Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (9)

2024

  1. Genetic and Neurodevelopmental Markers in Schizophrenia-Spectrum Disorders: Analysis of the Combined Role of the CNR1 Gene and Dermatoglyphics

    Biomedicines, Vol. 12, Núm. 10

2023

  1. BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis

    Gastroenterology, Vol. 165, Núm. 1, pp. 162-172.e5

2022

  1. Clinical and immunological aspects of microRNAs in neonatal sepsis

    Biomedicine and Pharmacotherapy, Vol. 145

  2. Hereditary spastic paraplegia type 4: Description of a family with a new pathogenic SPAST gene variant, c.1156A > C (p.Asn386His)

    Neurology Perspectives, Vol. 2, Núm. 1, pp. 53-55

  3. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

2019

  1. AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)

    Annals of Neurology, Vol. 85, Núm. 5, pp. 740-751

2015

  1. Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience

    Endocrine, Vol. 49, Núm. 1, pp. 139-147

2014

  1. High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families

    Clinical Genetics, Vol. 85, Núm. 6, pp. 583-588

2013

  1. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

    Neurogenetics, Vol. 14, Núm. 1, pp. 11-22