Associated Papers
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
An empirical pipeline for personalized diagnosis of Lafora disease mutations.
Brewer MK et al.
Iscience, 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
Three patients with lafora disease: different clinical presentations and a novel mutation.
Poyrazoğlu HG et al.
Journal of Child Neurology, 2015
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