Associated Papers
Cardiac arrhythmia and epilepsy genetic variants in sudden unexpected death in epilepsy.
Aschner A et al.
Frontiers in Neurology, 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
37658439 (PubMed )
Supplement: 13023_2023_2880_MOESM2_ESM.xlsx › STAB1_EPM2A
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
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
A novel EPM2A mutation yields a slow progression form of Lafora disease.
Garcia-Gimeno MA et al.
Epilepsy Research, 2018
Degradation of altered mitochondria by autophagy is impaired in Lafora disease.
Lahuerta M et al.
The Febs Journal, 2018
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