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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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Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial.
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Low thymic output and reduced heterogeneity of alpha/beta, but not gamma/delta, T lymphocytes in infants with ataxia-telangiectasia.
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Minimum effective betamethasone dosage on the neurological phenotype in patients with ataxia-telangiectasia: a multicenter observer-blind study.
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Neurovisual Assessment in Children with Ataxia Telangiectasia.
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Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders.