Publicacións en colaboración con investigadores/as de University of Genoa (20)

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  2. EANM position paper: theranostics in brain tumours—the present and the future

    European Journal of Nuclear Medicine and Molecular Imaging

  3. FDA approval of lecanemab: the real start of widespread amyloid PET use? — the EANM Neuroimaging Committee perspective

    European Journal of Nuclear Medicine and Molecular Imaging

2020

  1. A consensus on the diagnosis and treatment of acromegaly comorbidities: An update

    Journal of Clinical Endocrinology and Metabolism, Vol. 105, Núm. 4, pp. E937-E946

2019

  1. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

    Nature Communications, Vol. 10, Núm. 1

  2. Lung Cancer Risk in Never-Smokers of European Descent is Associated With Genetic Variation in the 5p15.33 TERT-CLPTM1Ll Region

    Journal of Thoracic Oncology, Vol. 14, Núm. 8, pp. 1360-1369

  3. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 2, pp. 333-352

2018

  1. European Surveillance System on Contact Allergies (ESSCA): polysensitization, 2009–2014

    Contact Dermatitis, Vol. 78, Núm. 6, pp. 373-385

2017

  1. A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis

    American Journal of Human Genetics, Vol. 100, Núm. 1, pp. 64-74

  2. Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

    Journal of Inherited Metabolic Disease, Vol. 40, Núm. 1, pp. 21-48

2015

  1. Endotoxin-induced lung alveolar cell injury causes brain cell damage

    Experimental Biology and Medicine, Vol. 240, Núm. 1, pp. 135-142

  2. In silico design of novel 2H-chromen-2-one derivatives as potent and selective MAO-B inhibitors

    European Journal of Medicinal Chemistry, Vol. 89, pp. 98-105

  3. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

    Nature Genetics, Vol. 47, Núm. 6, pp. 579-581

  4. Outcomes in patients with Cushing's disease undergoing transsphenoidal surgery: Systematic review assessing criteria used to define remission and recurrence

    European Journal of Endocrinology, Vol. 172, Núm. 6, pp. R227-R239

2014

  1. Managing Cushing's disease: The state of the art

    Endocrine, Vol. 47, Núm. 1, pp. 9-20

  2. The molecular characterization of a depurinated trial DNA sample can be a model to understand the reliability of the results in forensic genetics

    Electrophoresis, Vol. 35, Núm. 21-22, pp. 3134-3144

2013

  1. Fine molecular tuning at position 4 of 2H-chromen-2-one derivatives in the search of potent and selective monoamine oxidase B inhibitors

    European Journal of Medicinal Chemistry, Vol. 70, pp. 723-739

  2. Long-term follow-up and outcome of phenylketonuria patients on sapropterin: A retrospective study

    Pediatrics, Vol. 131, Núm. 6

2012

  1. EAACI: A European Declaration on Immunotherapy. Designing the future of allergen specific immunotherapy

    Clinical and Translational Allergy, Vol. 2, Núm. 1

2007

  1. Critical assessment of the current guidelines for the management and treatment of morbidly obese patients

    Journal of Endocrinological Investigation, Vol. 30, Núm. 10, pp. 844-852