The inherited ataxias [electronic resource] / Paola Giunti.
Material type:
FilmSeries: Henry Stewart talksBiomedical & life sciences collection. Genetic basis of neurological disorders: Publisher: London : Henry Stewart Talks, 2014Description: 1 online resource (1 streaming video file (39 min.) : color, sound)Subject(s): Ataxia -- Genetic aspects | Genetic disorders | Ataxia -- genetics | Cerebellar Ataxia | Epigenesis, Genetic | Friedreich Ataxia | Spinocerebellar AtaxiasOnline resources: Click here to access online | Series Animated audio-visual presentation with synchronized narration.
Title from title frames.
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.
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Mode of access: World Wide Web.