Associated Papers
Utilization of skin biopsy for diagnosis in a case of Lafora disease.
Rozenova KA et al.
Journal of Cutaneous Pathology, 2022
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
Progressive myoclonus epilepsy.
Girard JM et al.
Handbook of Clinical Neurology, 2013
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
Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy.
Lohi H et al.
Human Molecular Genetics, 2005
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 NHLRC1 cause progressive myoclonus epilepsy.
Chan EM et al.
Nature Genetics, 2003
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