Publicacións (275) Publicacións nas que participase algún/ha investigador/a

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. Aggregation-resistant alpha-synuclein tetramers are reduced in the blood of Parkinson’s patients

    EMBO Molecular Medicine, Vol. 16, Núm. 7, pp. 1657-1674

  3. Assessing the relationship between lipoprotein(a) levels and blood pressure among hypertensive patients beyond conventional measures. An observational study

    Scientific Reports, Vol. 14, Núm. 1

  4. Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers

    Translational Research, Vol. 269, pp. 47-63

  5. Clinical Characteristics of Patients With Acquired Partial Lipodystrophy: A Multicenter Retrospective Study

    The Journal of clinical endocrinology and metabolism, Vol. 109, Núm. 3, pp. e932-e944

  6. Copper Overload Increased Rat Striatal Levels of Both Dopamine and Its Main Metabolite Homovanillic Acid in Extracellular Fluid

    International Journal of Molecular Sciences, Vol. 25, Núm. 15

  7. Diagnosis, treatment and management of lipodystrophy: the physician perspective on the patient journey

    Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1

  8. Effect of an intensive tobacco cessation program on the smoker narrative: A content analysis and grounded theory

    Tobacco Induced Diseases, Vol. 22

  9. 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

  10. Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes

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

  11. Lipodystrophy Prevalence, “Lipodystrophy-Like Phenotypes,” and Diagnostic Challenges

    Diabetes

  12. Nutrient Status and Intakes of Adults with Phenylketonuria

    Nutrients , Vol. 16, Núm. 16

  13. Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease

    International journal of molecular sciences, Vol. 25, Núm. 8

  14. Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip), Pisa, Italy, 28–29 September 2023

    Annales d'Endocrinologie

  15. Special Issue “Diagnosis and Treatment of Rare Diseases”

    Journal of Clinical Medicine

  16. True-resistant hypertension and serum fibrinogen; much more than a marriage of convenience?

    Journal of Human Hypertension

  17. Vascular Calcification: A Passive Process That Requires Active Inhibition

    Biology, Vol. 13, Núm. 2

2023

  1. A Mass Spectrometry-Based Method of Quantifying the Contribution of the Lysine Polymorphism at Position 171 in Sheep PrP

    Journal of the American Society for Mass Spectrometry, Vol. 34, Núm. 2, pp. 245-254

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

    Neurobiology of Disease, Vol. 187

  3. A tetracationic porphyrin with dual anti-prion activity

    iScience, Vol. 26, Núm. 9