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
Lafora disease proteins laforin and malin negatively regulate the HIPK2-p53 cell death pathway.
Upadhyay M et al.
Biochemical and Biophysical Research Communications, 2015
Malin and laforin are essential components of a protein complex that protects cells from thermal stress.
Sengupta S et al.
Journal of Cell Science, 2011
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 disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment.
Mittal S et al.
Human Molecular Genetics, 2007
Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy.
Singh S et al.
Journal of Medical Genetics, 2006
Seven cases of Pompe disease from Greece.
Kroos M et al.
Journal of Inherited Metabolic Disease, 2006
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