- A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA.
- Associazione Nazionale Attasia Telangiectasia
- Ataxia telangiectasia, Menkes kinky hair disease and neurocutaneous melanosis.
- Ataxia-telangiectasia: A new remitting form with a peculiar transcriptome signature
- ATM Kinase Dead: From Ataxia Telangiectasia Syndrome to Cancer
- Atm reactivation reverses ataxia telangiectasia phenotypes in vivo.
- ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T.
- Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis.
- Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms
- Development of global rating instruments for pediatric patients with ataxia telangiectasia.
- Dexamethasone improves redox state in ataxia telangiectasia cells by promoting an NRF2-mediated antioxidant response.
- Dexamethasone partially rescues ataxia telangiectasia-mutated (ATM) deficiency in ataxia telangiectasia by promoting a shortened protein variant retaining kinase activity.
- DNA damage and transcriptional regulation in iPSC-derived neurons from Ataxia Telangiectasiapatients.
- Epstein–Barr virus-associated smooth muscle tumor in a female with ataxia telangiectasia: A case report
- Functional Classification of the ATM Variant c.7157C>A and In Vitro Effects of Dexamethasone
- Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.
- Gli amici di Valentina
- In vivo effects of dexamethasone on blood gene expression in ataxia telangiectasia.
- Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial.
- Linear growth and endocrine function in children with ataxia telangiectasia.
Page 1 of 2
- 1
- 2