Publication:

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5 (2009)

Author(s): Goizet C, Boukhris A, Durr A, Beetz C, Truchetto J, Tesson C, Tsaousidou M, Forlani S, Guyant-Marechal L, Fontaine B, Guimaraes J, Isidor B, Chazouilleres O, Wendum D, Grid D, Chevy F, Chinnery PF, Coutinho P, Azulay JP, Feki I, Mochel F, Wolf C, Mhiri C, Crosby A, Brice A, Stevanin G

      • Date: 12-05-2009
      • Journal: Brain
      • Volume: 132
      • Pages: 1589-1600
      • Publisher: Oxford University Press
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: CYP7B1 SPG5 hereditary spastic paraplegia autosomal recessive spastic paraplegia cholesterol metabolism MOTOR-NEURON DEGENERATION THIN CORPUS-CALLOSUM CEREBROTENDINOUS XANTHOMATOSIS GENE CYP7B1 C DISEASE FREQUENT LOCUS DEHYDROEPIANDROSTERONE IDENTIFICATION HETEROGENEITY

      Staff

      Professor Patrick Chinnery
      Institute Director