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Hereditary spastic paraplegia 16
- ... 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 ... spastic paraplegia because of Spatacsin mutations (SPG11). Eur J Neurol. ...
- ... 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 ...
- ... 1468-1331.2012.03665.x. Epub 2012 Feb 16. Citation on PubMed ... and REEP1 in hereditary spastic paraplegia. Clin Genet. 2011 Jun;79(6):523-30. ...
- ... 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. ...
- ... Lamantea E, Zeviani M, Scherer SS, Pareyson D. Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. ...
- ... of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain. 2015 Aug;138(Pt 8):2191-205. ...
- ... j.ymgme.2010.03.005. Epub 2010 Mar 16. Citation on PubMed or Free article on PubMed Central Li Y, Li J, Jia X, Xiao X, Li S, Guo X. Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy. PLoS One. 2017 Jan 12;12( ...