Filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 10/31/2025
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 1635 publications
Challenges in Polyglutamine Diseases: From Dysfunctional Neuronal Circuitries to Neuron-Specific CAG Repeat Instability.
Journal: International journal of molecular sciences
Published: August 21, 2025
Disrupted Transcriptional Networks by Mutant Atrophin-1 in a Cell Culture Model of Dentatorubral-Pallidoluysian Atrophy.
Journal: bioRxiv : the preprint server for biology
Published: August 20, 2025
Beyond Seizures: A Comprehensive Review of Giant Somatosensory Evoked Potentials.
Journal: Journal of clinical medicine
Published: July 10, 2025
Correction for Article Title "The laforin-malin complex, involved in Lafora disease, promotes the incorporation of K63-linked ubiquitin chains into AMP-activated protein kinase beta subunits".
Journal: Molecular biology of the cell
Published: July 01, 2025
Selective muscle MRI changes in a patient with a rare mitochondrial DNA variant causing myoclonic epilepsy with ragged red fibres.
Journal: Neuromuscular disorders : NMD
Published: June 27, 2025
Navigating the diagnostic challenges of myoclonus in neurodegenerative disorders: video-EEG/polygraphy, clinical vignettes, and narrative analysis.
Journal: Frontiers in neurology
Published: June 27, 2025
The 9th annual Lafora science symposium: a rare epilepsy community makes progress towards clinical readiness.
Journal: Epilepsy & behavior : E&B
Published: June 26, 2025
The genetic landscape of spinocerebellar ataxias in Taiwan: Insights from 876 genetically confirmed cases.
Journal: Parkinsonism & related disorders
Published: June 25, 2025
Eyelid myoclonia in Lafora disease: Diagnostic and clinical challenges.
Journal: Epileptic disorders : international epilepsy journal with videotape
Published: June 23, 2025
Autosomal dominant Kufs disease in a Georgian adult woman: A case report.
Journal: Epilepsy & behavior reports
Published: May 30, 2025
The challenge of ultra-rarity: Dual diagnosis of Lafora disease and developmental encephalopathies linked to TRIO and SHANK3 pathogenic variants.
Journal: Epilepsia open
Published: May 17, 2025
Refractory myoclonic epilepsy and progressive movement disorder arising from recurrent DHDDS variants in Japanese patients: a case series.
Journal: Brain & development
Published: May 14, 2025
Last Updated: 10/31/2025