Área Sanitaria de Ourense, Verín e O Barco de Valdeorras
Área sanitaria
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (10)
2024
2023
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BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis
Gastroenterology, Vol. 165, Núm. 1, pp. 162-172.e5
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Neurological adverse events related to immune-checkpoint inhibitors in Spain: a retrospective cohort study
The Lancet Neurology, Vol. 22, Núm. 12, pp. 1150-1159
2022
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Clinical and immunological aspects of microRNAs in neonatal sepsis
Biomedicine and Pharmacotherapy, Vol. 145
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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
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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
2019
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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
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Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience
Endocrine, Vol. 49, Núm. 1, pp. 139-147
2014
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High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families
Clinical Genetics, Vol. 85, Núm. 6, pp. 583-588
2013
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Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
Neurogenetics, Vol. 14, Núm. 1, pp. 11-22