Herediter Ataksiler
Öz
Anahtar Kelimeler
Herediter, ataksi, otozomal dominant, otozomal resesif, X&apos,e bağlı, klinik ve genetik özellikler
Kaynakça
- 1. Klockgether T. Ataxias. In Goetz C, Textbook of Clinical Neurology. 3rd ed, New York: Saunders, 2007; Chapter 35,765-780.
- 2. Saner N, Başak AN. Heterojen Bir Hastalık Grubu: Spinoserebellar ataksiler, Genetik Yapıları ve Moleküler Tanıları. Türk Nöroloji Dergisi 2006; 12: 185-194.
- 3. Bird TD. Hereditary Ataxia overview. Erişim. http://www.geneclinics.org
- 4. Gomez CM, Subramony SH. Dominantly Inherited Ataxias. Seminars in Pediatric Neurology 2003; 10: 210-222.
- 5. http://neuromuscular.wustl.edu/ ataxia 22 Ocak 2010 6. Bradley WG, Daraff RB, Fenichel GM, Jankoviz J. (Eds). Neurology in Clinical Practice . Chapter 75. 5th ed. Philadelphia: Butterworth-Heinemann 2008; 76: 2123-2145.
- 7. Gros-Louis F, Dupré N, Dion P, Fox MA, et al. Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nat Genet 2007; 39: 80-85.
- 8. Dupre N, Gros-Louis F, Chrestian N, et al. A. Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. Ann Neurol 2007;62:93-98.
- 9. Lagier-Tourenne C, Tazir M, Lopez LC, et al. ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q(10) deficiency. Am J Hum Genet 2008; 82: 661-672.
- 10. Mollet J, Delahodde A, Serre V, et al. CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet 2008; 82: 623-630.
- 11. Gueven N, Becherel OJ, Kijas A, et al. Aprataxin, a novel protein that protects against genotoxic stress. Hum Molec Genet 2004; 13: 1081-1093.
