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Article

Brain glucose metabolism in adults with ataxia-telangiectasia and their asymptomatic relatives.

Brain : a journal of neurology - 1 Jun 2014

Volkow Nora D, Tomasi Dardo, Wang Gene-Jack, Studentsova Yana, Margus Brad, Crawford Thomas O

Abstract excerpt

Ataxia-telangiectasia is a recessive genetic disorder (ATM is the mutated gene) of childhood with severe motor impairments and whereas homozygotes manifest the disorder, heterozygotes are asymptomatic. Structural brain imaging and post-mortem studies in individuals with ataxia-telangiectasia have...

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Source

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Identifiers

PMID: 24747834
DOI: 10.1093/brain/awu092
PMCID: PMC4032102

Genes

ATM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-24747834-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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