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A single ataxia telangiectasia gene with a product similar to PI-3 kinase.
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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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Dexamethasone improves redox state in ataxia telangiectasia cells by promoting an NRF2-mediated antioxidant response.
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Dexamethasone partially rescues ataxia telangiectasia-mutated (ATM) deficiency in ataxia telangiectasia by promoting a shortened protein variant retaining kinase activity.
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Functional Classification of the ATM Variant c.7157C>A and In Vitro Effects of Dexamethasone
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Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.
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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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Modulation of hypersensitivity to oxidative DNA damage in ATM defective cells induced by potassium bromate by inhibition of the Poly (ADP-ribose) polymerase (PARP).
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Nano-Mechanical Characterization of Ataxia Telangiectasia Cells Treated with Dexamethasone.
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Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders.
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Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network
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Proteomics and transcriptomics analyses of ataxia telangiectasia cells treated with Dexamethasone.