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Results 1 - 6 of 6 for Hereditary spastic paraplegia 27
  1. GJC2 gene 
    ... and oligodendrocyte connexins. J Neurosci. 2007 Dec 19;27(51):13949-57. doi: ... Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. ...
    https://medlineplus.gov/genetics/gene/gjc2 - Genetics
  2. FA2H gene 
    ... doi: 10.1074/jbc.M406649200. Epub 2004 Aug 27. Citation on PubMed ... form of hereditary spastic paraplegia (SPG35). Hum Mutat. 2010 Apr;31(4):E1251- ...
    https://medlineplus.gov/genetics/gene/fa2h - Genetics
  3. SPAST gene 
    ... PubMed SPASTIN; SPAST NCBI Gene ClinVar Blackstone C. Hereditary spastic paraplegia. Handb Clin Neurol. 2018;148:633-652. doi: ... RD. Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin. Nature. 2008 Jan 17;451(7176): ...
    https://medlineplus.gov/genetics/gene/spast - Genetics
  4. REEP1 gene 
    ... Arning L, Epplen JT, Stemmler S. Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). BMC ... Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet. 2006 Aug; ...
    https://medlineplus.gov/genetics/gene/reep1 - Genetics
  5. ALDH18A1 gene 
    ... of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain. 2015 Aug;138(Pt 8):2191-205. ... j.ajhg.2015.08.001. Epub 2015 Aug 27. Citation on PubMed ... dominant spastic paraplegia SPG9: loss of function effect and plausibility of ...
    https://medlineplus.gov/genetics/gene/aldh18a1 - Genetics
  6. OPA3 gene 
    ... 1007/s10048-014-0416-y. Epub 2014 Aug 27. Citation on PubMed
    https://medlineplus.gov/genetics/gene/opa3 - Genetics