Publicacións en colaboración con investigadores/as de Consiglio Nazionale delle Ricerche (7)

2024

  1. Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip), Pisa, Italy, 28–29 September 2023

    Annales d'Endocrinologie

2020

  1. European lipodystrophy registry: Background and structure

    Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1

2019

  1. Altered adipocyte differentiation and unbalanced autophagy in type 2 Familial Partial Lipodystrophy: an in vitro and in vivo study of adipose tissue browning

    Experimental and Molecular Medicine, Vol. 51, Núm. 8

2018

  1. Laminopathies

    Nucleus (Austin, Tex.)

2010

  1. Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy

    Diabetic Medicine, Vol. 27, Núm. 10, pp. 1178-1187

2009

  1. Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy

    Journal of Medical Genetics, Vol. 46, Núm. 1, pp. 40-48

2008

  1. A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy

    Clinical Endocrinology, Vol. 69, Núm. 1, pp. 61-68