FACULTAD DE CIENCIAS DE LA ACTIVIDAD FÍSICA Y EL DEPORTE
Facultad
![Foto de FACULTAD DE CIENCIAS DE LA ACTIVIDAD FÍSICA Y EL DEPORTE](/img/uploaded/E5887757AB399CB9793E3387B9725792.jpg)
![Foto de Centro de Investigación Biomédica en Red sobre Enfermedades Raras](/img/noimage_org.png)
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (34)
2024
-
Acute ketone supplementation in the absence of muscle glycogen utilization: Insights from McArdle disease
Clinical Nutrition, Vol. 43, Núm. 3, pp. 692-700
2023
-
Combined exercise intervention in a mouse model of high-risk neuroblastoma: effects on physical, immune, tumor and clinical outcomes
Exercise immunology review, Vol. 29, pp. 86-110
-
Muscle glycogen unavailability and fat oxidation rate during exercise: Insights from McArdle disease
Journal of Physiology, Vol. 601, Núm. 3, pp. 551-566
-
Pathophysiology of Cerebellar Degeneration in Mitochondrial Disorders: Insights from the Harlequin Mouse
International Journal of Molecular Sciences, Vol. 24, Núm. 13
2022
-
Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)
Genes, Vol. 13, Núm. 10
-
Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?
Molecular metabolism, Vol. 66, pp. 101648
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
-
Absence of p.R50X Pygm read-through in McArdle disease cellular models
DMM Disease Models and Mechanisms, Vol. 13, Núm. 1
-
Novel ndufa13 mutations associated with oxphos deficiency and leigh syndrome: A second family report
Genes, Vol. 11, Núm. 8, pp. 1-13
-
Preclinical research in glycogen storage diseases: A comprehensive review of current animal models
International Journal of Molecular Sciences, Vol. 21, Núm. 24, pp. 1-50
2019
-
Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model
Scientific Reports, Vol. 9, Núm. 1
2018
-
Exercise benefits in cardiovascular disease: beyond attenuation of traditional risk factors
Nature Reviews Cardiology, Vol. 15, Núm. 12, pp. 731-743
-
Missense mutations have unexpected consequences: The McArdle disease paradigm
Human Mutation, Vol. 39, Núm. 10, pp. 1338-1343
-
Physical activity levels are low in patients with pulmonary hypertension
Annals of Translational Medicine, Vol. 6, Núm. 11, pp. 205-205
2015
-
Sodium valproate increases the brain isoform of glycogen phosphorylase: Looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro
DMM Disease Models and Mechanisms, Vol. 8, Núm. 5, pp. 467-472
-
The pathogenomics of McArdle disease—genes, enzymes, models, and therapeutic implications
Journal of Inherited Metabolic Disease, Vol. 38, Núm. 2, pp. 221-230
2014
-
PYGM expression analysis in white blood cells: A complementary tool for diagnosing McArdle disease?
Neuromuscular Disorders, Vol. 24, Núm. 12, pp. 1079-1086
-
The rs1333049 polymorphism on locus 9p21.3 and extreme longevity in Spanish and Japanese cohorts
Age, Vol. 36, Núm. 2, pp. 933-943
2013
-
Association of the K153R polymorphism in the myostatin gene and extreme longevity
Age, Vol. 35, Núm. 6, pp. 2445-2454
-
Effects of exercise interventions in graft-versus-host disease models
Cell Transplantation, Vol. 22, Núm. 12, pp. 2409-2420