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Author Rubinsztein, D. C. (David C.),

Title Microsatellite and trinucleotide repeat expansion diseases / David C. Rubinsztein
Published London : Henry Stewart Talks, 2020
Online access available from:
HSTalks Biomedical & Life Sciences Collection    View Resource Record  

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Description 1 online resource (1 streaming video file (30 min.) : color, sound)
Series Introduction to human genetics and genomics, 2056-452X
Henry Stewart talks. Biomedical & life sciences collection. Introduction to human genetics and genomics
Contents Contents: Mendelian neurodegenerative diseases are caused by repeat expansions -- The mutation can result in gain-of-function or loss-of-function -- Fragile X syndrome -- Myotonic dystrophy -- Huntington's disease -- Friedrich's ataxia -- C9orf72
Notes Animated audio-visual presentation with synchronized narration
Title from title frames
Restricted Access restricted to subscribers
Notes Mode of access: World Wide Web
Subject Genetic disorders.
Nervous system -- Degeneration -- Genetic aspects
Neurogenetics.
Amyotrophic Lateral Sclerosis -- genetics.
C9orf72 Protein.
Fragile X Syndrome -- genetics.
Friedreich Ataxia -- genetics.
Frontotemporal Dementia -- genetics.
Gain of Function Mutation.
Human Genetics.
Huntington Disease -- genetics.
Microsatellite Repeats.
Myotonic Dystrophy -- genetics.
Neurodegenerative Diseases -- genetics.
Trinucleotide Repeat Expansion.
Form Streaming video