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Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy

OBJECTIVE: Ceramides are precursors of complex sphingolipids (SLs), which are important for normal functioning of both the developing and mature brain. Altered SL levels have been associated with many neurodegenerative disorders, including epilepsy, although few direct links have been identified bet...

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Detalles Bibliográficos
Autores principales: Mosbech, Mai-Britt, Olsen, Anne S B, Neess, Ditte, Ben-David, Oshrit, Klitten, Laura L, Larsen, Jan, Sabers, Anne, Vissing, John, Nielsen, Jørgen E, Hasholt, Lis, Klein, Andres D, Tsoory, Michael M, Hjalgrim, Helle, Tommerup, Niels, Futerman, Anthony H, Møller, Rikke S, Færgeman, Nils J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4212479/
https://www.ncbi.nlm.nih.gov/pubmed/25356388
http://dx.doi.org/10.1002/acn3.28