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
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
Three patients with lafora disease: different clinical presentations and a novel mutation.
Poyrazoğlu HG et al.
Journal of Child Neurology, 2015
Mild Lafora disease: clinical, neurophysiologic, and genetic findings.
Ferlazzo E et al.
Epilepsia, 2014
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
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