Autosomal Dominant Cerebellar Ataxia
Last Posted: May 26, 2007
- Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population.
Wieczorek Stefan, et al. Journal of human genetics 2006 0 (4) 363-7
- Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases.
Wu Y R, et al. Journal of neural transmission (Vienna, Austria : 1996) 2005 4 (4) 539-46
- Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes.
Stevanin Giovanni, et al. Brain : a journal of neurology 2003 7 (Pt 7) 1599-603
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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