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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BlackWell Publishing Ltd
2014
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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 |
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