Die hereditäre benigne Chorea ist eine autosomal dominante Erkrankung, die durch Mutationen im NKX2-1-Gen hervorgerufen wird.
1. |
Kleiner-Fisman G et al. (2003) Benign hereditary chorea: clinical, genetic, and pathological findings. |
2. |
Breedveld GJ et al. (2002) Clinical and genetic heterogeneity in benign hereditary chorea. |
3. |
Fernandez M et al. (2001) Hereditary benign chorea: clinical and genetic features of a distinct disease. |
4. |
de Vries BB et al. (2000) Benign hereditary chorea of early onset maps to chromosome 14q. |
5. |
MacMillan JC et al. (1993) Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea. |
6. |
Yapijakis C et al. (1995) Exclusion mapping of the benign hereditary chorea gene from the Huntington's disease locus: report of a family. |
7. |
Chun RW et al. (1973) Benign familial chorea with onset in childhood. |
8. |
Haerer AF et al. (1967) Hereditary nonprogressive chorea of early onset. |
9. |
Pincus JH et al. (1967) Familial benign chorea with intention tremor: a clinical entity. |
10. |
Robinson RO et al. (1985) Benign hereditary chorea--response to steroids. |
11. |
Stapert JL et al. (1985) Benign (nonparoxysmal) familial chorea of early onset: an electroneurophysiological examination of two families. |
12. |
Schady W et al. (1988) Hereditary progressive chorea without dementia. |
13. |
Quarrell OW et al. (1988) Absence of close linkage between benign hereditary chorea and the locus D4S10 (probe G8). |
14. |
Bird TD et al. (1976) Familial essential ("benign") chorea. |
15. |
None (1978) Benign hereditary chorea. Clinical and genetic aspects. |
16. |
Behan PO et al. (1977) Hereditary chorea without dementia. |
17. |
Breedveld GJ et al. (2002) Mutations in TITF-1 are associated with benign hereditary chorea. |
18. |
OMIM.ORG article Omim 118700 |