Disease: Dentatorubral pallidoluysian atrophy
- <em>DHDDS</em>-related disease; biallelic missense novel variant causing major severity with an early-onset epilepsy and hyperkinetic movement disorder
- A Case of Congenital Hypotonia and Developmental Delay in an Individual with a <em>De Novo</em> Variant Outside of the Canonical HX-Motif of ATN1
- A female patient with adolescent-onset progressive myoclonus epilepsy carrying a truncating MECP2 mutation
- A novel INPP4A mutation with pontocerebellar hypoplasia, myoclonic epilepsy, microcephaly, and severe developmental delay
- Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions
- Adult-onset Kufs 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
- An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches
- Atrophin-1 Function and Dysfunction in Dentatorubral-Pallidoluysian Atrophy
- Beneficial Effect of Fingolimod in a Lafora Disease Mouse Model by Preventing Reactive Astrogliosis-Derived Neuroinflammation and Brain Infiltration of T-lymphocytes
- Clinical and genetic study of developmental and epileptic encephalopathy in Argentinean pediatric patients
- 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
- Conventional and novel anti-seizure medications reveal a particular role for GABA(A) in a North Sea progressive myoclonus Epilepsy Drosophila model
- Cortico-muscular coherence and brain networks in familial adult myoclonic epilepsy and progressive myoclonic epilepsy
- Could miglustat be a potential candidate in the treatment of action myoclonus renal failure syndrome?
- CSTB gene replacement improves neuroinflammation, neurodegeneration and ataxia in murine type 1 progressive myoclonus epilepsy
- Dancing, Lurching and Swaying: An Indian Case of Dentatorubral-Pallidoluysian Atrophy
- Deciphering the Polyglucosan Accumulation Present in Lafora Disease Using an Astrocytic Cellular Model
- Dentatorubral Pallidoluysian Atrophy
- Dentatorubral Pallidoluysian Atrophy
- Dentatorubral-pallidoluysian atrophy: a rare cause of epilepsy, ataxia and chorea
- Detecting negative myoclonus during long-term home measurements using wearables
- Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain
- Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing
- Differential diagnosis of familial adult myoclonic epilepsy
- Early-onset familial essential tremor is associated with nucleotide expansions of spinocerebellar ataxia in China
- Effect of intracerebroventricular administration of alglucosidase alfa in two mouse models of Lafora disease: Relevance for clinical practice
- Effect of levodopa on pathological gait in Dravet syndrome: A randomized crossover trial using three-dimensional gait analysis
- Epm2a<sup>R240X</sup> knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a<sup>-/-</sup> mice
- Establishing resources and increasing awareness to advance research on Dentatorubral-pallidoluysian atrophy toward a treatment: a patient organization perspective
- Familial Adult Myoclonic Epilepsy: Clinical and Genetic Approach to an Under-recognized Disease
- Familial adult myoclonus epilepsy: a pragmatic approach
- Familial adult myoclonus epilepsy: Clinical findings, disease course, and comorbidities
- Frontal deficits and atrophy in a patient with familial encephalopathy with neuroserpin inclusion bodies detected by single-case voxel-based morphometry: a case report
- Gene therapy for Lafora disease in the Epm2a<sup>-/-</sup> mouse model
- Generation of a human induced pluripotent stem cell line (UEFi004-A) from a patient with progressive myoclonic epilepsy type 1 (EPM1)
- Globus Pallidus Internus (GPi) Neuromodulation is Not Effective in Unverricht-Lundborg Disease to Control Myoclonia
- Gys1 Antisense Therapy Prevents Disease-Driving Aggregates and Epileptiform Discharges in a Lafora Disease Mouse Model
- History of familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy around the world
- Identification of new variants in MTRNR1 and MTRNR2 genes using whole mitochondrial genome sequencing in a Taiwanese family with MERRF (myoclonic epilepsy with ragged-red fibers) syndrome
- ILAE Genetics Literacy series: Progressive myoclonus epilepsies
- Impaired malin expression and interaction with partner proteins in Lafora disease
- Infantile-onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!
