First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia
β Scribed by Magariello, A.; Tortorella, C.; Patitucci, A.; Tortelli, R.; Liguori, M.; Mazzei, R.; Conforti, F. L.; Citrigno, L.; Ungaro, C.; Simone, I. L.; Muglia, M.
- Book ID
- 119828317
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 553 KB
- Volume
- 20
- Category
- Article
- ISSN
- 1351-5101
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Hereditary spastic paraplegia (HSP) is a heterogeneous condition characterised in its pure form by progressive lower limb spasticity. Mutations in SPG4 (encoding spastin) may be responsible for up to 40% of autosomal dominant (AD) cases. A cohort of 41 mostly pure HSP patients from Britain and Austr
Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. Autosomal dominant hereditary spastic paraplegia 4 linked to chromosome 2p (SPG4) is the most co