Publications by the researcher in collaboration with Antía Fernández Pombo (23)

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. Effect of β-Estradiol on Adipogenesis in a 3T3-L1 Cell Model of Prelamin A Accumulation

    International Journal of Molecular Sciences, Vol. 25, Núm. 2

  3. 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

  2. Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip) Cambridge, UK, 7–8 April 2022

    Annales d'Endocrinologie

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. Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome

    Neurological Sciences

  4. Lipodistrofia Parcial Familiar tipo 2: a propósito de un caso

    Galicia Clínica, Vol. 82, Núm. 1, pp. 33-35

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

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

  6. 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. Hyperpigmented macula: An adverse reaction of treatment with metreleptin

    Anales de Pediatria, Vol. 93, Núm. 4, pp. 270-271

  2. 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

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

    Neuroscience, Vol. 396, pp. 119-137