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Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders.

Neurogenetics - 1 Oct 2023

Si Lianghao, Wang Zhanjun, Li Xu-Ying, Song Yang, Yao Tingyan, Xu Erhe, Wang Xianling, Wang Chaodong

Abstract excerpt

Brain iron accumulation disorders (BIADs) are a group of diseases characterized by iron overload in deep gray matter nuclei, which is a common feature of neurodegenerative diseases. Although genetic factors have been reported to be one of the etiologies, much more details about the genetic background and molecular mechanism of BIADs remain unclear. This study aimed to illustrate the genetic characteristics of...

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PMID: 37453004
DOI: 10.1007/s10048-023-00725-9

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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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