Publicaciones en colaboración con investigadores/as de Hospital Universitario de Donostia (30)

2024

  1. 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

2020

  1. Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels

    Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1

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

2014

  1. Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A

    Muscle and Nerve, Vol. 50, Núm. 3, pp. 448-453

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

  2. Eosinophilic infiltration related to CAPN3 mutations: A pathophysiological component of primary calpainopathy?

    Clinical Genetics

  3. Limb-girdle muscular dystrophy 2A

    , pp. 97-110

2008

  1. Characterization of novel CAPN3 isoforms in white blood cells: An alternative approach for limb-girdle muscular dystrophy 2A diagnosis

    Neurogenetics, Vol. 9, Núm. 3, pp. 173-182

  2. Gene expression profiling in limb-girdle muscular dystrophy 2A

    PLoS ONE, Vol. 3, Núm. 11

  3. Matrices de ADN: Visión general y aplicaciones específicas

    Medicina Clinica, Vol. 130, Núm. 13, pp. 504-509

  4. Mutations in Progranulin Gene: Clinical, Pathological, and Ribonucleic Acid Expression Findings

    Biological Psychiatry, Vol. 63, Núm. 10, pp. 946-952

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

  2. UCP2 and mitochondrial haplogroups as a multiple sclerosis risk factor

    Multiple Sclerosis, Vol. 13, Núm. 4, pp. 454-458