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A novel SOD1 mutation in amyotrophic lateral sclerosis with a distinct clinical phenotype

✍ Scribed by Hu, Jun; Chen, Kangning; Ni, Bing; Li, Lusi; Chen, Guisheng; Shi, Shugui

Book ID
118012745
Publisher
Informa plc
Year
2011
Tongue
English
Weight
413 KB
Volume
13
Category
Article
ISSN
1471-180X

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A novel SOD1 mutation in a young amyotro
A novel SOD1 mutation in a young amyotrophic lateral sclerosis patient with a very slowly progressive clinical course
✍ Eleni Georgoulopoulou; Cinzia Gellera; Cinzia Bragato; Patrizia Sola; Annalisa C πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 370 KB

## Abstract Approximately 10% of amyotrophic lateral sclerosis (ALS) cases are familial, and the Cu/Zn superoxide dismutase (SOD1) gene mutation accounts for 20% of them. More than 100 SOD1 mutations have been described, some with peculiar phenotypes. Moreover, mutations in the SOD1 gene have been