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
Increased oxidative stress and impaired antioxidant response in Lafora disease.
Romá-Mateo C et al.
Molecular Neurobiology, 2015
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.
Lesca G et al.
Epilepsia, 2010
Laforin, the most common protein mutated in Lafora disease, regulates autophagy.
Aguado C et al.
Human Molecular Genetics, 2010
[Myoclonic epilepsy of Lafora: a case report].
Rudenskaia GE et al.
Zhurnal Nevrologii I Psikhiatrii Imeni S.s. Korsakova, 2010
Regulation of glycogen synthesis by the laforin-malin complex is modulated by the AMP-activated protein kinase pathway.
Solaz-Fuster MC et al.
Human Molecular Genetics, 2008
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
Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.
Ganesh S et al.
Human Molecular Genetics, 2002
Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy.
Minassian BA et al.
Neurology, 2000
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