Alfredo
Santalla Hernández
Vall d'Hebron Institut de Recerca
Barcelona, EspañaPublikationen in Zusammenarbeit mit Forschern von Vall d'Hebron Institut de Recerca (8)
2016
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Exercise and preexercise nutrition as treatment for McArdle disease
Medicine and Science in Sports and Exercise, Vol. 48, Núm. 4, pp. 673-679
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Genes and exercise intolerance: Insights from McArdle disease
Physiological Genomics, Vol. 48, Núm. 2, pp. 93-100
2015
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McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene
Human Mutation, Vol. 36, Núm. 7, pp. 669-678
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Report on the EUROMAC McArdle Exercise Testing Workshop, Madrid, Spain, 11-12 July 2014
Neuromuscular Disorders, Vol. 25, Núm. 9, pp. 739-745
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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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McArdle Disease: A Unique Study Model in Sports Medicine
Sports Medicine, Vol. 44, Núm. 11, pp. 1531-1544
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McArdle disease does not affect skeletal muscle fibre type profiles in humans
Biology Open, Vol. 3, Núm. 12, pp. 1224-1227
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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