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Article

Clinical variability in ataxia-telangiectasia.

Journal of neurology - 1 Jul 2015

Lohmann Ebba, Krüger Stefanie, Hauser Ann-Kathrin, Hanagasi Hasmet, Guven Gamze, Erginel-Unaltuna Nihan, Biskup Saskia, Gasser Thomas

Abstract excerpt

Ataxia-telangiectasia (A-T) is an autosomal recessive inherited disease characterized by progressive childhood-onset cerebellar ataxia, oculomotor apraxia, choreoathetosis and telangiectasias of the conjunctivae. Further symptoms may be immunodeficiency and frequent infections, and an increased r...

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Identifiers

PMID: 25957637
DOI: 10.1007/s00415-015-7762-z

Genes

ATM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25957637-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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