Publications by the researcher in collaboration with Blanca González Méndez (11)

2020

  1. LipoDDx: A mobile application for identification of rare lipodystrophy syndromes

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

2019

  1. Does Seipin Play a Role in Oxidative Stress Protection and Peroxisome Biogenesis? New Insights from Human Brain Autopsies

    Neuroscience, Vol. 396, pp. 119-137

2018

  1. Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia's encephalopathy

    European Journal of Human Genetics, Vol. 26, Núm. 3, pp. 396-406

  2. Bone mineral density in familial partial lipodystrophy

    Clinical Endocrinology, Vol. 88, Núm. 1, pp. 44-50

2016

  1. Skipped BSCL2 transcript in celia's encephalopathy (PELD): New insights on fatty acids involvement, senescence and adipogenesis

    PLoS ONE, Vol. 11, Núm. 7

  2. Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome

    Endocrine, Vol. 54, Núm. 2, pp. 411-421

2015

  1. Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience

    Endocrine, Vol. 49, Núm. 1, pp. 139-147

2013

  1. A new seipin-associated neurodegenerative syndrome

    Journal of Medical Genetics, Vol. 50, Núm. 6, pp. 401-409

2012

  1. Histological and molecular features of lipomatous and nonlipomatous adipose tissue in familial partial lipodystrophy caused by LMNA mutations

    Clinical Endocrinology, Vol. 76, Núm. 6, pp. 816-824

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