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Article

Autopsy study of cerebellar degeneration in siblings with ataxia-telangiectasia-like disorder.

Acta neuropathologica - 1 Apr 2010

Oba Daiju, Hayashi Masaharu, Minamitani Motoyuki, Hamano Shinichiro, Uchisaka Naoki, Kikuchi Akira, Kishimoto Hiroshi, Takagi Masatoshi, Morio Tomohiro, Mizutani Shuki

Abstract excerpt

Ataxia-telangiectasia-like disorder (ATLD) is caused by mutations of the MRE11 gene and is characterized by cerebellar ataxia, increased frequency of chromosomal translocations and hypersensitivity to ionizing radiation. ATLD is a rare genetic disease and the associated pathological changes in the brain are unclear. Here, we report the neuropathological findings in the first cases of genetically confirmed ATLD in...

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PMID: 20087742
DOI: 10.1007/s00401-010-0639-4

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MRE11

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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