Joaquin Arenas
Hospital Universitario 12 de Octubre Centro de Investigación Biomédica
299 papers found
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A milder phenotype of megaconial congenital muscular dystrophy due to a novelCHKBmutation
UploadMyopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene
UploadXanthine oxidase pathway and muscle damage. Insights from McArdle disease
Download from doi.orgExercise and Preexercise Nutrition as Treatment for McArdle Disease
Download from hdl.handle.netA novel RRM2B gene variant associated with Telbivudine-induced mitochondrial myopathy
UploadGenes and exercise intolerance: insights from McArdle disease
Download from hdl.handle.netNext-generation sequencing to estimate the prevalence of a great unknown: McArdle disease
Download from www.nature.comPhenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model.
Download from www.ncbi.nlm.nih.govMinimal symptoms in McArdle disease: A real PYGM genotype effect?
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