Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration
Open Access
- 8 February 2008
- journal article
- research article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 82 (2), 510-515
- https://doi.org/10.1016/j.ajhg.2007.10.001
Abstract
No abstract availableKeywords
This publication has 36 references indexed in Scilit:
- Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical descriptionAmerican Journal Of Medical Genetics Part B-Neuropsychiatric Genetics, 2007
- Correction of Apolipoprotein A-I-mediated Lipid Efflux and High Density Lipoprotein Particle Formation in Human Niemann-Pick Type C Disease FibroblastsPublished by Elsevier BV ,2006
- Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locusneurogenetics, 2003
- Maspardin Is Mutated in Mast Syndrome, a Complicated Form of Hereditary Spastic Paraplegia Associated with DementiaAmerican Journal of Human Genetics, 2003
- Is the Transportation Highway the Right Road for Hereditary Spastic Paraplegia?American Journal of Human Genetics, 2002
- Disruption of the Oxysterol 7α-Hydroxylase Gene in MiceJournal of Biological Chemistry, 2000
- A New Locus for Autosomal Recessive Hereditary Spastic Paraplegia Maps to Chromosome 16q24.3American Journal of Human Genetics, 1998
- Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.Journal of Medical Genetics, 1998
- Disruption of Cholesterol 7α-Hydroxylase Gene in MicePublished by Elsevier BV ,1996
- Linkage of ‘pure’ autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneityHuman Molecular Genetics, 1994