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The inherited ataxias / Paola Giunti.
- Format:
- Video
- Author/Creator:
- Giunti, Paola, (University College London, UK), speaker, author.
- Series:
- Henry Stewart talks. Biomedical & life sciences collection. Genetic basis of neurological disorders.
- The genetic basis of neurological disorders, 2056-452X
- Language:
- English
- Subjects (All):
- Ataxia--Genetic aspects.
- Ataxia.
- Genetic disorders.
- Ataxia--genetics.
- Cerebellar Ataxia.
- Epigenesis, Genetic.
- Friedreich Ataxia.
- Spinocerebellar Ataxias.
- Medical Subjects:
- Ataxia--genetics.
- Cerebellar Ataxia.
- Epigenesis, Genetic.
- Friedreich Ataxia.
- Spinocerebellar Ataxias.
- Genre:
- Video recordings.
- Physical Description:
- 1 online resource (1 streaming video file (39 min.)) : color, sound.
- polychrome
- Place of Publication:
- London : Henry Stewart Talks, 2014.
- System Details:
- Mode of access: World Wide Web.
- video file
- 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.
- Notes:
- Animated audio-visual presentation with synchronized narration.
- Title from title frames.
- Publisher Number:
- 3808 Henry Stewart Talks
- Access Restriction:
- Restricted for use by site license.
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