Publications en collaboration avec des chercheurs de Hospital Vall d'Hebron (33)

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

  3. Global, regional, and national burden of stroke and its risk factors, 1990–2021: a systematic analysis for the Global Burden of Disease Study 2021

    The Lancet Neurology, Vol. 23, Núm. 10, pp. 973-1003

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. Impact of Comorbidity on Physical Function in Patients With Ankylosing Spondylitis and Psoriatic Arthritis Attending Rheumatology Clinics: Results From a Cross-Sectional Study

    Arthritis Care and Research, Vol. 72, Núm. 6, pp. 822-828

  3. Late Breaking Abstract - Early ICU physiotherapy on SARS-CoV-2 patients: A Spanish experience case series

    Acute critical care

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

    Genes, Vol. 11, Núm. 11, pp. 1-8

  5. Spanish Experience of Pulmonary Rehabilitation Efficacy for Patients Affected by the Novel SARS-CoV-2 (COVID-19): A Case Report

    Topics in Geriatric Rehabilitation, Vol. 36, Núm. 4, pp. 212-214

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

    Genes, Vol. 11, Núm. 7, pp. 1-9

  7. 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