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ATXN1: expanding the spectrum of polyglutamine repeats in ALS
Published on Jul 21, 20171381 Views
Objective: Polyglutamine proteins can cause a wide range of neurodegenerative disorders upon long-range expansions such as Huntington’s disease and spinocerebellar ataxia (SCA). Intermediate length
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Chapter list
ATXN1: Expanding the spectrum of polyglutamine repeats in ALS00:00
Polyglutamine & PolyQ diseases00:33
Spinocerebellar ataxias (SCA) & Polyglutamine expansions01:10
ALS & Polyglutamine expansions01:52
Ataxin-2 in ALS02:15
What about other polyQ genes in ALS?02:49
ALS case in Dutch SCA1 family (ATXN1 polyQ)03:10
ALS case in Italian SCA1 family03:32
ATXN1 & ALS in Italian ALS cohort03:47
ATXN2 vs ATXN104:15
Aim(s) of the study - 105:07
Aim(s) of the study - 205:15
Methods - 105:49
Methods - 206:49
Methods - 307:41
ATXN1 & ALS08:02
Association analysis08:48
ATXN1 & Survival after onset09:03
ATXN1 & Age at onset09:18
(Preliminary) Conclusions - Genetics09:41
Discussion10:07
Discussion – The next step11:01
Acknowledgements 11:55
Thank you12:08