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A Family with Late-Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of Choreas.

作者信息

Rodriguez-Quiroga Sergio, Zavala Lucia, Pérez Maturo Josefina, González-Morón Dolores, Garretto Nelida, Kauffman Marcelo A

机构信息

Department and Laboratory of Neurogenetics Division of Neurology, J. M. Ramos Mejía Hospital, CABA, University Center of Neurology "José María Ramos Mejía", Faculty of Medicine, University of Buenos Aires Buenos Aires Argentina.

Movement Disorders Area, Division of Neurology, J.M. Ramos Mejía Hospital CABA, University Center of Neurology "José María Ramos Mejía", Faculty of Medicine, University of Buenos Aires Buenos Aires Argentina.

出版信息

Mov Disord Clin Pract. 2020 Mar 11;7(3):332-334. doi: 10.1002/mdc3.12920. eCollection 2020 Apr.

DOI:10.1002/mdc3.12920
PMID:32258235
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7111585/
Abstract
摘要

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Huntington's Disease, Huntington's Disease Look-Alikes‎, and Benign Hereditary Chorea: What's New?亨廷顿舞蹈症、类亨廷顿舞蹈症及良性遗传性舞蹈症：有哪些新进展？
Mov Disord Clin Pract. 2016 Jan 27;3(4):342-354. doi: 10.1002/mdc3.12312. eCollection 2016 Jul-Aug.
2
Huntington disease.亨廷顿病
Handb Clin Neurol. 2018;147:255-278. doi: 10.1016/B978-0-444-63233-3.00017-8.
3
Abnormal eye movements in three types of chorea.三种舞蹈病中的异常眼球运动。
Arq Neuropsiquiatr. 2016 Sep;74(9):761-766. doi: 10.1590/0004-282X20160109.
4
Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.采用临床与基因联合分析方法拓展亨廷顿病相关基因谱。
JAMA Neurol. 2016 Sep 1;73(9):1105-14. doi: 10.1001/jamaneurol.2016.2215.
5
Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease.青少年型和成年型尼曼-匹克 C 病的运动障碍异质性和频率。
J Neurol. 2014 Jan;261(1):174-9. doi: 10.1007/s00415-013-7159-9. Epub 2013 Nov 1.
6
Eye movements in patients with neurodegenerative disorders.神经退行性疾病患者的眼球运动。
Nat Rev Neurol. 2013 Feb;9(2):74-85. doi: 10.1038/nrneurol.2012.273. Epub 2013 Jan 22.
7
Vertical supranuclear gaze palsy in Niemann-Pick type C disease.尼曼-匹克 C 型病中的垂直核上性眼球运动障碍。
Neurol Sci. 2012 Dec;33(6):1225-32. doi: 10.1007/s10072-012-1155-1. Epub 2012 Jul 19.
8
Huntington's disease phenocopy syndromes.亨廷顿病表型模拟综合征
Curr Opin Neurol. 2007 Dec;20(6):681-7. doi: 10.1097/WCO.0b013e3282f12074.
9
The adult form of Niemann-Pick disease type C.成人型C型尼曼-匹克病
Brain. 2007 Jan;130(Pt 1):120-33. doi: 10.1093/brain/awl260. Epub 2006 Sep 26.