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Hereditary spastic paraplegia 7
- ... Testing Registry: Hereditary spastic paraplegia Genetic Testing Registry: Hereditary spastic paraplegia 7 Hereditary spastic paraplegia National Organization for Rare Disorders ( ...
- ... RD. Structural 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 ...
- ... RD. Structural 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 ...
- ... Bassi MT. 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. ...
- ... j.pharmthera.2005.06.001. Epub 2005 Jul 7. Citation on PubMed
- ... Bassi MT. 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. ...
- ... deficiency and increased sensitivity to oxidative stress in hereditary spastic ... G, Marconi R. Spastic Paraplegia 7. 2006 Aug 24 [updated 2018 Oct 25]. In: ...
- ... Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic ... ER tubules. Trends Cell Biol. 2011 Jul;21(7):416-23. doi: 10.1016/j.tcb.2011. ...
- ... Troyer syndrome Autosomal recessive spastic paraplegia type 20 Hereditary ... a combination of central brain abnormality and motor neuron disease? J Neurol. 1999 Jul;246(7):556-61. doi: 10.1007/s004150050403. Citation on ...
- ... genotype-phenotype correlation. Brain. 2014 Jul;137(Pt 7):1921-30. doi: ... complicated hereditary spastic paraplegia. Mov Disord. 2015 May;30(6):854-8. ...