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Treatment Responsiveness of Parkinsonism in Atypical Pantothenate Kinase-Associated Neurodegeneration.

作者信息

Feuerstein Jeanne, Olvera Caroline, Fullard Michelle

机构信息

Department of Neurology University of Colorado School of Medicine Aurora Colorado USA.

Department of Neurology Rocky Mountain Regional VA Medical Center Aurora Colorado USA.

出版信息

Mov Disord Clin Pract. 2020 Sep 29;7(Suppl 3):S71-S73. doi: 10.1002/mdc3.13056. eCollection 2020 Sep.

DOI:10.1002/mdc3.13056
PMID:33015228
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7525193/
Abstract
摘要

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Can J Neurol Sci. 2019 Nov;46(6):782-784. doi: 10.1017/cjn.2019.251.
2
Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans.韩国人中非典型泛酸激酶相关神经退行性变的临床异质性。
J Mov Disord. 2016 Jan;9(1):20-7. doi: 10.14802/jmd.15058. Epub 2016 Jan 25.
3
Phenotypes and genotypes of patients with pantothenate kinase-associated neurodegeneration in Asian and Caucasian populations: 2 cases and literature review.亚洲和白种人群中泛酸激酶相关神经变性患者的表型和基因型：2例病例及文献综述
ScientificWorldJournal. 2013 Nov 19;2013:860539. doi: 10.1155/2013/860539. eCollection 2013.
4
Late onset atypical pantothenate-kinase-associated neurodegeneration.迟发性非典型泛酸激酶相关神经变性
Case Rep Neurol Med. 2013;2013:860201. doi: 10.1155/2013/860201. Epub 2013 Mar 24.
5
Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations.PANK2 基因突变患者中线粒体辅酶 A 缺乏的代谢后果。
Mol Genet Metab. 2012 Mar;105(3):463-71. doi: 10.1016/j.ymgme.2011.12.005. Epub 2011 Dec 14.
6
A Novel PANK2 Mutation in a Patient with Atypical Pantothenate-Kinase-Associated Neurodegeneration Presenting with Adult-Onset Parkinsonism.一个具有非典型泛酸激酶相关神经退行性变的成年发病型帕金森病患者中发现的 PANK2 基因突变。
J Clin Neurol. 2009 Dec;5(4):192-4. doi: 10.3988/jcn.2009.5.4.192. Epub 2009 Dec 31.
7
Novel PANK2 gene mutations in korean patient with pantothenate kinase-associated neurodegeneration presenting unilateral dystonic tremor.患有泛酸激酶相关神经变性并表现为单侧肌张力障碍性震颤的韩国患者中的新型PANK2基因突变。
Mov Disord. 2010 Jan 30;25(2):245-7. doi: 10.1002/mds.22891.
8
Anticholinergic-responsive gait freezing in a patient with pantothenate kinase-associated neurodegeneration.一名泛酸激酶相关神经变性患者的抗胆碱能反应性步态冻结
Mov Disord. 2008 Jan 30;23(2):283-4. doi: 10.1002/mds.21799.
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Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.哈勒沃登-施帕茨综合征的遗传学、临床及影像学特征
N Engl J Med. 2003 Jan 2;348(1):33-40. doi: 10.1056/NEJMoa020817.