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Hereditary spastic paraplegia 4
- ... family. Spastic paraplegia 4 SPG4 Genetic Testing Registry: Hereditary spastic paraplegia 4 Genetic Testing Registry: Hereditary spastic paraplegia Hereditary spastic ...
- ... 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 H, ... a complicated hereditary spastic paraplegia. J Neurol. 2004 Sep;251(9):1105-10. ...
- ... paraplegia type 15 is classified as a complex hereditary spastic paraplegia because it involves all four limbs as well as additional features, including abnormalities ...
- ... 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. Citation ...
- ... deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J Cell Biol. 2003 Nov 24;163(4):777-87. doi: 10.1083/jcb.200304112. Epub ...
- ... REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain. 2008 Apr;131(Pt 4):1078-86. doi: 10.1093/brain/awn026. Epub ...
- ... A. SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. Neurology. 2006 Jan 10;66(1):112-4. doi: 10.1212/01.wnl.0000191390.20564.8e. ...
- ... Clinical and genetic analysis of Taiwanese patients with hereditary spastic paraplegia type 5. Eur J Neurol. 2015 Jan;22(1):211-4. doi: 10.1111/ene.12407. Epub 2014 Mar ...
- ... ZN, Finsterer J, Bohlega S. Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T. Gene. 2014 Feb 15;536(1):217-20. doi: 10.1016/j.gene.2013.11.043. Epub 2013 Dec 4. Citation on PubMed
- L1 syndrome describes a group of conditions that primarily affect the nervous system and occur almost exclusively in males. These conditions vary in severity ...