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
TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases.
Kumarasinghe L et al.
Cells, 2021
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
Mild Lafora disease: clinical, neurophysiologic, and genetic findings.
Ferlazzo E et al.
Epilepsia, 2014
Laforin-malin complex degrades polyglucosan bodies in concert with glycogen debranching enzyme and brain isoform glycogen phosphorylase.
Liu Y et al.
Molecular Neurobiology, 2014
Laforin is required for the functional activation of malin in endoplasmic reticulum stress resistance in neuronal cells.
Zeng L et al.
The Febs Journal, 2012
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
Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy.
Singh S et al.
Journal of Medical Genetics, 2006
Clinical and genetic findings in 26 Italian patients with Lafora disease.
Franceschetti S et al.
Epilepsia, 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
Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population.
Singh S et al.
Journal of Human Genetics, 2005
Mutations in NHLRC1 cause progressive myoclonus epilepsy.
Chan EM et al.
Nature Genetics, 2003
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