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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MARC
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001 | HST3808 | ||
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006 | m c | ||
007 | cr|cna|||a|||| | ||
007 | vz|czazum | ||
008 | 141027s2014 enk|||||||||||s|||v|eng d | ||
028 | 5 | 0 | |a 3808 |b Henry Stewart Talks |
035 | |a (UkLoHST)2878 | ||
040 | |a UkLoHST |b eng |c UkLoHST | ||
100 | 1 | |a Giunti, Paola, |u (University College London, UK) |4 spk |9 103602 | |
245 | 1 | 4 | |a The inherited ataxias |h [electronic resource] / |c Paola Giunti. |
260 | |a London : |b Henry Stewart Talks, |c 2014. | ||
300 | |a 1 online resource (1 streaming video file (39 min.) : |b color, sound). | ||
490 | 1 | |a The genetic basis of neurological disorders, |x 2056-452X | |
500 | |a Animated audio-visual presentation with synchronized narration. | ||
500 | |a Title from title frames. | ||
505 | 0 | |a 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. | |
506 | |a Access restricted to subscribers. | ||
538 | |a Mode of access: World Wide Web. | ||
650 | 0 | |a Ataxia |x Genetic aspects. |9 103603 | |
650 | 0 | |a Genetic disorders. |9 103604 | |
650 | 2 | |a Ataxia |x genetics. |9 103605 | |
650 | 2 | |a Cerebellar Ataxia. |9 103606 | |
650 | 2 | |a Epigenesis, Genetic. |9 103607 | |
650 | 2 | |a Friedreich Ataxia. |9 103608 | |
650 | 2 | |a Spinocerebellar Ataxias. |9 103609 | |
830 | 0 | |a Henry Stewart talks. |p Biomedical & life sciences collection. |p Genetic basis of neurological disorders. |9 103610 | |
856 | 4 | 0 | |u https://hstalks.com/bs/2878/ |
856 | 4 | 2 | |u https://hstalks.com/bs/p/908/ |3 Series |
999 | |c 215051 |d 215050 |