- [Ataxia telangiectasia. A prototype of neurological involvement in primary immune deficiencies].
- A Case of Ataxia-telangiectasia Presented With Hemophagocytic Syndrome.
- A Novel Splice Site Mutation of the ATM Gene Associated with Ataxia Telangiectasia.
- A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing.
- 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.
- Association between ATM rs1801516 polymorphism and cancer susceptibility: a meta-analysis involving 12,879 cases and 18,054 controls.
- Astrocytes restore connectivity and synchronization in dysfunctional cerebellar networks.
- Ataxia Telangiectasia (Louis-Bar Syndrome).
- Ataxia telangiectasia alters the ApoB and reelin pathway.
- Ataxia telangiectasia: why should the ERS care?
- Ataxia-telangiectasia with a novel ATM gene mutation and Burkitt leukemia: A case report.
- Ataxia-telangiectasia: A new remitting form with a peculiar transcriptome signature
- Ataxia-telangiectasia: A review of movement disorders, clinical features and genotype correlations - Addendum.
- ATM directs DNA damage responses and proteostasis via genetically separable pathways.
- Atm reactivation reverses ataxia telangiectasia phenotypes in vivo.
- ATM-dependent activation of SIM2s regulates homologous recombination and epithelial-mesenchymal transition.
- B-cell subsets imbalance and reduced expression of CD40 in ataxia-telangiectasia patients.
- Cerebral microbleeds and iron depletion of dentate nuclei in ataxia-telangiectasia.
- DNA damage and repair in individuals with ataxia-telangiectasia and their parents.
- Elevated IgM levels as a marker for a unique phenotype in patients with Ataxia telangiectasia.
