- A Novel ATM Gene Mutation Affecting Splicing in an Ataxia-Telangiectasia Patient
- A Novel Splice Site Mutation of the ATM Gene Associated with Ataxia Telangiectasia.
- Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia.
- Ataxia-telangiectasia: mild neurological presentation despite null ATM mutation and severe cellular phenotype.
- ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia.
- ATM mutation spectrum in Russian children with ataxia-telangiectasia.
- ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.
- Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
- Clinical Characterization and Mutation Analysis of 13 Iranian Ataxia Telangiectasia Patients: Introducing Two Novel Mutations
- Clinical variability in ataxia-telangiectasia.
