Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia-Reference-Cited by-同舟云学术

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia

Published:2008-10-15 Issue:2 Volume:10 Page:97-104
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Schüle Rebecca,Brandt Elisabeth,Karle Kathrin N.,Tsaousidou Maria,Klebe Stephan,Klimpe Sven,Auer-Grumbach Michaela,Crosby Andrew H.,Hübner Christian A.,Schöls Ludger,Deufel Thomas,Beetz Christian

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-008-0158-9.pdf

Reference22 articles.

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3. Tsaousidou MK, Ouahchi K, Warner TT, Yang Y, Simpson MA, Laing NG, Wilkinson PA, Madrid RE, Patel H, Hentati F, Patton MA, Hentati A, Lamont PJ, Siddique T, Crosby AH (2008) Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am J Hum Genet 82:510–515, doi: 10.1016/j.ajhg.2007.10.001

4. Hanein S, Martin E, Boukhris A, Byrne P, Goizet C, Hamri A, Benomar A, Lossos A, Denora P, Fernandez J, Elleuch N, Forlani S, Durr A, Feki I, Hutchinson M, Santorelli FM, Mhiri C, Brice A, Stevanin G (2008) Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet 82:992–1002, doi: 10.1016/j.ajhg.2008.03.004

5. Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, De Michele G, Filla A, Cocozza S, Marconi R, Durr A, Fontaine B, Ballabio A (1998) Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93:973–983, doi: 10.1016/S0092-8674(00)81203-9

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