The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy
- 8 March 2005
- journal article
- research article
- Published by Springer Nature in Zeitschrift für Neurologie
- Vol. 252 (8) , 901-903
- https://doi.org/10.1007/s00415-005-0768-1
Abstract
No abstract availableKeywords
This publication has 10 references indexed in Scilit:
- Cellular Localization, Oligomerization, and Membrane Association of the Hereditary Spastic Paraplegia 3A (SPG3A) Protein AtlastinJournal of Biological Chemistry, 2003
- Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutationNeurology, 2003
- Novel mutations in theAtlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to theSPG3A locusHuman Mutation, 2003
- SPG3ANeurology, 2002
- A Kinesin Heavy Chain (KIF5A) Mutation in Hereditary Spastic Paraplegia (SPG10)American Journal of Human Genetics, 2002
- Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegiaAnnals of Neurology, 2002
- Disruption of Dynein/Dynactin Inhibits Axonal Transport in Motor Neurons Causing Late-Onset Progressive DegenerationNeuron, 2002
- Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegiaNature Genetics, 2001
- Charcot-Marie-Tooth Disease Type 2A Caused by Mutation in a Microtubule Motor KIF1BβCell, 2001
- The dynamin family of mechanoenzymes: pinching in new placesTrends in Biochemical Sciences, 2000