Article

New human ATM variants are able to regain ATM functions in Ataxia Telangiectasia disease

2022-08-09

Abstract excerpt

<title>Abstract</title> <p>Ataxia Telangiectasia is a rare neurodegenerative disease caused by biallelic mutations in the Ataxia Telangiectasia Mutated gene. No cure is currently available for these patients but positive effects on neurologic features in AT patients have been achieved by dexamethasone administration through autologous erythrocytes (EryDex) in phase II and phase III clinical trials, leading us to...

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Literature Corpus work: 789408ec-5e32-5704-a157-2603b550a109
DOI: 10.21203/rs.3.rs-1926119/v1

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