- Intracerebral Distribution of CAG Repeat-Binding Small Molecule Visualized by Whole-Brain Imaging
- IRF2BPL as a novel causative gene for progressive myoclonus epilepsy
- IRF2BPL: A new genotype for progressive myoclonus epilepsies
- Isolated paravermal T2 high-intensity lesions in dentatorubral-pallidoluysian atrophy
- KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature
- Lafora Disease
- Lafora Disease
- Lafora Disease: A Case Report and Evolving Treatment Advancements
- Lafora progressive myoclonus epilepsy: Disease mechanism and therapeutic attempts
- Machine Learning Approach for the Prediction of Age-Specific Probability of SCA3 and DRPLA by Survival Curve Analysis
- Metabolic causes of pediatric developmental & epileptic encephalopathies (DEE)- genetic variant analysis in a south Indian cohort
- Mitochondrial impairment and synaptic dysfunction are associated with neurological defects in iPSCs-derived cortical neurons of MERRF patients
- MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease
- Myoclonic status epilepticus in non-progressive encephalopathies within the GRIN2A-associated epilepsy-aphasia spectrum
- Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report
- Negative myoclonus causes locomotory disability in progressive myoclonus epilepsy type EPM1- Unverricht-Lundborg disease
- Neurophysiology of Juvenile and Progressive Myoclonic Epilepsy
- NEXMIF Epilepsy: An Alternative Cause of Progressive Myoclonus
- Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution
- Novel Genetic and Phenotypic Expansion in <em>GOSR2</em>-Related Progressive Myoclonus Epilepsy
- Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy
- Novel NUS1 variant in a Chinese patient with progressive myoclonus epilepsy: a case report and systematic review
- Opening the K(V)3.1 gates: A therapeutic strategy for progressive myoclonus epilepsy type 7?
- P-Rex1 is a novel substrate of the E3 ubiquitin ligase Malin associated with Lafora disease
- Pathological Deficit of Cystatin B Impairs Synaptic Plasticity in EPM1 Human Cerebral Organoids
- Polyglutamine (PolyQ) Diseases: Navigating the Landscape of Neurodegeneration
- Polyglutamine disease proteins: Commonalities and differences in interaction profiles and pathological effects
- PolyQ Database-an integrated database on polyglutamine diseases
- Prevalence of repeat expansions causing autosomal dominant spinocerebellar ataxias in Hokkaido, the northernmost island of Japan
- Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data
- Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature
- Progressive myoclonic epilepsy in the department of neurology of the University Teaching hospital Point "G"
- Progressive myoclonic epilepsy type 1 (EPM1) patients present with abnormal (1)H MRS brain metabolic profiles associated with cognitive function
- Progressive myoclonic epilepsy type 1 (EPM1) patients present with abnormal <sup>1</sup>H MRS brain metabolic profiles associated with cognitive function
- Progressive myoclonic epilepsy: a retrospective study of newly-diagnosed adult patients from a single center
- Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes
- Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances
- Restoration of mitochondrial function through activation of hypomodified tRNAs with pathogenic mutations associated with mitochondrial diseases
- Retinal Phenotyping of a Murine Model of Lafora Disease
- Retinal vascular pathology in a mouse model of Lafora progressive myoclonus epilepsy
- Rhythmic cortical myoclonus in patients with 6Q22.1 deletion
- 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?
- Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum
- Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency
- Targeted therapy improves cellular dysfunction, ataxia, and seizure susceptibility in a model of a progressive myoclonus epilepsy
- The assessment of the impact of antiepileptic drugs on cognitive functions via N-200/P-300 potentials and neuropsychological measures
- The involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis
- The Muddle of Myoclonus: Many Guises, 2 Disciplines, Consensus Needed
- The relationship between the number of CAG repeats and clinical manifestations: a survey of Chinese DRPLA family
- The Roles of Cystatin B in the Brain and Pathophysiological Mechanisms of Progressive Myoclonic Epilepsy Type 1
- Transcranial magnetic stimulation in progressive myoclonus epilepsy: A promising tool for "deep phenotyping" in genetic epilepsies
- Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring
- Understanding dentatorubral-pallidoluysian atrophy (DRPLA) symptoms and impacts on daily life: a qualitative interview study with patients and caregivers
- Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families