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Celia's Encephalopathy (BSCL2-Gene-Related): Current Understanding.
Sánchez-Iglesias S, Fernández-Pombo A, Cobelo-Gómez S, Hermida-Ameijeiras Á, Alarcón-Martínez H, Domingo-Jiménez R, Ruíz Riquelme AI, Requena JR, Araújo-Vilar D. Sánchez-Iglesias S, et al. J Clin Med. 2021 Apr 1;10(7):1435. doi: 10.3390/jcm10071435. J Clin Med. 2021. PMID: 33916074 Free PMC article. Review.
A new seipin-associated neurodegenerative syndrome.
Guillén-Navarro E, Sánchez-Iglesias S, Domingo-Jiménez R, Victoria B, Ruiz-Riquelme A, Rábano A, Loidi L, Beiras A, González-Méndez B, Ramos A, López-González V, Ballesta-Martínez MJ, Garrido-Pumar M, Aguiar P, Ruibal A, Requena JR, Araújo-Vilar D. Guillén-Navarro E, et al. J Med Genet. 2013 Jun;50(6):401-9. doi: 10.1136/jmedgenet-2013-101525. Epub 2013 Apr 6. J Med Genet. 2013. PMID: 23564749
[Uncommon lipodystrophic syndromes].
Guillín-Amarelle C, Sánchez-Iglesias S, Araújo-Vilar D. Guillín-Amarelle C, et al. Med Clin (Barc). 2015 Jan 20;144(2):80-7. doi: 10.1016/j.medcli.2014.02.024. Epub 2014 Apr 29. Med Clin (Barc). 2015. PMID: 24787681 Review. Spanish. No abstract available.
[Acantosis nigricans in severe insulin resistance syndromes].
Araújo-Vilar D, Barreiro J, Sánchez-Iglesias S, Guillín-Amarelle C. Araújo-Vilar D, et al. An Pediatr (Barc). 2017 Mar;86(3):166-168. doi: 10.1016/j.anpedi.2016.01.003. Epub 2016 Feb 15. An Pediatr (Barc). 2017. PMID: 26899667 Free article. Spanish. No abstract available.
Skipped BSCL2 Transcript in Celia's Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and Adipogenesis.
Sánchez-Iglesias S, Unruh-Pinheiro A, Guillín-Amarelle C, González-Méndez B, Ruiz-Riquelme A, Rodríguez-Cañete BL, Rodríguez-García S, Guillén-Navarro E, Domingo-Jiménez R, Araújo-Vilar D. Sánchez-Iglesias S, et al. PLoS One. 2016 Jul 8;11(7):e0158874. doi: 10.1371/journal.pone.0158874. eCollection 2016. PLoS One. 2016. PMID: 27391332 Free PMC article.
Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome.
Guillín-Amarelle C, Sánchez-Iglesias S, Castro-Pais A, Rodriguez-Cañete L, Ordóñez-Mayán L, Pazos M, González-Méndez B, Rodríguez-García S, Casanueva FF, Fernández-Marmiesse A, Araújo-Vilar D. Guillín-Amarelle C, et al. Endocrine. 2016 Nov;54(2):411-421. doi: 10.1007/s12020-016-1002-x. Epub 2016 Jul 30. Endocrine. 2016. PMID: 27473102
85 results