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Hereditary spastic paraplegia 18
- ... of undiagnosed ataxia. Neurology. 2015 May 5;84(18):1911. doi: ... mutations in hereditary spastic paraplegia. Brain. 2004 May;127(Pt 5):973-80. ...
- ... Troyer syndrome. Troyer syndrome is a type of hereditary spastic paraplegia (also called hereditary spastic paraparesis), a group of ... PubMed Lu J, Rashid F, Byrne PC. The hereditary spastic paraplegia protein spartin localises to mitochondria. J Neurochem. 2006 ...
- ... mutations are common in familial cases of complicated hereditary spastic paraplegia. Neurology. 2008 Apr 15;70(16 Pt 2): ... H. Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11). Eur J Neurol. ...
- ... Bassi MT. Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. Clin Genet. ... CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. Brain. 2009 Jun;132(Pt 6): ...
- ... of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain. 2015 Aug;138(Pt 8):2191-205. ...