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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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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.