• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

Transient swelling in the globus pallidus and substantia nigra in childhood suggests SENDA/BPAN.

作者信息

Ishiyama Akihiko, Kimura Yukio, Iida Aritoshi, Saito Yoshihiko, Miyamoto Yusaku, Okada Mari, Sato Noriko, Nishino Ichizo, Sasaki Masayuki

机构信息

From the National Center Hospital (A. Ishiyama, Y.K., Y.S., N.S., M.S.); National Institute of Neuroscience (A. Ishiyama, I.N.); Medical Genome Center (A. Iida, I.N.), National Center of Neurology and Psychiatry, Tokyo; Kawasaki Municipal Tama Hospital (Y.M.), St. Marianna University School of Medicine, Kanagawa; and Japanese Red Cross Musashino Hospital (M.O.), Tokyo, Japan.

出版信息

Neurology. 2018 May 22;90(21):974-976. doi: 10.1212/WNL.0000000000005564. Epub 2018 Apr 25.

DOI:10.1212/WNL.0000000000005564
PMID:29695595
Abstract
摘要

相似文献

1
Transient swelling in the globus pallidus and substantia nigra in childhood suggests SENDA/BPAN.儿童期苍白球和黑质的短暂肿胀提示SENDA/BPAN。
Neurology. 2018 May 22;90(21):974-976. doi: 10.1212/WNL.0000000000005564. Epub 2018 Apr 25.
2
Early manifestations of BPAN in a pediatric patient.一名儿科患者中BPAN的早期表现。
Am J Med Genet A. 2014 Dec;164A(12):3095-9. doi: 10.1002/ajmg.a.36779. Epub 2014 Sep 26.
3
[De novo mutations in the autophagy gene WDR45 cause SENDA/BPAN].自噬基因WDR45中的新生突变导致SENDA/BPAN
No To Hattatsu. 2016 May;48(3):177-83.
4
Clinical and Imaging Presentation of a Patient with Beta-Propeller Protein-Associated Neurodegeneration, a Rare and Sporadic form of Neurodegeneration with Brain Iron Accumulation (NBIA).一名患有β-螺旋桨蛋白相关神经退行性变(一种罕见的散发性脑铁沉积神经退行性变(NBIA)形式)患者的临床和影像学表现
Clin Neuroradiol. 2017 Dec;27(4):481-483. doi: 10.1007/s00062-017-0605-9. Epub 2017 Jun 22.
5
Basal ganglia calcification in a case of PKAN.苍白球黑质红核色素变性病例中的基底节钙化。
Parkinsonism Relat Disord. 2017 Mar;36:98-99. doi: 10.1016/j.parkreldis.2016.12.016. Epub 2016 Dec 21.
6
Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.神经元特异性烯醇化酶升高及磁敏感加权成像上的脑铁沉积作为幼儿期β-螺旋桨蛋白相关神经变性的诊断线索:附加病例报告及文献复习
Am J Med Genet A. 2016 Feb;170A(2):322-328. doi: 10.1002/ajmg.a.37432. Epub 2015 Oct 20.
7
Retrospective analysis of 17 patients with mitochondrial membrane protein-associated neurodegeneration diagnosed in Russia.对在俄罗斯诊断出的17例线粒体膜蛋白相关神经退行性变患者的回顾性分析。
Parkinsonism Relat Disord. 2021 Mar;84:98-104. doi: 10.1016/j.parkreldis.2021.02.002. Epub 2021 Feb 9.
8
Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a Young Female With Mild Cognitive Delay.一名轻度认知延迟年轻女性中的新型WDR45突变及典型BPAN影像学表现
Pediatrics. 2015 Sep;136(3):e714-7. doi: 10.1542/peds.2015-0750. Epub 2015 Aug 3.
9
Beta Propellar Protein-Associated Neurodegeneration: A Rare Cause of Infantile Autistic Regression and Intracranial Calcification.β-螺旋桨蛋白相关神经退行性变:婴儿期自闭症退行和颅内钙化的罕见病因。
Neuropediatrics. 2016 Apr;47(2):123-7. doi: 10.1055/s-0035-1571189. Epub 2016 Feb 9.
10
Neuroferritinopathy.神经铁蛋白病。
Int Rev Neurobiol. 2013;110:91-123. doi: 10.1016/B978-0-12-410502-7.00006-5.

引用本文的文献

1
, one gene associated with multiple neurodevelopmental disorders.与多种神经发育障碍相关的一个基因。
Autophagy. 2021 Dec;17(12):3908-3923. doi: 10.1080/15548627.2021.1899669. Epub 2021 Apr 12.
2
Quantitative susceptibility mapping (QSM) evaluation of infantile neuroaxonal dystrophy.婴儿神经轴索性营养不良的定量磁化率成像(QSM)评估
BJR Case Rep. 2019 Feb 21;5(2):20180078. doi: 10.1259/bjrcr.20180078. eCollection 2019 Jun.
3
Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β-Propeller Protein-Associated Neurodegeneration.
黑质肿胀和齿状核T2高信号可能是β-螺旋桨蛋白相关神经变性的早期磁共振成像征象。
Mov Disord Clin Pract. 2018 Nov 9;6(1):51-56. doi: 10.1002/mdc3.12693. eCollection 2019 Jan.