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 › STAB2_NHLRC1
Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage.
Orsini A et al.
Journal of Neurology, 2022
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations.
Riva A et al.
Journal of the Neurological Sciences, 2021
A recurrent homozygous NHLRC1 variant in siblings with Lafora disease.
Araya N et al.
Human Genome Variation, 2018
Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report.
Casciato S et al.
The International Journal of Neuroscience, 2017
Repository of mutations from Oman: The entry point to a national mutation database.
Rajab A et al.
F1000research, 2015
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.
Lesca G et al.
Epilepsia, 2010
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