NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)
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- 1 October 2003
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 73 (4) , 967-971
- https://doi.org/10.1086/378817
Abstract
No abstract availableKeywords
This publication has 15 references indexed in Scilit:
- A Kinesin Heavy Chain (KIF5A) Mutation in Hereditary Spastic Paraplegia (SPG10)American Journal of Human Genetics, 2002
- Hereditary spastic paraplegia: The pace quickensAnnals of Neurology, 2002
- Hereditary Spastic Paraplegia SPG13 Is Associated with a Mutation in the Gene Encoding the Mitochondrial Chaperonin Hsp60American Journal of Human Genetics, 2002
- GCP5 and GCP6: Two New Members of the Human γ-Tubulin ComplexMolecular Biology of the Cell, 2001
- Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegiaNature Genetics, 2001
- Genome Organization, Function, and Imprinting in Prader-Willi and Angelman SyndromesAnnual Review of Genomics and Human Genetics, 2001
- A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2PProceedings of the National Academy of Sciences, 2001
- Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegiaNature Genetics, 1999
- Hereditary Spastic Paraplegia: Genetic Heterogeneity and Genotype-Phenotype CorrelationSeminars in Neurology, 1999
- p140Sra-1 (Specifically Rac1-associated Protein) Is a Novel Specific Target for Rac1 Small GTPaseJournal of Biological Chemistry, 1998