Instituto de Salud Carlos III -ko ikertzaileekin lankidetzan egindako argitalpenak (58)

2024

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

    Science Signaling, Vol. 17, Núm. 822

2023

  1. Erratum: Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores (Nature communications (2021) 12 1 (3417))

    Nature communications

  2. 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

  3. Loss of the matrix metalloproteinase-10 causes premature features of aging in satellite cells

    Frontiers in Cell and Developmental Biology, Vol. 11

  4. Opsoclonus-myoclonus syndrome: clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort

    Neurologia, Vol. 38, Núm. 2, pp. 93-105

  5. Shedding light on motor premanifest myotonic dystrophy type 1: A molecular, muscular and central nervous system follow-up study

    European Journal of Neurology, Vol. 30, Núm. 1, pp. 215-223

  6. Visuoconstructional impairment in DM1: exploring underlying cognitive processes through the Rey complex figure

    Journal of Clinical and Experimental Neuropsychology, Vol. 45, Núm. 6, pp. 597-605

2022

  1. Delay of EGF-Stimulated EGFR Degradation in Myotonic Dystrophy Type 1 (DM1)

    Cells, Vol. 11, Núm. 19

  2. Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

    Neurology, Vol. 98, Núm. 9, pp. E912-E923

  3. Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome

    Annals of Clinical and Translational Neurology, Vol. 9, Núm. 2, pp. 122-131

  4. Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers

    Acta Neuropathologica, Vol. 144, Núm. 5, pp. 821-842

  5. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 93, Núm. 10, pp. 1099-1111

  6. New insights into the genetic etiology of Alzheimer's disease and related dementias

    Nature genetics, Vol. 54, Núm. 4, pp. 412-436

  7. Pathogenic LRRK2 regulates centrosome cohesion via Rab10/RILPL1-mediated CDK5RAP2 displacement

    iScience, Vol. 25, Núm. 6

  8. Senescence plays a role in myotonic dystrophy type 1

    JCI insight, Vol. 7, Núm. 19

  9. Targeting Myotonic Dystrophy Type 1 with Metformin

    International Journal of Molecular Sciences, Vol. 23, Núm. 5

  10. The parkinsonian LRRK2 R1441G mutation shows macroautophagy-mitophagy dysregulation concomitant with endoplasmic reticulum stress

    Cell Biology and Toxicology, Vol. 38, Núm. 5, pp. 889-911

  11. White matter integrity changes and neurocognitive functioning in adult-late onset DM1: a follow-up DTI study

    Scientific reports, Vol. 12, Núm. 1, pp. 3988

2021

  1. Clinical characteristics and outcomes of thymoma-associated myasthenia gravis

    European Journal of Neurology, Vol. 28, Núm. 6, pp. 2083-2091

  2. Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1