Publikationen in Zusammenarbeit mit Forschern von Instituto de Salud Carlos III (51)

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. 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

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. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

    Nature communications, Vol. 12, Núm. 1, pp. 3417

  3. Long runs of homozygosity are associated with Alzheimer’s disease

    Translational Psychiatry, Vol. 11, Núm. 1

  4. Preclinical characterization of antagomiR-218 as a potential treatment for myotonic dystrophy

    Molecular Therapy - Nucleic Acids, Vol. 26, pp. 174-191