Publicaciones en colaboración con investigadores/as de Hospital Universitario de Donostia (304)

2024

  1. A mammalian-specific Alex3/Gαq protein complex regulates mitochondrial trafficking, dendritic complexity, and neuronal survival

    Science Signaling, Vol. 17, Núm. 822

  2. Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features

    Brain, Vol. 147, Núm. 8, pp. 2867-2883

  3. CNS involvement in myotonic dystrophy type 1: does sex play a role?

    Frontiers in Neurology , Vol. 15

  4. CT angiography reconstruction of a rotational vertebral artery syndrome

    Archives of Disease in Childhood

  5. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    Neuromuscular Disorders, Vol. 34, pp. 1-8

  6. Development of an in vitro platform for the analysis of contractile and calcium dynamics in single human myotubes

    Lab on a Chip, Vol. 24, Núm. 20, pp. 4741-4754

  7. Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis

    Acta Neuropathologica, Vol. 148, Núm. 1

  8. Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1-Related Syndrome

    Movement Disorders

  9. Haplotype-Aware Detection of SERPINA1 Variants by Nanopore Sequencing

    Journal of Molecular Diagnostics, Vol. 26, Núm. 11, pp. 971-987

  10. Immortalized human myotonic dystrophy type 1 muscle cell lines to address patient heterogeneity

    iScience, Vol. 27, Núm. 6

  11. Oocyte electroporation prior to in vitro fertilization is an efficient method to generate single, double, and multiple knockout porcine embryos of interest in biomedicine and animal production

    Theriogenology, Vol. 218, pp. 111-118

  12. Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

    Brain : a journal of neurology, Vol. 147, Núm. 5, pp. 1887-1898

  13. Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum

    Movement Disorders, Vol. 39, Núm. 1, pp. 209-214

  14. The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3-related muscular dystrophy

    Muscle and Nerve, Vol. 69, Núm. 4, pp. 472-476

  15. Understanding the olfactory role in post-COVID cognitive and neuropsychiatric manifestations

    Frontiers in Psychology, Vol. 15

2023

  1. Admixture mapping of severe asthma exacerbations in Hispanic/Latino children and youth

    Thorax, Vol. 78, Núm. 3, pp. 233-241

  2. Alpha-1 antitrypsin deficiency and Pi*S and Pi*Z SERPINA1 variants are associated with asthma exacerbations

    Pulmonology

  3. Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions

    Orphanet Journal of Rare Diseases, Vol. 18, Núm. 1

  4. Changes in Liver Lipidomic Profile in G2019S-LRRK2 Mouse Model of Parkinson’s Disease

    Cells, Vol. 12, Núm. 5

  5. Classifying asthma control using salivary and fecal bacterial microbiome in children with moderate-to-severe asthma

    Pediatric Allergy and Immunology, Vol. 34, Núm. 2