• Publications
  • Influence

Claim Your Author Page
Ensure your research is discoverable on Semantic Scholar. Claiming your author page allows you to personalize the information displayed and manage publications (all current information on this profile has been aggregated automatically from publisher and metadata sources).
  • Saara Tegelberg, Outi H. Kopra, Tarja Joensuu, Jonathan D Cooper, A. -E. Lehesjoki
  • Biology, Medicine
  • Journal of neuropathology and experimental…
  • 2012
  • Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) is a hereditary neurodegenerative disorder caused by mutations in the cystatin B (CSTB) gene encoding an inhibitor of cysteineContinue Reading