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Results 1 - 10 of 15 for Hereditary spastic paraplegia 31
  1. Spastic paraplegia type 31 
    ... 31 Spastic paraplegia 31 SPG31 Genetic Testing Registry: Hereditary spastic paraplegia 31 Genetic Testing Registry: Hereditary spastic paraplegia Autosomal dominant ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-31 - Genetics
  2. REEP1 gene 
    ... Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet. 2006 Aug;79(2): ...
    https://medlineplus.gov/genetics/gene/reep1 - Genetics
  3. 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 ... paraplegia, has a complex subcellular localization suggesting diverse roles ...
    https://medlineplus.gov/genetics/gene/spart - Genetics
  4. Troyer syndrome 
    ... 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 Proukakis C, Cross H, Patel ... a complicated hereditary spastic paraplegia. J Neurol. 2004 Sep;251(9):1105-10. ...
    https://medlineplus.gov/genetics/condition/troyer-syndrome - Genetics
  5. 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. ...
    https://medlineplus.gov/genetics/gene/fa2h - Genetics
  6. Fatty acid hydroxylase-associated neurodegeneration 
    ... 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. ...
    https://medlineplus.gov/...-hydroxylase-associated-neurodegeneration - Genetics
  7. Spastic paraplegia type 5A 
    ... Bassi MT. Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. Clin Genet. 2012 Feb;81(2):150-7. doi: 10.1111/j.1399-0004.2011.01624.x. Epub 2011 Jan 31. Citation on PubMed Criscuolo C, Filla A, Coppola ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-5a - Genetics
  8. CYP7B1 gene 
    ... Bassi MT. Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. Clin Genet. 2012 Feb;81(2):150-7. doi: 10.1111/j.1399-0004.2011.01624.x. Epub 2011 Jan 31. Citation on PubMed Goizet C, Boukhris A, Durr ...
    https://medlineplus.gov/genetics/gene/cyp7b1 - Genetics
  9. Spastic paraplegia type 2 
    ... inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic ... themes emerge in the hereditary spastic paraplegias. J Med Genet. 2003 Feb;40( ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-2 - Genetics
  10. Spastic paraplegia type 3A 
    ... Spastic paraplegia type 3A is usually a pure hereditary spastic paraplegia, although a few complex cases have been reported. ... of hereditary spastic paraplegias known as autosomal dominant hereditary spastic paraplegia, which has an estimated prevalence of 2 to ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-3a - Genetics
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