ARTÍCULOS CIENTÍFICOS SOBRE LA ENCEFALOPATIA DE CELIA
Descargas :
-
1. A new seipin-associated neurodegenerative syndrome 06-04-2013
-
2. Larger aggregates of mutant seipin in Celia 15-08-2015
-
3. Skipped BSCL2 Transcript in Celia’s Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and Adipogenesis 12-04-2016
-
4. Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia’s encephalopathy 15-05-2017
-
5. Does Seipin Play a Role in Oxidative Stress Protection and Peroxisome Biogenesis? New Insights from Human Brain Autopsies 15-11-2018
-
6. Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant 17-03-2019
-
7. A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy 24-07-2019
-
8. LipoDDx: a mobile application for identification of rare lipodystrophy syndromes 02-04-2020
-
9. Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome 26-09-2020
-
10. Celia’s Encephalopathy (BSCL2-Gene-Related): Current Understanding 27-03-2021
-
11. Proceedings of the annual meeting Lipodystrophies of the European Consortium of (ECLip) Cambridge, UK, 7–8 April 2022 07-04-2022