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
An empirical pipeline for personalized diagnosis of Lafora disease mutations.
Brewer MK et al.
Iscience, 2021
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
Clinical and genetic findings in 26 Italian patients with Lafora disease.
Franceschetti S et al.
Epilepsia, 2006
Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy.
Ganesh S et al.
Journal of Human Genetics, 2006
A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit.
Annesi G et al.
Epilepsia, 2004
Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy.
Ianzano L et al.
Human Mutation, 2004
Select a paper to view details