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• W2924453485 abstract "Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by selective involvement of motor neurons in the central nervous system (CNS). The most common causative gene of ALS in the Chinese population is the Cu/Zn superoxide dismutase 1 (SOD1) gene, which accounts for 20-42.9% of familial ALS (FALS) and 1-2% of sporadic ALS (SALS) cases. In this study, we identify three novel SOD1 mutations, Gly17Cys, Pro75Ser, and His121Gln, in four ALS pedigrees. A functional analysis was performed, and the results showed that all three mutations could lead to the formation of misfolded proteins. In addition, genotype-phenotype correlations in these patients are also described. Our study helps to characterize the genotype and phenotype of ALS with SOD1 mutations." @default.
• W2924453485 created "2019-04-01" @default.
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• W2924453485 date "2019-03-19" @default.
• W2924453485 modified "2023-09-24" @default.
• W2924453485 title "Identification and functional analysis of novel mutations in the <i>SOD1</i> gene in Chinese patients with amyotrophic lateral sclerosis" @default.
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• W2924453485 doi "https://doi.org/10.1080/21678421.2019.1582668" @default.
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• W2924453485 hasPublicationYear "2019" @default.
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