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Hereditary spastic paraplegia 26
- ... novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP). Neurogenetics. 2009 Apr;10(2):105-10. doi: 10.1007/s10048-008-0163-z. Epub 2008 Nov 26. Citation on PubMed Zuchner S, Wang G, Tran- ...
- ... 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 May 26. Citation on PubMed or Free article on PubMed ...
- ... RD. Structural basis of microtubule severing by the hereditary spastic paraplegia ... Nat Struct Mol Biol. 2019 Aug;26(8):671-678. doi: 10.1038/s41594-019- ...
- Troyer syndrome is a type of hereditary spastic paraplegia, also called hereditary spastic paraparesis. Hereditary spastic paraplegias are a group of genetic disorders characterized by progressive stiffness (spasticity) and weakness of ...
- ... paraplegia type 15 is classified as a complex hereditary spastic paraplegia because it involves all four limbs as well ... paraplegia and retinal degeneration SPG15 Genetic Testing Registry: Hereditary spastic paraplegia Genetic Testing Registry: Hereditary spastic paraplegia 15 Autosomal ...
- ... 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 ...
- ... MT. ZFYVE26/SPASTIZIN: a close link between complicated hereditary spastic paraparesis and autophagy. Autophagy. 2014 Feb;10(2):374-5. doi: 10.4161/auto.27173. Epub 2013 Nov 26. Citation on PubMed Vantaggiato C, Crimella C, Airoldi ...