Associated Papers
Axonal polyneuropathy in Lafora disease with a newly identified EPM2A mutation: a case report and review of literature.
Razmeh S et al.
Journal of Neurology, 2025
Generation of a human induced pluripotent stem cell line (CIBIOi007-A) from a Lafora disease patient.
Trentini G et al.
Stem Cell Research, 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
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J et al.
Npj Genomic Medicine, 2024
Lafora progressive myoclonus epilepsy: Disease mechanism and therapeutic attempts.
Parihar R et al.
Journal of Biosciences, 2024
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
Epm2aR240X knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a-/- mice.
Burgos DF et al.
Neurobiology of Disease, 2023
Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease.
d'Orsi G et al.
Frontiers in Neurology, 2023
Trehalose Treatment in Zebrafish Model of Lafora Disease.
Della Vecchia S et al.
International Journal of Molecular Sciences, 2022
An empirical pipeline for personalized diagnosis of Lafora disease mutations.
Brewer MK et al.
Iscience, 2021
Retinal alterations in patients with Lafora disease.
Heitkotter H et al.
American Journal of Ophthalmology Case Reports, 2021
Endocytosis of the glutamate transporter 1 is regulated by laforin and malin: Implications in Lafora disease.
Perez-Jimenez E et al.
Glia, 2021
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
Lafora disease - from pathogenesis to treatment strategies.
Nitschke F et al.
Nature Reviews. Neurology, 2018
A novel EPM2A mutation yields a slow progression form of Lafora disease.
Garcia-Gimeno MA et al.
Epilepsy Research, 2018
Lafora Disease: A Ubiquitination-Related Pathology.
García-Gimeno MA et al.
Cells, 2018
Lafora disease: from genotype to phenotype.
Parihar R et al.
Journal of Genetics, 2018
Degradation of altered mitochondria by autophagy is impaired in Lafora disease.
Lahuerta M et al.
The Febs Journal, 2018
Extraneurological sparing in long-lived typical Lafora disease.
Goldsmith D et al.
Epilepsia Open, 2018
Lafora disease.
Turnbull J et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2016
Lafora disease: psychiatric manifestations, cognitive decline, and visual hallucinations.
El Tahry R et al.
Acta Neurologica Belgica, 2015
Increased oxidative stress and impaired antioxidant response in Lafora disease.
Romá-Mateo C et al.
Molecular Neurobiology, 2015
Mild Lafora disease: clinical, neurophysiologic, and genetic findings.
Ferlazzo E et al.
Epilepsia, 2014
Late onset Lafora disease and novel EPM2A mutations: breaking paradigms.
Jara-Prado A et al.
Epilepsy Research, 2014
Laforin, a protein with many faces: glucan phosphatase, adapter protein, et alii.
Gentry MS et al.
The Febs Journal, 2013
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
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.
Lesca G et al.
Epilepsia, 2010
Laforin, the most common protein mutated in Lafora disease, regulates autophagy.
Aguado C et al.
Human Molecular Genetics, 2010
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
Regulation of glycogen synthesis by the laforin-malin complex is modulated by the AMP-activated protein kinase pathway.
Solaz-Fuster MC et al.
Human Molecular Genetics, 2008
Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora.
Gómez-Garre P et al.
Neurology, 2007
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
Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes.
Ianzano L et al.
Human Mutation, 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
Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation.
Fernández-Sánchez ME et al.
Human Molecular Genetics, 2003
Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions.
Gómez-Garre P et al.
European Journal of Human Genetics : Ejhg, 2000
Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes.
Ganesh S et al.
Human Molecular Genetics, 2000
Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy.
Minassian BA et al.
Neurology, 2000
Lafora disease: a case report, pathologic and genetic study.
Harirchian MH et al.
Indian Journal of Pathology & Microbiology, 0
A Novel Mutation in Lafora Disease and Update on Pathophysiology and Future Treatments.
Nordli DR et al.
Child Neurology Open, 0