换一批
换一批Novel THAP1 missense variant with incomplete penetrance in a case of generalized young onset dystonia showing good response to deep brain stimulation.
第一单位：
Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA.
作者：
主题词
女(雌)性(Female);人类(Humans);张力失调(Dystonia);核蛋白质类(Nuclear Proteins);深部脑刺激法(Deep Brain Stimulation);外显率(Penetrance);DNA结合蛋白质类(DNA-Binding Proteins);突变(Mutation);凋亡调节蛋白质类(Apoptosis Regulatory Proteins);张力障碍(Dystonic Disorders)
DOI
10.1016/j.parkreldis.2022.10.022
PMID
36323131
发布时间
2023-01-07
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