ALEJANDRO
LUCIA MULAS
CATEDRÁTICO
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublikationen in Zusammenarbeit mit Forschern von Centro de Investigación Biomédica en Red sobre Enfermedades Raras (35)
2024
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Acute ketone supplementation in the absence of muscle glycogen utilization: Insights from McArdle disease
Clinical Nutrition, Vol. 43, Núm. 3, pp. 692-700
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Exercise Intolerance in McArdle Disease: A Role for Cardiac Impairment? A Preliminary Study in Humans and Mice
Medicine and Science in Sports and Exercise
2023
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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
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Muscle glycogen unavailability and fat oxidation rate during exercise: Insights from McArdle disease
Journal of Physiology, Vol. 601, Núm. 3, pp. 551-566
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Pathophysiology of Cerebellar Degeneration in Mitochondrial Disorders: Insights from the Harlequin Mouse
International Journal of Molecular Sciences, Vol. 24, Núm. 13
2022
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Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)
Genes, Vol. 13, Núm. 10
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Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?
Molecular metabolism, Vol. 66, pp. 101648
2020
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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
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Absence of p.R50X Pygm read-through in McArdle disease cellular models
DMM Disease Models and Mechanisms, Vol. 13, Núm. 1
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Novel ndufa13 mutations associated with oxphos deficiency and leigh syndrome: A second family report
Genes, Vol. 11, Núm. 8, pp. 1-13
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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
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Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model
Scientific Reports, Vol. 9, Núm. 1
2018
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Exercise benefits in cardiovascular disease: beyond attenuation of traditional risk factors
Nature Reviews Cardiology, Vol. 15, Núm. 12, pp. 731-743
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Missense mutations have unexpected consequences: The McArdle disease paradigm
Human Mutation, Vol. 39, Núm. 10, pp. 1338-1343
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Physical activity levels are low in patients with pulmonary hypertension
Annals of Translational Medicine, Vol. 6, Núm. 11, pp. 205-205
2015
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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
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The pathogenomics of McArdle disease—genes, enzymes, models, and therapeutic implications
Journal of Inherited Metabolic Disease, Vol. 38, Núm. 2, pp. 221-230
2014
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PYGM expression analysis in white blood cells: A complementary tool for diagnosing McArdle disease?
Neuromuscular Disorders, Vol. 24, Núm. 12, pp. 1079-1086
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The rs1333049 polymorphism on locus 9p21.3 and extreme longevity in Spanish and Japanese cohorts
Age, Vol. 36, Núm. 2, pp. 933-943
2013
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Association of the K153R polymorphism in the myostatin gene and extreme longevity
Age, Vol. 35, Núm. 6, pp. 2445-2454