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

The hereditary spastic paraplegias (HSPs) are a genetically and clinically heterogeneous group of upper-motor-neuron degenerative diseases characterized by selective axonal loss in the corticospinal tracts and dorsal columns. Although numerous mechanisms involving defective subcellular transportatio...

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Detalhes bibliográficos
Main Authors: Tsaousidou, Maria K., Ouahchi, Karim, Warner, Tom T., Yang, Yi, Simpson, Michael A., Laing, Nigel G., Wilkinson, Philip A., Madrid, Ricardo E., Patel, Heema, Hentati, Faycal, Patton, Michael A., Hentati, Afif, Lamont, Philippa J., Siddique, Teepu, Crosby, Andrew H.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2008
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2426914/
https://ncbi.nlm.nih.gov/pubmed/18252231
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2007.10.001
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