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
Lafora Disease: A Case Report and Evolving Treatment Advancements.
Ferrari Aggradi CR et al.
Brain Sciences, 2023
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
TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases.
Kumarasinghe L et al.
Cells, 2021
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report.
Casciato S et al.
The International Journal of Neuroscience, 2017
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism.
Couarch P et al.
Journal of Molecular Medicine (berlin, Germany), 2011
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.
Lesca G et al.
Epilepsia, 2010
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