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Spastic paraplegia 1
- ... the aqueduct of Sylvius (HSAS), MASA syndrome, spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.HSAS ... may have mild enlargement of the ventricles.Spastic paraplegia type 1 is characterized by progressive muscle stiffness (spasticity) and ...
- ... M. Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. Am J Med Genet. 2000 May 15; ... gene at the SPG8 locus cause hereditary spastic paraplegia. Am J Hum Genet. 2007 Jan;80(1):152-61. doi: 10.1086/510782. Epub 2006 ...
- ... adhesion regulator CMAR FLJ37308 MGC126331 MGC126332 paraplegin, isoform 1 PGN spastic paraplegia 7 spastic paraplegia 7 (pure and complicated autosomal ...
- ... inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics. 2005 Feb;6(1):1-16. doi: 10.1007/s10048-004-0207- ...
- ... M. Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. Am J Med Genet. 2000 May 15; ... gene at the SPG8 locus cause hereditary spastic paraplegia. Am J Hum Genet. 2007 Jan;80(1):152-61. doi: 10.1086/510782. Epub 2006 ...
- ... inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics. 2005 Feb;6(1):1-16. doi: 10.1007/s10048-004-0207- ...
- ... phenotype associated with homozygous GRN mutations: complicated spastic paraplegia. Eur J Neurol. 2017 Jan;24(1):e3-e4. doi: 10.1111/ene.13194. No ...
- Traumatic Spinal Cord Injury Facts and Figures at a Glance (University of Alabama at Birmingham) - PDFSpinal Cord Injuries/Statistics and Research ... Spinal Cord Injuries ... University of Alabama at Birmingham ... PDF
- ... childhood. Most of the mutations that cause spastic paraplegia type 3A change one protein building block (amino acid) in the atlastin-1 protein. These mutations likely lead to abnormal activity ...
- ... 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. ...