A novel EPM2A mutation yields a slow progression form of Lafora disease
Author:
Funder
Spanish Ministry of Economy and Competitiveness
Generalitat Valenciana
National Institute of Health
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology
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1. Epm2aR240X knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a mice;Neurobiology of Disease;2023-06
2. Novel mutation of EPM2A causes progressive myoclonic epilepsy: a case report;Neurological Sciences;2022-03-07
3. An empirical pipeline for personalized diagnosis of Lafora disease mutations;iScience;2021-11
4. Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis;Orphanet Journal of Rare Diseases;2021-08-16
5. NATURAL HISTORY OF LAFORA DISEASE A Prognostic Systematic Review and Individual Participant Data Meta-Analysis;2021-06-20
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