Evidence for Cholinergic Dysfunction in Autosomal Dominant Kufs Disease.

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作者： Pamela,Jarrett ^[1] ; Alexander,Easton ^[2] ; Kenneth,Rockwood ^[3] ; Sarah,Dyack ^[4] ; Alexander,McCollum ^[1] ; Victoria,Siu ^[5] ; Seyed M,Mirsattari ^[6] ; Andreu,Massot-Tarrús ^[5] ; M Jill,Beis ^[4] ; Nolan,D'Souza ^[5] ; Sultan,Darvesh ^[3]

作者单位： 1Department of Geriatric Medicine,Horizon Health Network,Saint John,New Brunswick,Canada. ^[1] 2Department of Pathology,Dalhousie University,Halifax,Nova Scotia,Canada. ^[2] 3Department of Medicine (Geriatric Medicine and Neurology),Dalhousie University,Halifax,Nova Scotia,Canada. ^[3] 4Maritime Medical Genetic Services,IWK Health Center,Halifax,Nova Scotia,Canada. ^[4] 5London Health Sciences Centre,London,Ontario,Canada. ^[5] 6Department of Clinical Neurological Sciences,Western University,London,Ontario,Canada. ^[6]

关键词 DNAJC5 acetylcholinesterase autosomal dominant Kufs disease choline acetyltransferase

主题词成年人(Adult);大脑皮质(Cerebral Cortex);胆碱O-乙酰转移酶(Choline O-Acetyltransferase);认知障碍(Cognition Disorders);家庭卫生(Family Health);女(雌)性(Female);HSP40热休克蛋白质类(HSP40 Heat-Shock Proteins);人类(Humans);男(雄)性(Male);膜蛋白质类(Membrane Proteins);中年人(Middle Aged);突变(Mutation);肌阵挛(Myoclonus);神经元蜡样质脂褐质沉积病(Neuronal Ceroid-Lipofuscinoses);神经元(Neurons);系谱(Pedigree);发作(Seizures)

DOI 10.1017/cjn.2017.261

PMID 29506599

发布时间 2019-03-01

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The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

2018年45卷2期

150-157页

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Evidence for Cholinergic Dysfunction in Autosomal Dominant Kufs Disease.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

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The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

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Evidence for Cholinergic Dysfunction in Autosomal Dominant Kufs Disease.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

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The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

相关期刊

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