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SOD1 mutations in amyotrophic lateral sclerosis

✍ Scribed by S. Battistini; F. Giannini; G. Greco; G. Bibbò; L. Ferrera; V. Marini; R. Causarano; M. Casula; G. Lando; M. C. Patrosso; C. Caponnetto; P. Origone; A. Marocchi; A. Del Corona; G. Siciliano; P. Carrera; V. Mascia; M. Giagheddu; C. Carcassi; S. Orrù; C. Garrè; S. Penco


Publisher
Springer
Year
2005
Tongue
English
Weight
283 KB
Volume
252
Category
Article
ISSN
0340-5354

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A novel SOD1 mutation in a young amyotro
✍ Eleni Georgoulopoulou; Cinzia Gellera; Cinzia Bragato; Patrizia Sola; Annalisa C 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 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