Artículos científicos sobre la encefalopatia de Celia
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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
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