• (1)H and (31)P magnetic resonance spectroscopy reveals potential pathogenic and biomarker metabolite alterations in Lafora disease
• A novel compound heterozygous EPM2A variant in a Chinese family with Lafora disease
• Age-Related microRNA Overexpression in Lafora Disease Male Mice Provides Links between Neuroinflammation and Oxidative Stress
• Amylopectinosis of the fatal epilepsy Lafora disease resists autophagic glycogen catabolism
• Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease
• Beneficial Effect of Fingolimod in a Lafora Disease Mouse Model by Preventing Reactive Astrogliosis-Derived Neuroinflammation and Brain Infiltration of T-lymphocytes
• Biochemistry, Glycogenesis
• Clinical Signs in 166 Beagles with Different Genotypes of Lafora
• Clinicopathologic Dissociation: Robust Lafora Body Accumulation in Malin KO Mice Without Observable Changes in Home-cage Behavior
• Clinicopathologic Dissociation: Robust Lafora Body Accumulation in Malin KO Mice Without Observable Changes in Home-Cage Behavior
• Current avenues of gene therapy in Pompe disease
• Deciphering the Polyglucosan Accumulation Present in Lafora Disease Using an Astrocytic Cellular Model
• Effect of intracerebroventricular administration of alglucosidase alfa in two mouse models of Lafora disease: Relevance for clinical practice
• Epm2a^R240X knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a^-/- mice
• Gene replacement therapy for Lafora disease in the <em>Epm2a ^-/-</em> mouse model
• Gene replacement therapy for Lafora disease in the Epm2a (-/-) mouse model
• Gene therapy for Lafora disease in the Epm2a(-/-) mouse model
• Glial Contributions to Lafora Disease: A Systematic Review
• Gys1 Antisense Therapy Prevents Disease-Driving Aggregates and Epileptiform Discharges in a Lafora Disease Mouse Model
• Impaired malin expression and interaction with partner proteins in Lafora disease
• Incidence and characterization of polyglucosan bodies in the cerebella of montserrat orioles (<em>Icterus oberi</em>)
• Lafora Disease
• Lafora Disease: A Case Report and Evolving Treatment Advancements
• Lafora progressive myoclonus epilepsy: Disease mechanism and therapeutic attempts
• Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy
• Magnetic resonance imaging pattern recognition of metabolic and neurodegenerative encephalopathies in dogs and cats
• MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease
• Myofiber-type-dependent 'boulder' or 'multitudinous pebble' formations across distinct amylopectinoses
• Neurophysiology of Juvenile and Progressive Myoclonic Epilepsy
• P-Rex1 is a novel substrate of the E3 ubiquitin ligase Malin associated with Lafora disease
• Polyglucosan body density in the aged mouse hippocampus is controlled by a novel modifier locus on chromosome 1
• Polyglucosan body disease in an aged chimpanzee (Pan troglodytes)
• Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data
• Progressive myoclonic epilepsy: a retrospective study of newly-diagnosed adult patients from a single center
• Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances
• Proteomic profiling of polyglucosan bodies associated with glycogenin-1 deficiency in skeletal muscle
• Quantitative proteomics unveils known and previously unrecognized alterations in neuropathic nerves
• Real-world experience with cannabidiol as add-on treatment in drug-resistant epilepsy
• Retinal Phenotyping of a Murine Model of Lafora Disease
• Retinal vascular pathology in a mouse model of Lafora progressive myoclonus epilepsy
• Role of Astrocytes in the Pathophysiology of Lafora Disease and Other Glycogen Storage Disorders
• Sodium-glucose cotransporter-2 inhibitors: A potential novel treatment for Lafora disease?
• The involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis
• The multifaceted roles of the brain glycogen
• TNF and IL6/Jak2 signaling pathways are the main contributors of the glia-derived neuroinflammation present in Lafora disease, a fatal form of progressive myoclonus epilepsy