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本文引用的文献

1
Lessons from a pair of siblings with BPAN.一对患有BPAN的兄弟姐妹的经验教训。
Eur J Hum Genet. 2016 Jul;24(7):1095. doi: 10.1038/ejhg.2015.274.
2
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.β- 三联蛋白相关神经退行性疾病:一种伴有脑铁沉积的新的 X 连锁显性遗传病。
Brain. 2013 Jun;136(Pt 6):1708-17. doi: 10.1093/brain/awt095. Epub 2013 May 17.
3
Brain iron takes off: a new propeller protein links neurodegeneration with autophagy.脑铁代谢:一种新的螺旋桨蛋白将神经退行性变与自噬联系起来。
Brain. 2013 Jun;136(Pt 6):1687-91. doi: 10.1093/brain/awt098. Epub 2013 May 14.
4
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.自噬基因 WDR45 中的新生突变导致成年期伴有神经退行性变的儿童静止性脑病。
Nat Genet. 2013 Apr;45(4):445-9, 449e1. doi: 10.1038/ng.2562. Epub 2013 Feb 24.
5
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.外显子组测序揭示 WDR45 突变导致表型不同的 X 连锁显性形式的 NBIA。
Am J Hum Genet. 2012 Dec 7;91(6):1144-9. doi: 10.1016/j.ajhg.2012.10.019. Epub 2012 Nov 21.
6
Neuroimaging features of neurodegeneration with brain iron accumulation.脑铁沉积性神经变性的神经影像学特征。
AJNR Am J Neuroradiol. 2012 Mar;33(3):407-14. doi: 10.3174/ajnr.A2677. Epub 2011 Sep 15.
7
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.

A Case with Beta-Propeller Protein Associated Neurodegeneration with Smooth Response to Levodopa Treatment.

作者信息

Zitser Jennifer, Giladi Nir, Gurevich Tanya

机构信息

Movement Disorders Unit, Neurological Institute Tel-Aviv Medical Center Tel-Aviv Israel.

Sackler Faculty of Medicine Tel-Aviv University Tel-Aviv Israel.

出版信息

Mov Disord Clin Pract. 2018 Mar 23;5(3):327-329. doi: 10.1002/mdc3.12604. eCollection 2018 May-Jun.

DOI:10.1002/mdc3.12604
PMID:30800705
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6336430/
Abstract
摘要