Publikationen in Zusammenarbeit mit Forschern von Hospital Vall d'Hebron (29)

2024

  1. Acute ketone supplementation in the absence of muscle glycogen utilization: Insights from McArdle disease

    Clinical Nutrition, Vol. 43, Núm. 3, pp. 692-700

  2. Dose–response effect of pre-exercise carbohydrates under muscle glycogen unavailability: Insights from McArdle disease

    Journal of Sport and Health Science, Vol. 13, Núm. 3, pp. 398-408

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. 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

  2. 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

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

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

  4. Muscle molecular adaptations to endurance exercise training are conditioned by glycogen availability: a proteomics-based analysis in the McArdle mouse model

    Journal of Physiology, Vol. 596, Núm. 6, pp. 1035-1061

2015

  1. Minimal symptoms in McArdle disease: A real PYGM genotype effect?

    Muscle and Nerve

  2. Next-generation sequencing to estimate the prevalence of a great unknown: McArdle disease

    Genetics in Medicine

2014

  1. The rs1333049 polymorphism on locus 9p21.3 and extreme longevity in Spanish and Japanese cohorts

    Age, Vol. 36, Núm. 2, pp. 933-943

2013

  1. Association of the K153R polymorphism in the myostatin gene and extreme longevity

    Age, Vol. 35, Núm. 6, pp. 2445-2454

2012

  1. Are mitochondrial haplogroups associated with extreme longevity? A study on a Spanish cohort

    Age, Vol. 34, Núm. 1, pp. 227-233

  2. Genotypic and phenotypic features of McArdle disease: Insights from the Spanish national registry

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 83, Núm. 3, pp. 322-328

2011

  1. Are mitochondrial haplogroups associated with elite athletic status? A study on a Spanish cohort

    Mitochondrion, Vol. 11, Núm. 6, pp. 905-908

2010

  1. Excessive skeletal muscle recruitment during strenuous exercise in McArdle patients

    European Journal of Applied Physiology, Vol. 110, Núm. 5, pp. 1047-1055

  2. Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation

    PLoS ONE, Vol. 5, Núm. 10

2008

  1. AMPD1 genotypes and exercise capacity in McArdle patients

    International Journal of Sports Medicine, Vol. 29, Núm. 4, pp. 331-335