Publicaciones en colaboración con investigadores/as de Hospital Universitari Germans Trias i Pujol (14)

2020

  1. A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype

    Human Mutation, Vol. 41, Núm. 2, pp. 420-431

  2. Preliminary findings on ctg expansion determination in different tissues from patients with myotonic dystrophy type 1

    Genes, Vol. 11, Núm. 11, pp. 1-8

  3. The need for establishing a universal CTG sizing method in myotonic dystrophy type 1

    Genes, Vol. 11, Núm. 7, pp. 1-9

  4. Three-dimensional imaging in myotonic dystrophy type 1

    Neurology: Genetics, Vol. 6, Núm. 4

2018

  1. A novel mutation in the valosin-containing-protein gene found in a Spanish family

    Journal of the Neurological Sciences

  2. A panel of multibiomarkers of inflammation, fibrosis, and catabolism is normal in healthy centenarians but has high values in young patients with myocardial infarction

    Maturitas, Vol. 116, pp. 54-58

  3. Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality—role of statins (Journal of Inherited Metabolic Disease, (2018), 41, 6, (1027-1035), 10.1007/s10545-018-0203-2)

    Journal of Inherited Metabolic Disease

  4. Manifesting heterozygotes in McArdle disease: a myth or a reality—role of statins

    Journal of Inherited Metabolic Disease, Vol. 41, Núm. 6, pp. 1-9

  5. Missense mutations have unexpected consequences: The McArdle disease paradigm

    Human Mutation, Vol. 39, Núm. 10, pp. 1338-1343

  6. Myotilinopathy unmasked by statin treatment: A case report

    Muscle and Nerve, Vol. 57, Núm. 6, pp. E138-E140

2017

  1. Genotypic and phenotypic features of all Spanish patients with McArdle disease: A 2016 update

    BMC Genomics, Vol. 18

2016

  1. Exercise and preexercise nutrition as treatment for McArdle disease

    Medicine and Science in Sports and Exercise, Vol. 48, Núm. 4, pp. 673-679

  2. Genes and exercise intolerance: Insights from McArdle disease

    Physiological Genomics, Vol. 48, Núm. 2, pp. 93-100

  3. Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease

    Genetics in Medicine, Vol. 18, Núm. 11, pp. 1128-1135