-
A child with polyarthritis and chronic lung disease: a case report of ataxia-telangiectasia
-
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 Presenting as Tremor-Predominant Syndrome in an Adult Patient without Ataxia and Telangiectasias
-
Ataxia-telangiectasia: A new remitting form with a peculiar transcriptome signature
-
ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies
-
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.
-
Biomarkers in Ataxia-Telangiectasia: a Systematic Review
-
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.
Strona 1 z 2
- 1
- 2