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