TY  - ADVS
AU  - Rubinsztein,David C.
TI  - Microsatellite and trinucleotide repeat expansion diseases
T2  - Introduction to human genetics and genomics,
PY  - 2020///
CY  - London
PB  - Henry Stewart Talks
KW  - Genetic disorders
KW  - Nervous system
KW  - Degeneration
KW  - Genetic aspects
KW  - Neurogenetics
KW  - Amyotrophic Lateral Sclerosis
KW  - genetics
KW  - C9orf72 Protein
KW  - Fragile X Syndrome
KW  - Friedreich Ataxia
KW  - Frontotemporal Dementia
KW  - Gain of Function Mutation
KW  - Human Genetics
KW  - Huntington Disease
KW  - Microsatellite Repeats
KW  - Myotonic Dystrophy
KW  - Neurodegenerative Diseases
KW  - Trinucleotide Repeat Expansion
N1  - Animated audio-visual presentation with synchronized narration; Title from title frames; 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; Access restricted to subscribers
UR  - https://hstalks.com/bs/4326/
UR  - https://hstalks.com/bs/p/1069/
ER  -