Publikationen in Zusammenarbeit mit Forschern von Hospital Universitari Germans Trias i Pujol (20)

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. Development of an application for mobile phones (App) based on the collaboration between the Spanish Society of Rheumatology and Spanish Society of Family Medicine for the referral of systemic autoimmune diseases from primary care to rheumatology

    Reumatologia Clinica, Vol. 16, Núm. 5, pp. 373-377

  3. High-dose neoadjuvant chemoradiotherapy versus chemotherapy alone followed by surgery in potentially-resectable stage IIIA-N2 NSCLC. A multi-institutional retrospective study by the Oncologic Group for the Study of Lung Cancer (Spanish Radiation Oncology Society)

    Reports of Practical Oncology and Radiotherapy, Vol. 25, Núm. 3, pp. 447-455

  4. Hormonal Dependence and Cancer in Systemic Lupus Erythematosus

    Arthritis Care and Research, Vol. 72, Núm. 2, pp. 216-224

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

    Genes, Vol. 11, Núm. 11, pp. 1-8

  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

2019

  1. Prognostic factors in neoadjuvant treatment followed by surgery in stage IIIA-N2 non-small cell lung cancer: a multi-institutional study by the Oncologic Group for the Study of Lung Cancer (Spanish Radiation Oncology Society)

    Clinical and Translational Oncology, Vol. 21, Núm. 6, pp. 735-744

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

  7. Neoadjuvant treatment followed by surgery versus definitive chemoradiation in stage IIIA-N2 non-small-cell lung cancer: A multi-institutional study by the oncologic group for the study of lung cancer (Spanish Radiation Oncology Society)

    Lung Cancer, Vol. 118, pp. 119-127

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

2009

  1. Non-typhi Salmonella infection in patients with rheumatic diseases on TNF-alpha antagonist therapy

    Clinical and Experimental Rheumatology, Vol. 27, Núm. 6, pp. 920-925