Associated Papers
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 › STAB1_EPM2A
An empirical pipeline for personalized diagnosis of Lafora disease mutations.
Brewer MK et al.
Iscience, 2021
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations.
Riva A et al.
Journal of the Neurological Sciences, 2021
Lafora disease: from genotype to phenotype.
Parihar R et al.
Journal of Genetics, 2018
Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.
Tong W et al.
Scientific Reports, 2018
29581464 (PubMed )
Supplement: 41598_2018_23503_MOESM1_ESM.xls › P4
Mild Lafora disease: clinical, neurophysiologic, and genetic findings.
Ferlazzo E et al.
Epilepsia, 2014
Deletions and missense mutations of EPM2A exacerbate unfolded protein response and apoptosis of neuronal cells induced by endoplasm reticulum stress.
Liu Y et al.
Human Molecular Genetics, 2009
Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment.
Mittal S et al.
Human Molecular Genetics, 2007
Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls.
Lohi H et al.
Neurology, 2007
Molecular characterization of laforin, a dual-specificity protein phosphatase implicated in Lafora disease.
Girard JM et al.
Biochimie, 2006
Clinical and genetic findings in 26 Italian patients with Lafora disease.
Franceschetti S et al.
Epilepsia, 2006
Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation.
Fernández-Sánchez ME et al.
Human Molecular Genetics, 2003
Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.
Ganesh S et al.
Human Molecular Genetics, 2002
A unique carbohydrate binding domain targets the lafora disease phosphatase to glycogen.
Wang J et al.
The Journal of Biological Chemistry, 2002
Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions.
Gómez-Garre P et al.
European Journal of Human Genetics : Ejhg, 2000
Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy.
Minassian BA et al.
Neurology, 2000
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