Large deletion involving the 5?-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia
- 6 January 2005
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 133A (1) , 13-17
- https://doi.org/10.1002/ajmg.a.30510
Abstract
No abstract availableKeywords
This publication has 19 references indexed in Scilit:
- Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleusHuman Molecular Genetics, 2003
- Hereditary Spastic Paraplegia SPG13 Is Associated with a Mutation in the Gene Encoding the Mitochondrial Chaperonin Hsp60American Journal of Human Genetics, 2002
- Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamicsHuman Molecular Genetics, 2002
- An atypical intronic deletion widens the spectrum of mutations in hereditary spastic paraplegiaNeurology, 2001
- Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesisJournal of Medical Genetics, 2000
- Spectrum of SPG4 mutations in autosomal dominant spastic paraplegiaHuman Molecular Genetics, 2000
- Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegiaNature Genetics, 1999
- Hereditary Spastic ParaplegiaNeurology, 1996
- Strategies for multilocus linkage analysis in humans.Proceedings of the National Academy of Sciences, 1984
- CLASSIFICATION OF THE HEREDITARY ATAXIAS AND PARAPLEGIASThe Lancet, 1983