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Hereditary spastic paraplegia 15
- ... Testing Registry: Hereditary spastic paraplegia Genetic Testing Registry: Hereditary spastic paraplegia 15 Autosomal recessive spastic paraplegia type 15 Hereditary spastic ...
- ... mutations are common in familial cases of complicated hereditary spastic paraplegia. Neurology. 2008 Apr 15;70(16 Pt 2):1384-9. doi: 10. ... H. Clinical heterogeneity and genotype-phenotype correlations in hereditary ... (SPG11). Eur J Neurol. 2008 Oct;15(10):1065-70. doi: 10.1111/j.1468- ...
- ... Spastic paraplegia type 3A accounts for 10 to 15 percent of all autosomal dominant hereditary spastic paraplegia cases. Mutations in the ATL1 gene cause spastic ...
- ... 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. ...
- ... TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia. Mov Disord. 2015 May;30(6):854-8. doi: 10.1002/mds.26196. Epub 2015 Mar 15. Citation on PubMed Miyatake S, Osaka H, Shiina ...
- ... 1 syntrophin. Am J Med Genet. 2000 May 15;92(2):122-7. doi: ... locus cause hereditary spastic paraplegia. Am J Hum Genet. 2007 Jan;80(1): ...
- L1 syndrome describes a group of conditions that primarily affect the nervous system and occur almost exclusively in males. These conditions vary in severity ...