Publications by the researcher in collaboration with MIKEL GARCÍA PUGA (6)

2024

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

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

2022

  1. Senescence plays a role in myotonic dystrophy type 1

    JCI insight, Vol. 7, Núm. 19

2020

  1. 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

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

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

2016

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

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

2015

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

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