Ciencias de la Salud
Campo de conocimiento
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicaciones en colaboración con investigadoras/es de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (91)
2024
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Association between exposure to air pollution and blood lipids in the general population of Spain
European Journal of Clinical Investigation, Vol. 54, Núm. 2
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Clinical practice guideline on the management of vestibular schwannoma
Acta Otorrinolaringologica Espanola, Vol. 75, Núm. 2, pp. 108-128
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Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis (Journal of Neurology, (2023), 270, 12, (5849-5865), 10.1007/s00415-023-11862-4)
Journal of Neurology
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Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
Neuromuscular Disorders, Vol. 34, pp. 1-8
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Dilated Cardiomyopathy With Concomitant Salt-Losing Renal Tubulopathy Caused by Heterozygous RRAGD Gene Variant
Circulation: Genomic and Precision Medicine, Vol. 17, Núm. 2, pp. E004336
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Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1-Related Syndrome
Movement Disorders
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NRN1 epistasis with BDNF and CACNA1C: mediation effects on symptom severity through neuroanatomical changes in schizophrenia
Brain Structure and Function, Vol. 229, Núm. 5, pp. 1299-1315
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PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort
International Journal of Molecular Sciences, Vol. 25, Núm. 5
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Risk for progression to type 1 diabetes in first-degree relatives under 50 years of age
Frontiers in Endocrinology, Vol. 15
2023
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A second update on mapping the human genetic architecture of COVID-19
Nature
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ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease
Frontiers in Genetics, Vol. 14
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An SPM-Enriched Marine Oil Supplement Shifted Microglia Polarization toward M2, Ameliorating Retinal Degeneration in rd10 Mice
Antioxidants, Vol. 12, Núm. 1
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Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis
Journal of Neurology, Vol. 270, Núm. 12, pp. 5849-5865
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Autoimmune Diabetes From Childhood to Adulthood: The Role of Pancreatic Autoantibodies and HLA-DRB1 Genotype
The Journal of clinical endocrinology and metabolism, Vol. 108, Núm. 11, pp. e1341-e1346
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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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ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
Genome medicine, Vol. 15, Núm. 1, pp. 68
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Executive summary of the SEEN (Sociedad Española de Endocrinología y Nutrición [Spanish Society of Endocrinology and Nutrition])-SEGO (Sociedad Española de Ginecología y Obstetricia [Spanish Society of Gynaecology and Obstetrics]) consensus document on the management of thyroid dysfunction during pregnancy
Endocrinologia, Diabetes y Nutricion, Vol. 70, pp. 38-50
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Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
Journal of medical genetics, Vol. 60, Núm. 10, pp. 965-973
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Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia
European Journal of Neurology, Vol. 30, Núm. 12, pp. 3828-3833
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Gut microbial dysbiosis in patients with Cushing’s disease in long-term remission. Relationship with cardiometabolic risk
Frontiers in Endocrinology, Vol. 14