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Results 1 - 10 of 16 for Hereditary spastic paraplegia 10
  1. ... AH. SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat Genet. 2002 Aug;31(4):347-8. doi: 10.1038/ng937. Epub 2002 Jul 22. Citation on ...
  2. ... PubMed SPASTIN; SPAST NCBI Gene ClinVar Blackstone C. Hereditary spastic paraplegia. Handb Clin Neurol. 2018;148:633-652. doi: 10.1016/B978-0-444-64076-5.00041-7. ...
  3. ... genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. Brain. 2004 May;127(Pt 5):973-80. doi: 10.1093/brain/awh125. Epub 2004 Feb 25. Erratum ...
  4. ... Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. Clin Genet. 2011 Jun;79(6):523-30. doi: 10.1111/j.1399-0004.2010.01501.x. Citation ...
  5. ... mutations are common in familial cases of complicated hereditary spastic paraplegia. Neurology. 2008 Apr 15;70(16 Pt 2):1384-9. doi: 10.1212/01.wnl.0000294327.66106.3d. Epub 2008 ...
  6. ... the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. Am J Hum Genet. 2007 Jan;80(1):152-61. doi: 10.1086/510782. Epub 2006 Dec 1. Citation on ...
  7. ... CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. Brain. 2009 Jun;132(Pt 6):1589-600. doi: 10.1093/brain/awp073. Epub 2009 May 12. Citation ...
  8. ... Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet. 2006 Aug;79(2):365-9. doi: 10.1086/505361. Epub 2006 May 26. Citation on ...
  9. ... TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia. Mov Disord. 2015 May;30(6):854-8. doi: 10.1002/mds.26196. Epub 2015 Mar 15. Citation ...
  10. ... Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). Hum Mutat. 2010 Apr;31(4):E1251-60. doi: 10.1002/humu.21205. Citation on PubMed Edvardson S, ...
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