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
Identification of a pathogenic NHLRC1 variant in a consanguineous Pakistani family affected with severe and rapidly progressive Lafora disease.
Aslam Z et al.
Acta Epileptologica, 2025
TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases.
Kumarasinghe L et al.
Cells, 2021
Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy.
Singh S et al.
Journal of Medical Genetics, 2006
Lafora disease due to EPM2B mutations: a clinical and genetic study.
Gómez-Abad C et al.
Neurology, 2005
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