Results 1 -
10
of
12
for
Hereditary spastic paraplegia 7
- ... Testing Registry: Hereditary spastic paraplegia Genetic Testing Registry: Hereditary spastic paraplegia 7 Hereditary spastic paraplegia National Organization for Rare Disorders ( ...
- ... RD. Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin. Nature. 2008 Jan 17;451(7176):363-7. doi: 10.1038/nature06482. Citation on PubMed or ...
- ... j.pharmthera.2005.06.001. Epub 2005 Jul 7. Citation on PubMed
- ... Bassi MT. 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.1399-0004.2011.01624. ...
- ... Troyer syndrome Autosomal recessive spastic paraplegia type 20 Hereditary ... a combination of central brain abnormality and motor neuron disease? J Neurol. 1999 Jul;246(7):556-61. doi: 10.1007/s004150050403. Citation on ...
- ... genotype-phenotype correlation. Brain. 2014 Jul;137(Pt 7):1921-30. doi: ... complicated hereditary spastic paraplegia. Mov Disord. 2015 May;30(6):854-8. ...
- ... tract features. Eur J Neurol. 2012 Jul;19(7):992-8. doi: ... hereditary spastic paraplegia with onset before age 10 years. Neurology. 2006 ...
- ... Med Genet. 2000 May 15;92(2):122-7. doi: ... SPG8 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 ...
- ... 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 ...