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Survival probability in ataxia telangiectasia.
Arch Dis Child. 2006 Jul;91(7):610-1. doi: 10.1136/adc.2006.094268.
2
Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.
J Allergy Clin Immunol. 2011 Aug;128(2):382-9.e1. doi: 10.1016/j.jaci.2011.03.052. Epub 2011 Jun 12.
4
The critically ill patient with ataxia-telangiectasia: a case series.
Pediatr Crit Care Med. 2012 Mar;13(2):e84-90. doi: 10.1097/PCC.0b013e318219281c.
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Cognitive phenotype in ataxia-telangiectasia.
Pediatr Neurol. 2014 Sep;51(3):297-310. doi: 10.1016/j.pediatrneurol.2014.04.027. Epub 2014 May 5.
6
Movement disorder in ataxia-telangiectasia: treatment with amantadine sulfate.
J Child Neurol. 2013 Feb;28(2):155-60. doi: 10.1177/0883073812441999. Epub 2012 May 1.
7
Real-life Wrist Movement Patterns Capture Motor Impairment in Individuals with Ataxia-Telangiectasia.
Cerebellum. 2023 Apr;22(2):261-271. doi: 10.1007/s12311-022-01385-5. Epub 2022 Mar 16.
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Ataxia-telangiectasia in Iran: clinical and laboratory features of 104 patients.
Pediatr Neurol. 2007 Jul;37(1):21-8. doi: 10.1016/j.pediatrneurol.2007.03.002.
9
Immunodeficiency and infections in ataxia-telangiectasia.
J Pediatr. 2004 Apr;144(4):505-11. doi: 10.1016/j.jpeds.2003.12.046.
10
Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan.
Int J Hematol. 2009 Nov;90(4):455-462. doi: 10.1007/s12185-009-0408-0. Epub 2009 Aug 25.

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2
MRI and Biomarkers in Early Detection of Pulmonary Changes in Ataxia-Telangiectasia.
Med Sci Monit. 2025 Aug 14;31:e946570. doi: 10.12659/MSM.946570.
3
Nutritional status and metabolic alterations in patients with ataxia-telangiectasia.
Orphanet J Rare Dis. 2025 Jul 1;20(1):330. doi: 10.1186/s13023-025-03785-2.
6
Novel pathogenic ATM mutation with ataxia-telangiectasia in a Chinese family.
Front Genet. 2024 Nov 28;15:1491649. doi: 10.3389/fgene.2024.1491649. eCollection 2024.
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Immune profiling and functional analysis of NK and T cells in ataxia telangiectasia.
Front Immunol. 2024 Aug 6;15:1377955. doi: 10.3389/fimmu.2024.1377955. eCollection 2024.
8
Case report: Compound heterozygous variants detected by next-generation sequencing in a Tunisian child with ataxia-telangiectasia.
Front Neurol. 2024 May 31;15:1344018. doi: 10.3389/fneur.2024.1344018. eCollection 2024.
9
Ataxia-telangiectasia in Latin America: clinical features, immunodeficiency, and mortality in a multicenter study.
Immunol Res. 2024 Aug;72(4):864-873. doi: 10.1007/s12026-024-09494-5. Epub 2024 Jun 4.
10
Ataxia-telangiectasia clinical trial landscape and the obstacles to overcome.
Expert Opin Investig Drugs. 2023 Jul-Dec;32(8):693-704. doi: 10.1080/13543784.2023.2249399. Epub 2023 Aug 28.

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1
Consequences of the delayed diagnosis of ataxia-telangiectasia.
Pediatrics. 1998 Jul;102(1 Pt 1):98-100. doi: 10.1542/peds.102.1.98.

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