Associated Papers
The challenge of ultra-rarity: Dual diagnosis of Lafora disease and developmental encephalopathies linked to TRIO and SHANK3 pathogenic variants.
Muccioli L et al.
Epilepsia Open, 2025
Lafora Disease: A Case Report and Evolving Treatment Advancements.
Ferrari Aggradi CR et al.
Brain Sciences, 2023
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
P-Rex1 is a novel substrate of the E3 ubiquitin ligase Malin associated with Lafora disease.
Kumarasinghe L et al.
Neurobiology of Disease, 2023
Lafora Body Epilepsy: A Challenging Diagnosis.
Nomani AZ et al.
Journal of the College of Physicians and Surgeons--pakistan : Jcpsp, 2022
Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage.
Orsini A et al.
Journal of Neurology, 2022
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations.
Riva A et al.
Journal of the Neurological Sciences, 2021
Endocytosis of the glutamate transporter 1 is regulated by laforin and malin: Implications in Lafora disease.
Perez-Jimenez E et al.
Glia, 2021
TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases.
Kumarasinghe L et al.
Cells, 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Regulation of the autophagic PI3KC3 complex by laforin/malin E3-ubiquitin ligase, two proteins involved in Lafora disease.
Sanchez-Martin P et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2020
The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.
Orsini A et al.
Seizure, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Lafora disease: from genotype to phenotype.
Parihar R et al.
Journal of Genetics, 2018
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
A recurrent homozygous NHLRC1 variant in siblings with Lafora disease.
Araya N et al.
Human Genome Variation, 2018
Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report.
Casciato S et al.
The International Journal of Neuroscience, 2017
Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA.
Dimassi S et al.
Applied & Translational Genomics, 2015
Mild Lafora disease: clinical, neurophysiologic, and genetic findings.
Ferlazzo E et al.
Epilepsia, 2014
Progressive myoclonus epilepsy.
Girard JM et al.
Handbook of Clinical Neurology, 2013
Deciphering the role of malin in the lafora progressive myoclonus epilepsy.
Romá-Mateo C et al.
Iubmb Life, 2012
Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families.
Salar S et al.
Epilepsy Research, 2012
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism.
Couarch P et al.
Journal of Molecular Medicine (berlin, Germany), 2011
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.
Lesca G et al.
Epilepsia, 2010
22-year-old girl with status epilepticus and progressive neurological symptoms.
Striano P et al.
Brain Pathology (zurich, Switzerland), 2009
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
Typical progression of myoclonic epilepsy of the Lafora type: a case report.
Striano P et al.
Nature Clinical Practice. Neurology, 2008
Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora.
Gómez-Garre P et al.
Neurology, 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
Clinical and genetic findings in 26 Italian patients with Lafora disease.
Franceschetti S et al.
Epilepsia, 2006
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
Lafora disease due to EPM2B mutations: a clinical and genetic study.
Gómez-Abad C et al.
Neurology, 2005
Mutations in NHLRC1 cause progressive myoclonus epilepsy.
Chan EM et al.
Nature Genetics, 2003