Publicacións en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (16)

2023

  1. Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review

    Cells, Vol. 12, Núm. 5

2022

  1. Lipodystrophy-associated progeroid syndromes

    Hormones, Vol. 21, Núm. 4, pp. 555-571

2021

  1. Celia’s encephalopathy (Bscl2-gene-related): Current understanding

    Journal of Clinical Medicine, Vol. 10, Núm. 7

  2. Familial partial lipodystrophy syndromes

    Presse Medicale

  3. Variable expressivity and allelic heterogeneity in type 2 familial partial lipodystrophy: The p.(thr528met) lmna variant

    Journal of Clinical Medicine, Vol. 10, Núm. 7

  4. Variable expressivity in type 2 familial partial lipodystrophy related to r482 and n466 variants in the lmna gene

    Journal of Clinical Medicine, Vol. 10, Núm. 6, pp. 1-9

2020

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

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

2019

  1. Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant

    Neurogenetics

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

  3. Inflammatory myopathy in the context of an unusual overlapping laminopathy

    Archives of Endocrinology and Metabolism, Vol. 62, Núm. 3, pp. 376-382

2017

  1. Acantosis nigricans in severe insulin resistance syndromes

    Anales de Pediatria, Vol. 86, Núm. 3, pp. 166-168

2016

  1. 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

  2. Síndromes lipodistróficos infrecuentes

    Medicina Clinica, Vol. 144, Núm. 2, pp. 80-87

2013

  1. A new seipin-associated neurodegenerative syndrome

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