White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

Giovanni Stévanin, Filippo M. Santorelli, Hamid Azzedine et al. · Nature Genetics · 2007 · 332 citations

Medicine, Neurology, Neuroscience +8

Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration

Maria K. Tsaousidou, Karim Ouahchi, Yi Yang et al. · The American Journal of Human Genetics · 2008 · 186 citations · Full text

Life Sciences, Genetics, Neuroscience +15

Cerebrotendinous Xanthomatosis: The Spectrum of Imaging Findings and the Correlation with Neuropathologic Findings

Frederik Barkhof, Aad Verrips, Pieter Wesseling et al. · Radiology · 2000 · 184 citations

Medicine, Neurology, Radiology +16

Bile acid synthesis from cholesterol: regulatory and auxiliary pathways

Norman B. Javitt · The FASEB Journal · 1994 · 179 citations

Life Sciences, Biochemistry, Cell Biology +17

Maspardin Is Mutated in Mast Syndrome, a Complicated Form of Hereditary Spastic Paraplegia Associated with Dementia

Michael A. Simpson, Christos Proukakis, Anna Pryde et al. · The American Journal of Human Genetics · 2003 · 173 citations · Full text

Medicine, Neurology, Neuroscience +3