The Endless Expansion of the Phenotypic Spectrum of Mutations: A True Diagnostic Challenge.
作者信息
Mencacci Niccolò E
机构信息
Department of Molecular Neuroscience University College London Institute of Neurology London United Kingdom.
出版信息
Mov Disord Clin Pract. 2016 May 9;3(4):395-397. doi: 10.1002/mdc3.12358. eCollection 2016 Jul-Aug.
Abstract
摘要
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本文引用的文献
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Beyond Dystonia-Parkinsonism: Chorea and Ataxia with ATP1A3 Mutations.超越肌张力障碍-帕金森综合征：伴有ATP1A3突变的舞蹈症和共济失调
Mov Disord Clin Pract. 2016 Jan 29;3(4):402-404. doi: 10.1002/mdc3.12317. eCollection 2016 Jul-Aug.
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Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations.ATP1A3突变的中间表型：表型-基因型相关性
Tremor Other Hyperkinet Mov (N Y). 2015 Sep 16;5:336. doi: 10.7916/D8MG7NS8. eCollection 2015.
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5
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.与ATP1A3突变相关的复发性脑病伴小脑共济失调
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Brain. 2015 Oct;138(Pt 10):2859-74. doi: 10.1093/brain/awv243. Epub 2015 Aug 21.
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Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome.儿童交替性偏瘫与CAPOS综合征的表型重叠。
Neurology. 2014 Aug 26;83(9):861-3. doi: 10.1212/WNL.0000000000000735. Epub 2014 Jul 23.
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Distinct neurological disorders with ATP1A3 mutations.ATP1A3 突变相关的不同神经障碍。
Lancet Neurol. 2014 May;13(5):503-14. doi: 10.1016/S1474-4422(14)70011-0.
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A novel ATP1A3 mutation with unique clinical presentation.一种具有独特临床表现的新型ATP1A3突变。
J Neurol Sci. 2014 Jun 15;341(1-2):133-5. doi: 10.1016/j.jns.2014.03.034. Epub 2014 Mar 25.
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