Publications in collaboration with researchers from Universidad del País Vasco/Euskal Herriko Unibertsitatea (16)

2024

  1. Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia

    Aging Cell

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

    Frontiers in Neurology , Vol. 15

  3. Patient-Reported Outcome Measures in Neuromuscular Diseases: A Scoping Review

    Journal of neuromuscular diseases, Vol. 11, Núm. 3, pp. 567-577

2023

  1. 267th ENMC International workshop: psychological interventions for improving quality of life in slowly progressive neuromuscular disorders

    Neuromuscular Disorders

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

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

  3. 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

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

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

  2. 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. A Validated WISC-V Short-Form to Estimate Intellectual Functioning in Very Preterm Children at Early School Age

    Frontiers in Psychology, Vol. 12

  2. Small for Gestational Age Moderate to Late Preterm Children: A Neuropsychological Follow-up

    Developmental Neuropsychology, Vol. 46, Núm. 4, pp. 277-287

  3. Transcriptional signatures of synaptic vesicle genes define myotonic dystrophy type I neurodegeneration

    Neuropathology and Applied Neurobiology, Vol. 47, Núm. 7, pp. 1092-1108

2020

  1. Age-related cognitive decline in myotonic dystrophy type 1: An 11-year longitudinal follow-up study

    Journal of Neuropsychology, Vol. 14, Núm. 1, pp. 121-134

  2. Neurodegeneration trajectory in pediatric and adult/late DM1: A follow-up MRI study across a decade

    Annals of Clinical and Translational Neurology, Vol. 7, Núm. 10, pp. 1802-1815

2019

  1. Regional brain atrophy in gray and white matter is associated with cognitive impairment in Myotonic Dystrophy type 1

    NeuroImage: Clinical, Vol. 24

2018

  1. Social cognition in myotonic dystrophy type 1: Specific or secondary impairment?

    PLoS ONE, Vol. 13, Núm. 9