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
An empirical pipeline for personalized diagnosis of Lafora disease mutations.
Brewer MK et al.
Iscience, 2021
Oligomerization and carbohydrate binding of glucan phosphatases.
Sharma S et al.
Analytical Biochemistry, 2018
A novel EPM2A mutation yields a slow progression form of Lafora disease.
Garcia-Gimeno MA et al.
Epilepsy Research, 2018
Extraneurological sparing in long-lived typical Lafora disease.
Goldsmith D et al.
Epilepsia Open, 2018
Late-onset Lafora disease with prominent parkinsonism due to a rare mutation in EPM2A.
Lynch DS et al.
Neurology. Genetics, 2016
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