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Results 1 - 8 of 8 for Hereditary spastic paraplegia 12
  1. C19orf12 gene 
    ... individuals are considered to have a condition called hereditary spastic paraplegia type 43. More About This Health Condition NBIA3 NBIA4 protein C19orf12 SPG43 Tests of C19orf12 PubMed CHROMOSOME 19 OPEN READING FRAME 12; C19ORF12 NCBI Gene ClinVar Deschauer M, Gaul C, ...
    https://medlineplus.gov/genetics/gene/c19orf12 - Genetics
  2. SPG11 gene 
    ... 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 Mar 12. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/spg11 - Genetics
  3. CYP7B1 gene 
    ... 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 on PubMed Tsaousidou MK, Ouahchi K, Warner ...
    https://medlineplus.gov/genetics/gene/cyp7b1 - Genetics
  4. REEP1 gene 
    ... 12-22. doi: 10.1016/j.brainres.2013.12.008. Epub 2013 Dec 16. Citation on PubMed or Free article on PubMed Central Schlang KJ, Arning L, Epplen JT, Stemmler S. Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). BMC ...
    https://medlineplus.gov/genetics/gene/reep1 - Genetics
  5. SPAST gene 
    ... mechanism. J Cell Biol. 2018 Dec 3;217(12):4057-4069. doi: ... hereditary spastic paraplegia protein spastin. Nature. 2008 Jan 17;451(7176): ...
    https://medlineplus.gov/genetics/gene/spast - Genetics
  6. 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
  7. 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
  8. OPA3 gene 
    ... in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy. PLoS One. 2017 Jan 12;12(1):e0170090. doi: 10.1371/journal.pone. ...
    https://medlineplus.gov/genetics/gene/opa3 - Genetics