Publicacións en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (23)

2025

  1. Metabolic-Associated Steatotic Liver Disease and FGF21 Dysregulation in Seipin-Deficient and BSCL2-Associated Celia’s Encephalopathy Murine Models

    International Journal of Molecular Sciences, Vol. 26, Núm. 24

2024

  1. A cohort analysis of familial partial lipodystrophy from two Mediterranean countries

    Diabetes, Obesity and Metabolism, Vol. 26, Núm. 11, pp. 4875-4886

  2. Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes

    International Journal of Molecular Sciences, Vol. 25, Núm. 17

2023

  1. A murine model of BSCL2-associated Celia's encephalopathy

    Neurobiology of Disease, Vol. 187

  2. Clinical Characterisation and Comorbidities of Acquired Generalised Lipodystrophy: A 14-Year Follow-Up Study

    Journal of Clinical Medicine, Vol. 12, Núm. 23

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

    Cells, Vol. 12, Núm. 5

  4. Increased musculature: A warning sign of familial partial lipodystrophy

    Endocrinologia, Diabetes y Nutricion, Vol. 70, Núm. 4, pp. 290-292

  5. Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain

    Frontiers in Endocrinology, Vol. 14

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, Vol. 20, Núm. 2, pp. 73-82

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