Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome
Open Access
- 3 April 2008
- journal article
- research article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 82 (4) , 992-1002
- https://doi.org/10.1016/j.ajhg.2008.03.004
Abstract
No abstract availableKeywords
This publication has 31 references indexed in Scilit:
- Spastic paraplegia 15: Linkage and clinical description of three Tunisian familiesMovement Disorders, 2007
- Maspardin Is Mutated in Mast Syndrome, a Complicated Form of Hereditary Spastic Paraplegia Associated with DementiaAmerican Journal of Human Genetics, 2003
- Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegiasJournal of Medical Genetics, 2003
- Is the Transportation Highway the Right Road for Hereditary Spastic Paraplegia?American Journal of Human Genetics, 2002
- SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegiaNature Genetics, 2002
- The FYVE domain in Smad anchor for receptor activation (SARA) is sufficient for localization of SARA in early endosomes and regulates TGF‐β/Smad signallingGenes to Cells, 2002
- The phosphatidylinositol 3‐phosphate‐binding FYVE fingerFEBS Letters, 2002
- Endofin, an Endosomal FYVE Domain ProteinPublished by Elsevier ,2001
- SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14qNeurology, 2001
- ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORFNature Genetics, 2000