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Results 1 - 7 of 7 for Hereditary spastic paraplegia 17
  1. SPAST gene 
    ... 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. ...
    https://medlineplus.gov/genetics/gene/spast - Genetics
  2. SPG7 gene 
    ... deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J Cell Biol. 2003 Nov 24;163(4):777-87. doi: 10.1083/jcb.200304112. Epub 2003 Nov 17. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/spg7 - Genetics
  3. WASHC5 gene 
    ... a novel valosin-containing protein binding partner linking hereditary spastic ... multiprotein complex. Dev Cell. 2009 Nov;17(5):712-23. doi: 10.1016/j.devcel. ...
    https://medlineplus.gov/genetics/gene/washc5 - Genetics
  4. C19orf12 gene 
    ... individuals are considered to have a condition called hereditary spastic paraplegia type 43. More About This Health Condition NBIA3 ... Zuchner S, Blackstone C, Fischbeck KH, Burnett BG. Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in ...
    https://medlineplus.gov/genetics/gene/c19orf12 - Genetics
  5. GJC2 gene 
    ... Lamantea E, Zeviani M, Scherer SS, Pareyson D. Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. ...
    https://medlineplus.gov/genetics/gene/gjc2 - Genetics
  6. TUBB4A gene 
    ... TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia. Mov Disord. 2015 May;30(6):854-8. ...
    https://medlineplus.gov/genetics/gene/tubb4a - Genetics
  7. OPA3 gene 
    ... 10.1136/jmedgenet-2013-101774. Epub 2013 Oct 17. Citation on PubMed Huizing M, Dorward H, Ly ... in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy. PLoS One. 2017 Jan 12;12( ...
    https://medlineplus.gov/genetics/gene/opa3 - Genetics