ataxia telangiectasia

• Real-life Wrist Movement Patterns Capture Motor Impairment in Individuals with Ataxia-Telangiectasia
• Reconstitution of the Ataxia-Telangiectasia Cellular Phenotype With Lentiviral Vectors.
• Robust reprogramming of Ataxia-Telangiectasia patient and carrier erythroid cells to induced pluripotent stem cells.
• Secondary enuresis and urological manifestations in children with ataxia telangiectasia.
• The clinical significance of complete class switching defect in Ataxia telangiectasia patients.
• The critically ill patient with ataxia-telangiectasia: a case series.
• The impact of glutamine supplementation on the symptoms of ataxia-telangiectasia: a preclinical assessment.
• The natural history of ataxia-telangiectasia (A-T): A systematic review
• The neurological phenotype of ataxia-telangiectasia: solving a persistent puzzle.
• Treatment of acute leukemia in children with ataxia telangiectasia (A-T).
• Treatment of Granulomas in Patients With Ataxia Telangiectasia.
• Two Novel Mutations Associated With Ataxia-Telangiectasia Identified Using an Ion AmpliSeq Inherited Disease Panel.
• Validation of a flow cytometry-based detection of γ-H2AX, to measure DNA damage for clinicalapplications.