- A novel, ataxic mouse model of Ataxia Telangiectasia caused by a clinically relevant nonsense mutation
- Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome.
- Ataxia-telangiectasia: A review of movement disorders, clinical features and genotype correlations - Addendum.
- Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations.
- Ataxia-telangiectasia: atypical presentation and toxicity of cancer treatment.
- ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies
- Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia-Telangiectasia
- Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
- More than ataxia - Movement disorders in ataxia-telangiectasia.
- Myoclonus-Dystonia Presentation of ATM Gene Mutation in a Canadian Mennonite
- NMR- and MD simulation-based structural characterization of the membrane-associating FATC domain of ataxia telangiectasia mutated.
- Severe Late Toxicity After Adjuvant Breast Radiotherapy in a Patient with a Germline Ataxia Telangiectasia Mutated Gene: Future Treatment Decisions.
