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Spastic paraplegia 7
- ... the disorder. Hereditary spastic paraplegia, paraplegin type Spastic paraplegia 7 Genetic Testing Registry: Hereditary spastic paraplegia Genetic Testing ...
- ... FLJ37308 MGC126331 MGC126332 paraplegin, isoform 1 PGN spastic paraplegia 7 spastic paraplegia 7 (pure and complicated autosomal recessive) SPG5C SPG7_HUMAN ...
- ... the brain.CYP7B1 gene mutations that cause spastic paraplegia type 5A reduce or eliminate the activity of oxysterol 7-alpha-hydroxylase. In the brain, a decrease in ...
- ... basis of microtubule severing by the hereditary spastic paraplegia protein spastin. Nature. 2008 Jan 17;451(7176):363-7. doi: 10.1038/nature06482. Citation on PubMed or ...
- ... basis of microtubule severing by the hereditary spastic paraplegia protein spastin. Nature. 2008 Jan 17;451(7176):363-7. doi: 10.1038/nature06482. Citation on PubMed or ...
- ... j.pharmthera.2005.06.001. Epub 2005 Jul 7. Citation on PubMed
- ... Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. Clin Genet. 2012 Feb;81(2):150-7. doi: 10.1111/j.1399-0004.2011.01624. ...
- ... M. Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. Am J Med Genet. 2000 May 15;92(2):122-7. doi: 10.1002/(sici)1096-8628(20000515)92: ...
- ... M. Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. Am J Med Genet. 2000 May 15;92(2):122-7. doi: 10.1002/(sici)1096-8628(20000515)92: ...
- ... of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. Clin Genet. ... ER tubules. Trends Cell Biol. 2011 Jul;21(7):416-23. doi: 10.1016/j.tcb.2011. ...