to EPM2B mutations: a clinical and genetic study.
Gómez-Abad C et al.
Neurology, 2005
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