Análises clínicas

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. 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

10. 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

11. El autoritarismo científico en Medicina

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

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

    Biochemical Pharmacology, Vol. 170

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

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

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

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

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

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

16. 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

17. 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

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

    Computational and Mathematical Methods in Medicine, Vol. 2019

19. Letter: double‐dose intensification – a quick way to reverse antibody formation and loss of response in patients treated with adalimumab

    Alimentary Pharmacology & Therapeutics, Vol. 49, Núm. 6, pp. 821-822

20. Molecular characterization of B-cell epitopes for the major fish allergen, parvalbumin, by shotgun proteomics, protein-based bioinformatics and IgE-reactive approaches

    Journal of Proteomics, Vol. 200, pp. 123-133