AELIP

Asociación AELIP

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Publicaciones

  1. Elif A. Oral, Phillip Gorden, Elaine Cochran, David Araújo Vilar, David Savage, Alison Long, Gregory Fine, Taylor Salinardi, and Rebecca Brown. Long-term effectiveness and safety of metreleptin in the treatment of patients with partial lipodystrophy. Endocrine 2018 (submmited).
  2. Sofía Sánchez-Iglesias, Melissa Crocker, María del Mar O’Callaghan, Alejandra Darling, Rosario Domingo-Jimenez, Ana Castro, Antía Fernández-Pombo, Álvaro Ruibal, Pablo Aguiar, Miguel Garrido-Pumar, Antonio Rodríguez-Núñez, Julián Alvarez-Escudero, Rebecca Brown, David Araújo-Vilar.  Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change into a known variant. Neurogenetics 2018 (submmited).
  3. Sánchez-Iglesias S, Fernández-Liste A, Guillín-Amarelle C, Rábano A, Rodriguez-Cañete L, González-Méndez B, Fernández-Pombo A, Senra A, Araújo-Vilar D.  Does Seipin Play a Role in Oxidative Stress Protection and Peroxisome Biogenesis? New Insights from Human Brain Autopsies. Neuroscience. 2018 Nov 15;396:119-137. doi: 10.1016/j.neuroscience.2018.11.004.
  4. Araújo-Vilar D , Sánchez-Iglesias S, Guillín-Amarelle C, Fernández-Pombo A, Senra A. Guía Práctica pra el Diagnóstico y Tratamiento de las Lipodistrofias Infrecuentes. Ed. AELIP. Editores: Juan Carrión, Naca Pérez de Tudela, David Araújo-Vilar. ISBN: 978-84-09-06483-0, Totana 2018
  5. Corvillo F, Aparicio V, López-Lera A, Garrido S, Araújo-Vilar D, de Miguel MP, López-Trascasa M. Autoantibodies Against Perilipin 1 as a Cause of Acquired Generalized Lipodystrophy. Front Immunol. 2018 Sep 19;9:2142. doi: 10.3389/fimmu.2018.02142. eCollection 2018.
  6. Guillín-Amarelle C, Sánchez-Iglesias S, Mera A, Pintos E, Castro-Pais A, Rodríguez-Cañete L, Pardo J, Casanueva FF, Araújo-Vilar D. Inflammatory myopathy in the context of an unusual overlapping laminopathy. Arch Endocrinol Metab. 2018 Jun;62(3):376-382. doi: 10.20945/2359-3997000000048.
  7. Araújo-Vilar D, Santini F.  Diagnosis and treatment of lipodystrophy: a step-by-step approach. J Endocrinol Invest. 2018 Apr 27. doi: 10.1007/s40618-018-0887-z.
  8. Brown RJ, Oral EA, Cochran E, Araújo-Vilar D, Savage DB, Long A, Fine G, Salinardi T, Gorden P.  Long-term effectiveness and safety of metreleptin in the treatment of patients with generalized lipodystrophy. Endocrine. 2018 Jun;60(3):479-489. doi: 10.1007/s12020-018-1589-1.
  9. Guillín-Amarelle C, Fernández-Pombo A, Sánchez-Iglesias S, Araújo-Vilar D. Lipodystrophic laminopathies: Diagnostic clues. Nucleus. 2018 Jan 1;9(1):249-260. doi: 10.1080/19491034.2018.1454167.
