MolPath-RD
Molecular Pathology of Rare Diseases
Publications (270) Publications in which a researcher has participated
2024
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Aggregation-resistant alpha-synuclein tetramers are reduced in the blood of Parkinson’s patients
EMBO Molecular Medicine, Vol. 16, Núm. 7, pp. 1657-1674
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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
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Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers
Translational Research, Vol. 269, pp. 47-63
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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
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Diagnosis, treatment and management of lipodystrophy: the physician perspective on the patient journey
Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1
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Effect of an intensive tobacco cessation program on the smoker narrative: A content analysis and grounded theory
Tobacco Induced Diseases, Vol. 22
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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
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Lipodystrophy Prevalence, “Lipodystrophy-Like Phenotypes,” and Diagnostic Challenges
Diabetes
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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
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Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip), Pisa, Italy, 28–29 September 2023
Annales d'Endocrinologie
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Special Issue “Diagnosis and Treatment of Rare Diseases”
Journal of Clinical Medicine
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Vascular Calcification: A Passive Process That Requires Active Inhibition
Biology, Vol. 13, Núm. 2
2023
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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
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A murine model of BSCL2-associated Celia's encephalopathy
Neurobiology of Disease, Vol. 187
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A tetracationic porphyrin with dual anti-prion activity
iScience, Vol. 26, Núm. 9
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Assessment of Oxidative Stress Markers in Hypertensive Patients under the Use of Renin-Angiotensin-Aldosterone Blockers
Antioxidants, Vol. 12, Núm. 4
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Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease
Journal of Clinical Medicine, Vol. 12, Núm. 7
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Characterization and Clinical Association of Autoantibodies Against Perilipin 1 in Patients With Acquired Generalized Lipodystrophy
Diabetes, Vol. 72, Núm. 1, pp. 71-84
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Clinical Characterisation and Comorbidities of Acquired Generalised Lipodystrophy: A 14-Year Follow-Up Study
Journal of Clinical Medicine, Vol. 12, Núm. 23
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Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review
Cells, Vol. 12, Núm. 5