ataxia telangiectasia

• [Ataxia-telangiectasia: a review].
• [Haematuria associated with ataxia telangiectasia disease: A literature review and a proposed treatment for a difficult to manage haematuria].
• A new ataxia-telangiectasia mutation in an 11-year-old female.
• A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis.
• A Novel Splice Site Mutation of the ATM Gene Associated with Ataxia Telangiectasia.
• A Patient-Specific Stem Cell Model to Investigate the Neurological Phenotype Observed in Ataxia-Telangiectasia.
• Acute myeloid leukemia in a patient with ataxia-telangiectasia: a case report and review of the literature.
• Allogeneic Stem Cell Transplantation after Fanconi Anemia Conditioning in Children with Ataxia-Telangiectasia Results in Stable T Cell Engraftment and Lack of Infections despite Mixed Chimerism.
• Altered corticomotor-cerebellar integrity in young ataxia telangiectasia patients.
• Anesthetic and perioperative risk in the patient with Ataxia-Telangiectasia.