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Emily G. Allen

Institute for Basic Research in Developmental Disabilities
H指数:33
被引数:4,873

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Integrative transcriptome-wide association analyses reveal PRKCG-linked GABAergic dysfunction in Fragile X-associated tremor/ataxia syndrome

整合转录组范围关联分析揭示了脆性X相关震颤/共济失调综合征中与PRKCG相关的GABA能功能障碍

2026-01-080
OAAI
Correspondence on “No association between FMR1 premutation and either ADHD or anxiety in 53,707 women undergoing genetic testing for family planning purposes” by Klausner et al

关于Klausner等人“53,707名因计划生育目的进行基因检测的女性中,FMR1前突变与ADHD或焦虑均无关联”的通信

2025-07-230
PRE
Inferring chromosome segregation error stage and crossover in trisomic disorders with application to Down syndrome

推断三体性遗传病(以唐氏综合征为例)中的染色体分离错误阶段和交换现象

2025-07-090
OAAI
Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation

第五届FMR1前突变国际会议对脆性X前突变相关条件的见解和建议

CELLS
IF5.2
2023-09-2128
OAAI
Expression of expanded GGC repeats within NOTCH2NLC causes behavioral deficits and neurodegeneration in a mouse model of neuronal intranuclear inclusion disease
2022-11-2315
OAAI
Identification of PSMB5 as a genetic modifier of fragile X-associated tremor/ataxia syndrome

鉴定PSMB5作为脆性X相关震颤/共济失调综合征的遗传调节剂

2022-05-266
OAAI