Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (12)

2024

  1. Casein kinase 1 inhibitor avoids TDP-43 pathology propagation in a patient-derived cellular model of amyotrophic lateral sclerosis

    Neurobiology of Disease, Vol. 192

  2. 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

2022

  1. Senescence plays a role in myotonic dystrophy type 1

    JCI insight, Vol. 7, Núm. 19

2021

  1. Allosteric modulation of GSK‐3β as a new therapeutic approach in limb girdle muscular dystrophy R1 Calpain 3‐related

    International Journal of Molecular Sciences, Vol. 22, Núm. 14

2019

  1. Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations

    International Journal of Molecular Sciences, Vol. 20, Núm. 18

2017

  1. Dominant LGMD2A: Alternative diagnosis or hidden digenism?

    Brain

  2. FRZB and melusin, overexpressed in LGMD2A, regulate integrin β1D isoform replacement altering myoblast fusion and the integrin-signalling pathway

    Expert Reviews in Molecular Medicine, Vol. 19

2015

  1. Costamere proteins and their involvement in myopathic processes

    Expert Reviews in Molecular Medicine, Vol. 17

2012

  1. C3KO mouse expression analysis: Downregulation of the muscular dystrophy Ky protein and alterations in muscle aging

    Neurogenetics, Vol. 13, Núm. 4, pp. 347-357

  2. Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3

    Human Molecular Genetics, Vol. 21, Núm. 14, pp. 3193-3204

2011

  1. Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?

    Muscle and Nerve, Vol. 44, Núm. 5, pp. 710-714