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

The American Journal of Human Genetics - Tập 82 Số 2 - Trang 510-515 - 2008
Maria K. Tsaousidou1, Karim Ouahchi2, Thomas T. Warner3, Yi Yang2, Michael A. Simpson1, Nigel G. Laing4, Philip A. Wilkinson3,1, R. E. Madrid5, Heema Patel1, Fayçal Hentati6, Michael A. Patton1, Afif Hentati7, Philippa Lamont4, Teepu Siddique2,8, Andrew H. Crosby1
1Medical Genetics, Clinical Developmental Sciences, St George's University of London, Cranmer Terrace, London, SW17 0RE, UK
2Davee Department of Neurology and Clinical Neurological Sciences, Northwestern University Feinberg School of Medicine, 303 East Chicago Avenue, Chicago, IL 60611-3008, USA
3Department of Clinical Neurosciences, Institute of Neurology, Rowland Hill Street, London, NW3 2PF, UK
4Centre for Medical Research, University of Western Australia For Medical Research “B” Block, QEII Medical Centre, Nedlands, Western Australia 6009
5George A. Jervis Clinic, NYS Institute for Basic Research in Developmental Disabilities 1050 Forest Hill Road, Staten Island, NY 10314-6399, USA
6Institut National de Neurologie, La Rabta- 1007. Tunis, Tunisia
7Department of Neurology, Burch Building, Suite 310, Evanston Northwestern Healthcare, 2650 Ridge Avenue, Evanston, IL 60201, USA
8Department of Cell and Cell and Molecular Biology, Northwestern University Feinberg School of Medicine, 303 East Chicago Avenue, Chicago, IL 60611-3008, USA

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