ALEJANDRO
LUCIA MULAS
CATEDRÁTICO
Hospital Vall d'Hebron
Barcelona, EspañaPublications en collaboration avec des chercheurs de Hospital Vall d'Hebron (29)
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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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
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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Preliminary findings on ctg expansion determination in different tissues from patients with myotonic dystrophy type 1
Genes, Vol. 11, Núm. 11, pp. 1-8
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The need for establishing a universal CTG sizing method in myotonic dystrophy type 1
Genes, Vol. 11, Núm. 7, pp. 1-9
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Three-dimensional imaging in myotonic dystrophy type 1
Neurology: Genetics, Vol. 6, Núm. 4
2018
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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
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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
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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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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
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Minimal symptoms in McArdle disease: A real PYGM genotype effect?
Muscle and Nerve
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Next-generation sequencing to estimate the prevalence of a great unknown: McArdle disease
Genetics in Medicine
2014
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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
2012
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Are mitochondrial haplogroups associated with extreme longevity? A study on a Spanish cohort
Age, Vol. 34, Núm. 1, pp. 227-233
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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
2011
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Are mitochondrial haplogroups associated with elite athletic status? A study on a Spanish cohort
Mitochondrion, Vol. 11, Núm. 6, pp. 905-908
2010
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Excessive skeletal muscle recruitment during strenuous exercise in McArdle patients
European Journal of Applied Physiology, Vol. 110, Núm. 5, pp. 1047-1055
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Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation
PLoS ONE, Vol. 5, Núm. 10
2008
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AMPD1 genotypes and exercise capacity in McArdle patients
International Journal of Sports Medicine, Vol. 29, Núm. 4, pp. 331-335