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Sarah A. Cumming

university of glasgow
H指数:24
被引数:2,073

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Antisense oligonucleotide-mediated MSH3 suppression reduces somatic CAG repeat expansion in Huntington's disease iPSC-derived striatal neurons

反义寡核苷酸介导的MSH3抑制可减少亨廷顿病iPSC来源纹状体神经元中的体细胞CAG重复扩展

2025-02-121
PRE
A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype

一个DM1家族,其中断与非典型症状和晚发相关,但表型较轻

2019-11-0422
OAAI
A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes

谷氨酰胺编码DNA序列结构、体细胞CAG扩增和DNA修复基因变异与亨廷顿病临床结局的遗传关联研究

2019-10-01107
OAAI
MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1
BRAIN
IF11.7
2019-06-19103
OAAI
Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial
2018-08-0180
OAAI
De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1
2018-07-0274
OAAI