  10. Araújo-Vilar D, Domingo-Jiménez R, Ruibal Á, Aguiar P, Ibáñez-Micó S, Garrido-Pumar M, Martínez-Olmos MÁ, López-Soler C, Guillín-Amarelle C, González-Rodríguez M, Rodríguez-Núñez A, Álvarez-Escudero J, Liñares-Paz M, González-Méndez B, Rodríguez-García S, Sánchez-Iglesias S.  Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia's encephalopathy. Eur J Hum Genet. 2018 Mar;26(3):396-406. doi: 10.1038/s41431-017-0052-8
  11. Fernández-Pombo A, Ossandon-Otero JA, Guillín-Amarelle C, Sánchez-Iglesias S, Castro AI, González-Méndez B, Rodríguez-García S, Rodriguez-Cañete L, Casanueva FF, Araújo-Vilar D.  Bone mineral density in familial partial lipodystrophy. Clin Endocrinol (Oxf). 2018 Jan;88(1):44-50. doi: 10.1111/cen.13504. 
  12. Chiquette E, Oral EA, Garg A, Araújo-Vilar D, Dhankhar P. Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges. Diabetes Metab Syndr Obes. 2017 Sep 13;10:375-383. doi: 10.2147/DMSO.S130810. eCollection 2017.
  13. Tu Y, Sánchez-Iglesias S, Araújo-Vilar D, Fong LG, Young SG.  LMNA missense mutations causing familial partial lipodystrophy do not lead to an accumulation of prelamin A. Nucleus. 2016 Sep 2;7(5):512-521.
  14. 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.  Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome. Endocrine. 2016 Nov;54(2):411-421.
  15. Brown RJ, Araujo-Vilar D, Cheung PT, Dunger D, Garg A, Jack M, Mungai L, Oral EA, Patni N, Rother KI, von Schnurbein J, Sorkina E, Stanley T, Vigouroux C, Wabitsch M, Williams R, Yorifuji T. The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline. J Clin Endocrinol Metab. 2016 Dec;101(12):4500-4511.
  16. Panikkath R, Panikkath D, Sanchez-Iglesias S, Araujo-Vilar D, Lado-Abeal J. An Uncommon Association of Familial Partial Lipodystrophy, Dilated Cardiomyopathy, and Conduction System Disease. J Investig Med High Impact Case Rep. 2016 Jul 15;4(3):2324709616658495. doi: 10.1177/2324709616658495.
  17. Jéru I, Vatier C, Araujo-Vilar D, Vigouroux C, Lascols O. Clinical Utility Gene Card for: Familial partial lipodystrophy. Eur J Hum Genet. 2017 Feb;25(2). doi: 10.1038/ejhg.2016.102.
  18. 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. Skipped BSCL2 Transcript in Celia's Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and Adipogenesis. PLoS One. 2016 Jul 8;11(7):e0158874. doi: 10.1371/journal.pone.0158874. 
  19. Jéru I, Vatier C, Araujo-Vilar D, Vigouroux C, Lascols O.Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy. Eur J Hum Genet. 2016 Nov;24(11). doi: 10.1038/ejhg.2016.53. 
  20. Araújo-Vilar D, Barreiro J, Sánchez-Iglesias S, Guillín-Amarelle C.[Acantosis nigricans in severe insulin resistance syndromes]. An Pediatr (Barc). 2017 Mar;86(3):166-168. doi: 10.1016/j.anpedi.2016.01.003.
  21. Ruiz-Riquelme A, Sánchez-Iglesias S, Rábano A, Guillén-Navarro E, Domingo-Jiménez R, Ramos A, Rosa I, Senra A, Nilsson P, García Á, Araújo-Vilar D, Requena JR. Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease. Neurobiol Dis. 2015 Nov;83:44-53. doi: 10.1016/j.nbd.2015.08.006.
  22. Araujo-Vilar D, Sánchez-Iglesias S, Guillín-Amarelle C, Castro A, Lage M, Pazos M, Rial JM, Blasco J, Guillén-Navarro E, Domingo-Jiménez R, del Campo MR, González-Méndez B, Casanueva FF. Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience. Endocrine. 2015 May;49(1):139-47. doi: 10.1007/s12020-014-0450-4. 
