Publicaciones en colaboración con investigadores/as de Universidad del País Vasco/Euskal Herriko Unibertsitatea (17)

2024

  1. Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features

    Brain, Vol. 147, Núm. 8, pp. 2867-2883

  2. Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis

    Acta Neuropathologica, Vol. 148, Núm. 1

2022

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

    Cells, Vol. 11, Núm. 19

  2. Senescence plays a role in myotonic dystrophy type 1

    JCI insight, Vol. 7, Núm. 19

2020

  1. A comprehensive serum lipidome profiling of amyotrophic lateral sclerosis

    Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Vol. 21, Núm. 3-4, pp. 252-262

  2. Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease

    Neurologia, Vol. 35, Núm. 3, pp. 185-206

  3. Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study

    Annals of Clinical and Translational Neurology, Vol. 7, Núm. 1, pp. 126-131

  4. Myotonic Dystrophy type 1 cells display impaired metabolism and mitochondrial dysfunction that are reversed by metformin

    Aging, Vol. 12, Núm. 7, pp. 6260-6275

  5. Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study

    European Journal of Neurology, Vol. 27, Núm. 8, pp. 1364-1373

  6. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

    Genetics in Medicine, Vol. 22, Núm. 9, pp. 1478-1488

2019

  1. Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease

    Medicina Clinica, Vol. 153, Núm. 2, pp. 82.e1-82.e17

2017

  1. Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

    Scientific Reports, Vol. 7, Núm. 1

2016

  1. ALS: A bucket of genes, environment, metabolism and unknown ingredients

    Progress in Neurobiology, Vol. 142, pp. 104-129

  2. Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle

    Expert Reviews in Molecular Medicine, Vol. 18

  3. Cancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation

    Neurology, Vol. 87, Núm. 12, pp. 1250-1257

2015

  1. Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain

    Brain

  2. Muscle wasting in myotonic dystrophies: A model of premature aging

    Frontiers in Aging Neuroscience, Vol. 7, Núm. JUN