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Hereditary spastic paraplegia 2
- ... M, Stenager E, Wermuth L, Winther Kristensen B. Hereditary spastic paraplegia type 8: Neuropathological findings. Brain Pathol. 2018 Mar;28(2):292-294. doi: 10.1111/bpa.12494. No ...
- ... 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. ...
- ... Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet. 2006 Aug;79(2):365-9. doi: 10.1086/505361. Epub 2006 ...
- ... 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. ...
- ... 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 ...
- ... Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia ... fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic ...
- ... PubMed SPASTIN; SPAST ... start sites and active export from the nucleus. Exp Cell Res. 2005 Oct 1;309(2):358-69. doi: 10.1016/j.yexcr.2005. ...
- ... a frequent cause of complicated autosomal-recessive spastic paraplegia, ... and autophagy. Autophagy. 2014 Feb;10(2):374-5. doi: 10.4161/auto.27173. Epub ...
- ... 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 ...
- ... deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J Cell Biol. 2003 Nov 24;163(4): ... genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. Brain. 2004 May;127(Pt 5):973-80. ...