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
Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease.
d'Orsi G et al.
Frontiers in Neurology, 2023
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
The presenting symptoms of Lafora Disease: An electroclinical and genetic study in five Apulian (Southern Italy) families.
d'Orsi G et al.
Seizure, 2020
Mild Lafora disease: clinical, neurophysiologic, and genetic findings.
Ferlazzo E et al.
Epilepsia, 2014
Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy.
Ianzano L et al.
Human Mutation, 2004
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