- ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia.
- Eye Movement Disorders in Movement Disorders
- Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.
- Genotype, extrapyramidal features and severity of variant Ataxia-Telangiectasia.
- Growth and nutrition in children with ataxia telangiectasia.
- Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.
- Home-based Complex Intervention for Children With Ataxia Telangiectasia
- Immune deficiency in Ataxia-Telangiectasia: a longitudinal study of 44 patients.
- Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene.
- Longitudinal analysis of the neurological features of ataxia-telangiectasia.
- Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.
- Mechanisms of Non-canonical Activation of Ataxia Telangiectasia Mutated.
- Microbiological surveillance in lung disease in ataxia telangiectasia.
- Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
- Multidisciplinary care of children and young people with ataxia-telangiectasia.
- Peripheral neuropathy in ataxia-telangiectasia: Newly characterized, has potential as a biomarker
- Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia.
- Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone (RAMP)
- Structures of closed and open conformations of dimeric human ATM.
- Targeting the Ataxia Telangiectasia Mutated-null phenotype in chronic lymphocytic leukemia with pro-oxidants.
