FACULTAD DE CIENCIAS DE LA ACTIVIDAD FÍSICA Y EL DEPORTE
Facultad
Hospital Universitari Germans Trias i Pujol
Barcelona, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitari Germans Trias i Pujol (19)
2020
-
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
-
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
-
Hormonal Dependence and Cancer in Systemic Lupus Erythematosus
Arthritis Care and Research, Vol. 72, Núm. 2, pp. 216-224
-
Preliminary findings on ctg expansion determination in different tissues from patients with myotonic dystrophy type 1
Genes, Vol. 11, Núm. 11, pp. 1-8
-
The need for establishing a universal CTG sizing method in myotonic dystrophy type 1
Genes, Vol. 11, Núm. 7, pp. 1-9
-
Three-dimensional imaging in myotonic dystrophy type 1
Neurology: Genetics, Vol. 6, Núm. 4
2018
-
A novel mutation in the valosin-containing-protein gene found in a Spanish family
Journal of the Neurological Sciences
-
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
-
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
-
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
-
Missense mutations have unexpected consequences: The McArdle disease paradigm
Human Mutation, Vol. 39, Núm. 10, pp. 1338-1343
-
Myotilinopathy unmasked by statin treatment: A case report
Muscle and Nerve, Vol. 57, Núm. 6, pp. E138-E140
2017
2016
-
Exercise and preexercise nutrition as treatment for McArdle disease
Medicine and Science in Sports and Exercise, Vol. 48, Núm. 4, pp. 673-679
-
Genes and exercise intolerance: Insights from McArdle disease
Physiological Genomics, Vol. 48, Núm. 2, pp. 93-100
-
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
-
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
1997
-
Suspicion of quinolone active metabolite following discrepancy between predicted and experimental urine bactericidal activities
Antimicrobial Agents and Chemotherapy, Vol. 41, Núm. 5, pp. 927-930
1995
-
Comparison of rufloxacin and norfloxacin effects on faecal flora
Journal of Antimicrobial Chemotherapy, Vol. 35, Núm. 6, pp. 895-901