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
Complete response to anti-PD-L1 antibody in a metastatic bladder cancer associated with novel MSH4 mutation and microsatellite instability.
Yang Y et al.
Journal for Immunotherapy of Cancer, 2020
32221012 (PubMed )
Supplement: jitc-2019-000128supp001.xlsx › Clean
Laforin, a dual-specificity phosphatase involved in Lafora disease, is phosphorylated at Ser25 by AMP-activated protein kinase.
Romá-Mateo C et al.
The Biochemical Journal, 2011
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
Two novel mutations in the EPM2A gene in a Korean patient with Lafora's progressive myoclonus epilepsy.
Ki CS et al.
Journal of Human Genetics, 2003
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