Publicaciones en colaboración con investigadoras/es de Hospital Universitario de Donostia (238)

2024

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

    Science Signaling, Vol. 17, Núm. 822

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

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

  3. 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

  4. 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

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

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

  6. 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

2023

  1. 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

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

    Cells, Vol. 12, Núm. 5

  3. ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

    Genome medicine, Vol. 15, Núm. 1, pp. 68

  4. Dysautonomia and small fiber neuropathy in post-COVID condition and Chronic Fatigue Syndrome

    Journal of Translational Medicine, Vol. 21, Núm. 1

  5. Epidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study

    Neurologia, Vol. 38, Núm. 6, pp. 379-386

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

    Nature communications

  7. Executive functions and daily functioning in myotonic dystrophy type 1 ecological assessment with virtual reality

    Neuromuscular Disorders, Vol. 33, Núm. 12, pp. 917-922

  8. Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

    Journal of medical genetics, Vol. 60, Núm. 10, pp. 965-973

  9. 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

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

    Frontiers in Cell and Developmental Biology, Vol. 11

  11. Progranulin Deficiency Induces Mitochondrial Dysfunction in Frontotemporal Lobar Degeneration with TDP-43 Inclusions

    Antioxidants, Vol. 12, Núm. 3

  12. 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

  13. Spastic Paraplegia Type 7 (SPG7)

    Essentials of Cerebellum and Cerebellar Disorders: A Primer For Graduate Students, Second Edition (Springer International Publishing), pp. 691-695

2022

  1. A validated WAIS-IV short-form to estimate intellectual functioning in myotonic dystrophy type 1

    Neuromuscular Disorders, Vol. 32, Núm. 9, pp. 749-753