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Cystatin B is essential for proliferation and interneuron migration in individuals with EPM1 epilepsy
Progressive myoclonus epilepsy (PME) of Unverricht–Lundborg type (EPM1) is an autosomal recessive neurodegenerative disorder with the highest incidence of PME worldwide. Mutations in the gene encoding cystatin B (CSTB) are the primary genetic cause of EPM1. Here, we investigate the role of CSTB duri...
Autores principales: | Di Matteo, Francesco, Pipicelli, Fabrizia, Kyrousi, Christina, Tovecci, Isabella, Penna, Eduardo, Crispino, Marianna, Chambery, Angela, Russo, Rosita, Ayo‐Martin, Ane Cristina, Giordano, Martina, Hoffmann, Anke, Ciusani, Emilio, Canafoglia, Laura, Götz, Magdalena, Di Giaimo, Rossella, Cappello, Silvia |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7278547/ https://www.ncbi.nlm.nih.gov/pubmed/32378798 http://dx.doi.org/10.15252/emmm.201911419 |
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