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Spastic paraplegia 2
- ... mutations in the PLP1 gene that cause spastic paraplegia type 2 have been identified. Spastic paraplegia type 2 is characterized by movement problems, particularly muscle stiffness ( ...
- ... 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 PubMed Central ... spastic paraplegia because of Spatacsin mutations (SPG11). Eur J Neurol. ...
- ... JK. Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. Am J Hum Genet. 1999 Feb;64(2):563-9. doi: 10.1086/302258. Citation on ...
- ... 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 ...
- ... hydroxylase domain containing 1 FAXDC1 FLJ25287 SCS7 spastic paraplegia 35 (autosomal recessive) SPG35 Tests of FA2H PubMed FATTY ACID 2-HYDROXYLASE; FA2H NCBI Gene ClinVar Alderson NL, Rembiesa ...
- ... 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 ...
- ... Genomic structure and expression analysis of the spastic paraplegia gene, SPG7. Hum Genet. 1999 Jul-Aug;105(1-2):139-44. doi: 10.1007/s004399900087. Citation on ...
- ... 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. ...
- ... in the neurological problems that occur in spastic paraplegia type 49. More About This Health Condition KIAA0329 SPG49 tectonin beta-propeller repeat-containing protein 2 isoform 1 tectonin beta-propeller repeat-containing protein ...
- ... a frequent cause of complicated autosomal-recessive spastic paraplegia, ... and autophagy. Autophagy. 2014 Feb;10(2):374-5. doi: 10.4161/auto.27173. Epub ...