Associated Papers
The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.
Orsini A et al.
Seizure, 2019
Lafora disease: from genotype to phenotype.
Parihar R et al.
Journal of Genetics, 2018
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
Lafora progressive myoclonus epilepsy: disease course homogeneity in a genetic isolate.
Turnbull J et al.
Journal of Child Neurology, 2008
Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy.
Singh S et al.
Journal of Medical Genetics, 2006
Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy.
Ganesh S et al.
Journal of Human Genetics, 2006
Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.
Gentry MS et al.
Proceedings of the National Academy of Sciences of the United States of America, 2005
Lafora disease due to EPM2B mutations: a clinical and genetic study.
Gómez-Abad C et al.
Neurology, 2005
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