  23. Guillín-Amarelle C, Sánchez-Iglesias S, Araújo-Vilar D. [Uncommon lipodystrophic syndromes]. Med Clin (Barc). 2015 Jan 20;144(2):80-7. doi: 10.1016/j.medcli.2014.02.024.
  24. 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. A new seipin-associated neurodegenerative syndrome. J Med Genet. 2013 Jun;50(6):401-9. doi: 10.1136/jmedgenet-2013-101525.
  25. Araújo-Vilar D, Victoria B, González-Méndez B, Barreiro F, Fernández-Rodríguez B, Cereijo R, Gallego-Escuredo JM, Villarroya F, Pañeda-Menéndez A. Histological and molecular features of lipomatous and nonlipomatous adipose tissue in familial partial lipodystrophy caused by LMNA mutations. Clin Endocrinol (Oxf). 2012 Jun;76(6):816-24. doi: 10.1111/j.1365-2265.2011.04208.x.
  26. Araújo-Vilar D. [Congenital generalized lipodystrophy versus Berardinelli-Seip syndrome]. An Pediatr (Barc). 2011 Jun;74(6):423-4; author reply 424-6. doi: 10.1016/j.anpedi.2010.12.015.
  27. Peteiro-González D, Fernández-Rodríguez B, Cabezas-Agrícola JM, Araújo-Vilar D. Severe localized lipoatrophy related to therapy with insulin analogs in type 1a diabetes mellitus. Diabetes Res Clin Pract. 2011 Mar;91(3):e61-3. doi: 10.1016/j.diabres.2010.11.026. 
  28. Victoria B, Cabezas-Agrícola JM, González-Méndez B, Lattanzi G, Del Coco R, Loidi L, Barreiro F, Calvo C, Lado-Abeal J, Araújo-Vilar D. Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy. Diabet Med. 2010 Oct;27(10):1178-87. doi: 10.1111/j.1464-5491.2010.03052.x
  29. Lado-Abeal J, Calvo RM, Victoria B, Castro I, Obregon MJ, Araujo-Vilar D. Regional decrease of subcutaneous adipose tissue in patients with type 2 familial partial lipodystrophy is associated with changes in thyroid hormone metabolism. Thyroid. 2010 Apr;20(4):419-24. doi: 10.1089/thy.2009.0267.
  30. Domínguez-Gerpe L, Araújo-Vilar D. Prematurely aged children: molecular alterations leading to Hutchinson-Gilford progeria and Werner syndromes. Curr Aging Sci. 2008 Dec;1(3):202-12
  31. Araújo-Vilar D, Lattanzi G, González-Méndez B, Costa-Freitas AT, Prieto D, Columbaro M, Mattioli E, Victoria B, Martínez-Sánchez N, Ramazanova A, Fraga M, Beiras A, Forteza J, Domínguez-Gerpe L, Calvo C, Lado-Abeal J.  Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy. J Med Genet. 2009 Jan;46(1):40-8. doi: 10.1136/jmg.2008.059485.
  32. Araújo-Vilar D, Lado-Abeal J, Palos-Paz F, Lattanzi G, Bandín MA, Bellido D, Domínguez-Gerpe L, Calvo C, Pérez O, Ramazanova A, Martínez-Sánchez N, Victoria B, Costa-Freitas AT.  A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy. Clin Endocrinol (Oxf). 2008 Jul;69(1):61-8.
  33. Araújo-Vilar D, Loidi L, Domínguez F, Cabezas-Cerrato J.  Phenotypic gender differences in subjects with familial partial lipodystrophy (Dunnigan variety) due to a nuclear lamin A/C R482W mutation. Horm Metab Res. 2003 Jan;35(1):29-35.
Dirección:
David Araújo-Vilar, MD PhD
UETeM, Lab 3, 2º andar
CIMUS-Universidade de Santiago de Compostela
Avda Barcelona s/n
15707 Santiago de Compostela
España
mail: lipodistrofias@gmail.com
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