Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Link
http://link.springer.com/content/pdf/10.1007/s00415-008-0858-y.pdf
Reference8 articles.
1. Casari G, De Fusco M, Ciarmatori S, et al. (1998) Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93:973–983
2. De Michele G, De Fusco M, Cavalcanti F, et al. (1998) A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24. 3. Am J Hum Genet 63:135–139
3. Elleuch N, Depienne C, Benomar A, et al. (2006) Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. Neurology 14; 66(5):654–659
4. McDermott CJ, White K, Bushby K, Shaw PJ (2000) Hereditary spastic paraparesis: a review of new developments. J Neurol Neurosurg Psychiatry 69:150–160
5. Nolden M, Ehses S, Koppen M, Bernacchia A, Rugarli EI, Langer T (2005) The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria. Cell 123(2):277–289
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