Publicaciones (298) Publicaciones en las que ha participado algún/a investigador/a

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2025

  1. 3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency and type 2 diabetes mellitus presenting in adulthood

    Medicina Clinica

  2. A real-world pharmacovigilance assessment and literature review of lymphoma development in lipodystrophy

    Frontiers in Endocrinology, Vol. 16

  3. Assessing the relationship between short-term blood pressure variability and glycation profile in young and middle-aged nondiabetic hypertensive individuals

    Journal of Hypertension, Vol. 43, Núm. 7, pp. 1148-1157

  4. Cofactors facilitate bona fide prion misfolding in vitro but are not necessary for the infectivity of recombinant murine prions

    PLoS Pathogens, Vol. 21, Núm. 1

  5. Comparing the Extent of Methionine Oxidation in the Prion and Native Conformations of PrP

    ACS Omega, Vol. 10, Núm. 1, pp. 1320-1330

  6. Conservation of strain properties of bank vole-adapted chronic wasting disease in the absence of glycosylation and membrane anchoring

    Neurobiology of Disease, Vol. 210

  7. Current status of the immunogenicity of enzyme replacement therapy in fabry disease

    Orphanet Journal of Rare Diseases , Vol. 20, Núm. 1

  8. Disrupted synaptic gene expression in Fabry disease: Findings from RNA sequencing

    Neurobiology of Disease, Vol. 209

  9. Effect of primary structural variation on cervid prion protein in flexibility, stability, and spontaneous misfolding propensity

    Neurobiology of Disease, Vol. 213

  10. Evaluation of lecanemab immunotherapy for Alzheimer's disease: A systematic review

    Revista Cientifica de la Sociedad Espanola de Enfermeria Neurologica

  11. Is there new hope for rare diseases?

    Medicina Clinica

  12. The organizational dimension in rare and complex diseases care management: an application of RarERN Path© methodology in ataxias, dystonia and phenylketonuria

    BMC Health Services Research, Vol. 25, Núm. 1

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