Associated Papers
Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease.
Muccioli L et al.
Neurology. Genetics, 2025
Clinical course and management challenges in Lafora disease: a narrative analysis in an Apulian cohort.
d'Orsi G et al.
Orphanet Journal of Rare Diseases, 2025
ILAE Genetics Literacy series: Progressive myoclonus epilepsies.
Cameron JM et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 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
TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis.
Tung ML et al.
Genes, 2022
Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage.
Orsini A et al.
Journal of Neurology, 2022
The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey.
Haryanyan G et al.
Journal of Human Genetics, 2021
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations.
Riva A et al.
Journal of the Neurological Sciences, 2021
TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases.
Kumarasinghe L et al.
Cells, 2021
Genotypes and phenotypes of patients with Lafora disease living in Germany.
Brenner D et al.
Neurological Research and Practice, 2019
Lafora disease - from pathogenesis to treatment strategies.
Nitschke F et al.
Nature Reviews. Neurology, 2018
Extraneurological sparing in long-lived typical Lafora disease.
Goldsmith D et al.
Epilepsia Open, 2018
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report.
Casciato S et al.
The International Journal of Neuroscience, 2017
Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan.
Sullivan MA et al.
International Journal of Molecular Sciences, 2017
Lafora disease.
Turnbull J et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2016
Clinical and genetic data on Lafora disease patients of Serbian/Montenegrin origin.
Kecmanović M et al.
Clinical Genetics, 2016
Genetics of Lafora progressive myoclonic epilepsy: current perspectives.
Kecmanović M et al.
The Application of Clinical Genetics, 2016
Three patients with lafora disease: different clinical presentations and a novel mutation.
Poyrazoğlu HG et al.
Journal of Child Neurology, 2015
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Muona M et al.
Nature Genetics, 2015
Mild Lafora disease: clinical, neurophysiologic, and genetic findings.
Ferlazzo E et al.
Epilepsia, 2014
Are c.436G>A mutations less severe forms of Lafora disease? A case report.
Lanoiselée HM et al.
Epilepsy & Behavior Case Reports, 2014
Lafora disease: severe phenotype associated with homozygous deletion of the NHLRC1 gene.
Kecmanović M et al.
Journal of the Neurological Sciences, 2013
Deciphering the role of malin in the lafora progressive myoclonus epilepsy.
Romá-Mateo C et al.
Iubmb Life, 2012
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
Presentation of an unusual patient with Lafora disease.
Gökdemir S et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 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
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
The impact of genetics on the classification of epilepsy syndromes.
Zara F et al.
Epilepsia, 2009
Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy.
Vilchez D et al.
Nature Neuroscience, 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
Late-onset and slow-progressing Lafora disease in four siblings with EPM2B mutation.
Baykan B et al.
Epilepsia, 2005
Lafora disease due to EPM2B mutations: a clinical and genetic study.
Gómez-Abad C et al.
Neurology, 2005