Publicacións nas que colabora con Antía Fernández Pombo (21)

2024

  1. 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

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

  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

  3. Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation

    Case Reports in Endocrinology, Vol. 2019

2018

  1. Bone mineral density in familial partial lipodystrophy

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