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Ataxia-telangiectasia: A new remitting form with a peculiar transcriptome signature
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ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T.
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Development of global rating instruments for pediatric patients with ataxia telangiectasia.
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Functional Classification of the ATM Variant c.7157C>A and In Vitro Effects of Dexamethasone
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In vivo effects of dexamethasone on blood gene expression in ataxia telangiectasia.
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Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial.
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Mild Neurological Phenotype Associated with Hypomorphic Variants in the Ataxia-Telangiectasia Mutated Gene