The inherited ataxias
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| Other Authors: | |
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| Format: | Electronic Video |
| Language: | English |
| Published: |
London :
Henry Stewart Talks,
2014.
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| Series: | Henry Stewart talks. Biomedical & life sciences collection. Genetic basis of neurological disorders.
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| Subjects: | |
| Online Access: | https://hstalks.com/bs/2878/ Series |
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Table of Contents:
- Contents: Ataxia
- Inherited ataxias
- Autosomal dominant cerebellar ataxias (ADCA)
- ADCA: Clinical classification
- Genetic classification
- ADCA by mutations
- CAGn- age at onset correlation
- Common clinical and genetic features
- Pathogenesis
- Expansion progression
- Anticipation
- Somatic instability / mosaicism
- CAG repeat interruptions in alleles
- Interruption/s in modulating disease pathology?
- SCA1 project overview
- Friedreich's ataxia
- Frataxin protein function
- Epigenetic factors in the pathogenesis of FRDA
- HDAC inhibition in patient with Friedreich's ataxia
- Nicotinamide in patient with Friedreich's ataxia
- Phase II open label trial of nicotinamide.
The inherited ataxias