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Results 1 - 10 of 11 for Hereditary spastic paraplegia 4
  1. SPART gene 
    ... 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 PubMed Robay D, Patel H, Simpson MA, Brown NA, ... paraplegia, has a complex subcellular localization suggesting diverse roles ...
    https://medlineplus.gov/genetics/gene/spart - Genetics
  2. FA2H gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/fa2h - Genetics
  3. SPAST gene 
    ... account for approximately 40 percent of autosomal dominant hereditary spastic paraplegias. More About This Health Condition ADPSP FSP2 KIAA1083 SPAST_HUMAN spastic paraplegia 4 (autosomal dominant; spastin) SPG4 Tests of SPAST PubMed ...
    https://medlineplus.gov/genetics/gene/spast - Genetics
  4. 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 ...
    https://medlineplus.gov/genetics/gene/spg7 - Genetics
  5. GJC2 gene 
    ... Lamantea E, Zeviani M, Scherer SS, Pareyson D. Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. Brain. 2009 Feb;132(Pt 2):426-38. doi: 10.1093/brain/awn328. Epub 2008 Dec 4. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/gjc2 - Genetics
  6. ATL1 gene 
    ... require amputation of the surrounding area.At least four ATL1 gene ... that cause spastic paraplegia type 3A (described above). It is unclear why ...
    https://medlineplus.gov/genetics/gene/atl1 - Genetics
  7. ZFYVE26 gene 
    ... a frequent cause of complicated autosomal-recessive spastic paraplegia, including ... hereditary spastic paraparesis and autophagy. Autophagy. 2014 Feb;10( ...
    https://medlineplus.gov/genetics/gene/zfyve26 - Genetics
  8. TUBB4A gene 
    ... cause hereditary dystonia. Ann Neurol. 2013 Apr;73(4):546-53. doi: ... complicated hereditary spastic paraplegia. Mov Disord. 2015 May;30(6):854-8. ...
    https://medlineplus.gov/genetics/gene/tubb4a - Genetics
  9. 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
  10. ALDH18A1 gene 
    ... of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain. 2015 Aug;138(Pt 8):2191-205. ...
    https://medlineplus.gov/genetics/gene/aldh18a1 - Genetics
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