Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Isabella Tovecci"'
Autor:
Francesco Di Matteo, Fabrizia Pipicelli, Christina Kyrousi, Isabella Tovecci, Eduardo Penna, Marianna Crispino, Angela Chambery, Rosita Russo, Ane Cristina Ayo‐Martin, Martina Giordano, Anke Hoffmann, Emilio Ciusani, Laura Canafoglia, Magdalena Götz, Rossella Di Giaimo, Silvia Cappello
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 6, Pp 1-21 (2020)
Abstract 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 gene
Externí odkaz:
https://doaj.org/article/d7924a20df5e4060b7e35a5b2deeec27
Autor:
Christina Kyrousi, Francesco Di Matteo, Rossella Di Giaimo, Laura Canafoglia, Marianna Crispino, Fabrizia Pipicelli, Isabella Tovecci, Rosita Russo, Martina Giordano, Ane Cristina Ayo-Martin, Anke Hoffmann, Eduardo Penna, Angela Chambery, Emilio Ciusani, Magdalena Götz, Silvia Cappello
Publikováno v:
EMBO Molecular Medicine
EMBO Molecular Medicine, Vol 12, Iss 6, Pp n/a-n/a (2020)
EMBO Molecular Medicine, Vol 12, Iss 6, Pp n/a-n/a (2020)
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a145c09b3277e23392b863ac0acc084
http://hdl.handle.net/11591/430276
http://hdl.handle.net/11591/430276
