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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...
ORGANISM(S): Homo sapiens (Human) 
2020-05-13 | PXD018021 | Pride
In this study we aimed to provide a detailed comparative description of the fragmentation sites of amyloid LCs in multiple organs of an individual patient.
ORGANISM(S): Homo sapiens (Human) 
2022-08-12 | PXD025185 | Pride
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