Publicacións (42) Publicacións nas que participase algún/ha investigador/a

2019

  1. A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy

    Seizure, Vol. 71, pp. 161-165

  2. About the correct definition of acanthocytes for their use as markers of glomerular haematuria

    Revista del laboratorio clínico, Vol. 12, Núm. 3, pp. 155-157

  3. Association of high titers of anti-carbamylated protein antibodies with decreased bone mineral density in early arthritis patients

    PLoS ONE, Vol. 13, Núm. 8

  4. Bethlem myopathy: a series of 16 patients and description of seven new associated mutations

    Journal of Neurology, Vol. 266, Núm. 4, pp. 934-941

  5. Blood eosinophils could be useful as a biomarker in chronic obstructive pulmonary disease exacerbations

    International Journal of Clinical Practice, Vol. 73, Núm. 12

  6. COPPADIS-2015 (COhort of Patients with PArkinson's DIsease in Spain, 2015): an ongoing global Parkinson's disease project about disease progression with more than 1000 subjects included. Results from the baseline evaluation

    European Journal of Neurology, Vol. 26, Núm. 11, pp. 1399-1407

  7. Cistinuria: la importancia del sedimento

    Revista del laboratorio clínico, Vol. 12, Núm. 4, pp. 161-164

  8. Criterios de extracción de muestra en situaciones especiales del cribado neonatal. Revisión

    Revista del laboratorio clínico, Vol. 12, Núm. 4, pp. 189-195

  9. Diagnóstico bioquímico y genético en las enfermedades metabólicas hereditarias

    Manual de pediatría (Ergon), pp. 669-672

  10. Differential Association of Mitochondrial DNA Haplogroups J and H With the Methylation Status of Articular Cartilage: Potential Role in Apoptosis and Metabolic and Developmental Processes

    Arthritis and Rheumatology, Vol. 71, Núm. 7, pp. 1191-1200

  11. Diverse large HIV-1 non-subtype B clusters are spreading among men who have sex with men in Spain

    Frontiers in Microbiology, Vol. 10, Núm. APR

  12. El autoritarismo científico en Medicina

    SISO SAÚDE: Boletín de la Asociación Galega de Saúde Mental, Núm. 64, pp. 169-178

  13. Empagliflozin reduces the levels of CD36 and cardiotoxic lipids while improving autophagy in the hearts of Zucker diabetic fatty rats

    Biochemical Pharmacology, Vol. 170

  14. Estudios genéticos en diagnóstico prenatal. Recomendación (2018)

    Revista del laboratorio clínico, Vol. 12, Núm. 1, pp. 27-37

  15. Fas activation alters tight junction proteins in acute lung injury

    Thorax, Vol. 74, Núm. 1, pp. 69-82

  16. Free-access copy-number variant detection tools for targeted next-generation sequencing data

    Mutation Research - Reviews in Mutation Research, Vol. 779, pp. 114-125

  17. Gamma-aminobutyric acid (GABA) promotes recovery from spinal cord injury in lampreys: role of GABA receptors and perspective on the translation to mammals

    Neural Regeneration Research, Vol. 14, Núm. 10, pp. 1695-1696

  18. High ultrasensitive serum C-reactive protein may be related to freezing of gait in Parkinson’s disease patients

    Journal of Neural Transmission, Vol. 126, Núm. 12, pp. 1599-1608

  19. Inconsciente 3.0: lo que hacemos con las tecnologías y lo que las tecnologías hacen con nosotros

    Independently published

  20. Iterative Variable Gene Discovery from Whole Genome Sequencing with a Bootstrapped Multiresolution Algorithm

    Computational and Mathematical Methods in Medicine, Vol. 2019