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Article

Phenotype and management of neurologic intronic repeat disorders (NIRDs).

Revue neurologique - 1 Mar 2023

Finsterer J

Abstract excerpt

During recent years an increasing number of neurologic disorders due to expanded tri-, tetra-, penta-, or hexa-nucleotide repeat motifs in introns of various genes have been described (neurologic intronic repeat disorders (NIRDs)). The repeat may be pathogenic in the heterozygous or homozygous form. Repeat lengths vary considerably and can be stable or unstable during transmission to the next generation. The most...

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Identifiers

PMID: 36371266
DOI: 10.1016/j.neurol.2022.09.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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