Publicacions en què col·labora amb Andone Sistiaga Berrondo (18)

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

2023

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

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

  2. 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. 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. 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

2014

  1. Distrofia facioescapulohumeral: afectación cognitiva, calidad de vida e impacto de factores psicosociales

    Enfermedades neuromusculares: bases para la intervención (Servicio de Publicaciones = Argitalpen Zerbitzua), pp. 131-140

2013

  1. Distinctive age-related temporal cortical thinning in asymptomatic granulin gene mutation carriers

    Neurobiology of Aging, Vol. 34, Núm. 5, pp. 1462-1468

2011

  1. Mis-splicing of Tau exon 10 in myotonic dystrophy type 1 is reproduced by overexpression of CELF2 but not by MBNL1 silencing

    Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1812, Núm. 7, pp. 732-742

  2. Neurocognitive disorder detection based on feature vectors extracted from VBM analysis of structural MRI

    Computers in Biology and Medicine, Vol. 41, Núm. 8, pp. 600-610

2010

  1. Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1

    Psychological Medicine, Vol. 40, Núm. 3, pp. 487-495

2009

  1. Cognitive function in facioscapulohumeral dystrophy correlates with the molecular defect

    Genes, Brain and Behavior, Vol. 8, Núm. 1, pp. 53-59

2007

  1. Genes related to iron metabolism and susceptibility to Alzheimer's disease in Basque population

    Neurobiology of Aging, Vol. 28, Núm. 12, pp. 1941-1943