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Article

Amyotrophic lateral sclerosis patients with various gene mutations show diverse motor phenotypes and survival in China.

Journal of medical genetics - 29 Aug 2024

Jiang Qirui, Lin Junyu, Wei Qianqian, Yang Tianmi, Hou Yanbing, Zhang Lingyu, Ou Ruwei, Xiao Yi, Wang Shichan, Zheng Xiaoting, Li Chunyu, Shang Huifang

Abstract excerpt

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder characterised by progressive degeneration of motor neurons. Genetic factors have a substantial impact on ALS. Therefore, this study aimed to explore the correlation between genotype (SOD1, TARDBP, FUS, C9orf72) and phenotype in ALS. METHODS: Genetic analysis was performed on 2038 patients with ALS, among which 1696...

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Source

Identifiers

PMID: 38886047
DOI: 10.1136/jmg-2024-109909

Genes

SOD1
FUS
TARDBP

Provenance

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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