Associated Papers
An empirical pipeline for personalized diagnosis of Lafora disease mutations.
Brewer MK et al.
Iscience, 2021
Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome.
Flintoff K et al.
Human Genetics, 2007
Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls.
Lohi H et al.
Neurology, 2007
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
Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy.
Ianzano L et al.
Human Mutation, 2004
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