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Hereditary spastic paraplegia 10
- ... A. SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. Neurology. 2006 Jan 10;66(1):112- ... 2006 Apr 15;15(8):1343-53. doi: 10.1093/hmg/ddl054. Epub 2006 Mar 14. Citation on PubMed
- ... novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP). Neurogenetics. 2009 Apr;10(2):105-10. doi: 10.1007/s10048-008- ...
- ... PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4 PubMed Blackstone C. Hereditary spastic paraplegia. Handb Clin Neurol. 2018;148:633-652. doi: 10.1016/B978-0-444-64076-5.00041-7. ...
- ... A clinical and radiological study of a complicated hereditary spastic paraplegia. J Neurol. 2004 Sep;251(9):1105-10. doi: 10.1007/s00415-004-0491-3. Citation ...
- ... a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases. Brain. 2010 Oct;133(10):2920-41. doi: 10.1093/brain/awq222. Epub ...
- ... AH. SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat Genet. 2002 Aug;31(4):347-8. doi: 10.1038/ng937. Epub 2002 Jul 22. Citation on ...
- ... PubMed SPASTIN; SPAST NCBI Gene ClinVar Blackstone C. Hereditary spastic paraplegia. Handb Clin Neurol. 2018;148:633-652. doi: 10.1016/B978-0-444-64076-5.00041-7. ...
- ... genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. Brain. 2004 May;127(Pt 5):973-80. doi: 10.1093/brain/awh125. Epub 2004 Feb 25. Erratum ...
- ... CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. Brain. 2009 Jun;132(Pt 6):1589-600. doi: 10.1093/brain/awp073. Epub 2009 May 12. Citation ...
- ... genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. Brain. 2004 May;127(Pt 5):973-80. doi: 10.1093/brain/awh125. Epub 2004 Feb 25. Erratum ...