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Tremor Other Hyperkinet Mov (N Y). 2024 Jun 20;14:31. doi: 10.5334/tohm.911. eCollection 2024.
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Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the Gene.遗传性小脑共济失调患者的基因中出现一种新的意义不明变异
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Bayesian Interpretation of Essential Tremor Plus.特发性震颤叠加综合征的贝叶斯解释
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Tremor Syndromes: An Updated Review.震颤综合征:最新综述
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本文引用的文献

1
Familial ataxia, tremor, and dementia in a polish family with a novel mutation in the CCDC88C gene.一个波兰家庭中出现的伴有CCDC88C基因新突变的家族性共济失调、震颤和痴呆。
Mov Disord. 2019 Jan;34(1):142-144. doi: 10.1002/mds.27536. Epub 2018 Nov 6.
2
What is "essential" about essential tremor? A diagnostic placeholder.特发性震颤的“特发性”体现在哪里?一个诊断占位符。
Mov Disord. 2018 Jan;33(1):58-61. doi: 10.1002/mds.27288. Epub 2017 Dec 22.
3
Consensus Statement on the classification of tremors. from the task force on tremor of the International Parkinson and Movement Disorder Society.关于震颤分类的共识声明。来自国际帕金森病和运动障碍学会震颤工作组。
Mov Disord. 2018 Jan;33(1):75-87. doi: 10.1002/mds.27121. Epub 2017 Nov 30.
4
SCA 35 presenting as isolated treatment-resistant dystonic hand tremor.表现为孤立性治疗抵抗性肌张力障碍性手部震颤的脊髓小脑共济失调35型
Parkinsonism Relat Disord. 2017 Apr;37:118-119. doi: 10.1016/j.parkreldis.2017.01.014. Epub 2017 Feb 10.
5
Essential pitfalls in "essential" tremor.“特发性”震颤中的关键陷阱。
Mov Disord. 2017 Mar;32(3):325-331. doi: 10.1002/mds.26919. Epub 2017 Jan 24.
6
Diagnosis and Management of Tremor.震颤的诊断与管理
Continuum (Minneap Minn). 2016 Aug;22(4 Movement Disorders):1143-58. doi: 10.1212/CON.0000000000000346.
7
Spinocerebellar ataxia: relationship between phenotype and genotype - a review.脊髓小脑共济失调:表型与基因型的关系——综述
Clin Genet. 2016 Oct;90(4):305-14. doi: 10.1111/cge.12808. Epub 2016 Jun 30.
8
A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia.CCDC88C基因中的一种新型错义突变激活JNK信号通路并导致显性遗传性脊髓小脑共济失调。
J Med Genet. 2014 Sep;51(9):590-5. doi: 10.1136/jmedgenet-2014-102333. Epub 2014 Jul 25.

Spinocerebellar Ataxia 40: Another Etiology Underlying Essential Tremor Syndrome.

作者信息

Emamikhah Maziar, Aghavali Sharmin, Moghadas Fatemeh, Munhoz Renato P, Lang Anthony E, Alavi Afagh, Rohani Mohammad

机构信息

Department of Neurology Rasool-e Akram Hospital, Iran University of Medical Sciences Tehran Iran.

The Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital and Division of Neurology University of Toronto Toronto Ontario Canada.

出版信息

Mov Disord Clin Pract. 2021 May 25;8(6):944-946. doi: 10.1002/mdc3.13251. eCollection 2021 Aug.

DOI:10.1002/mdc3.13251
PMID:34405102
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8354075/
Abstract
摘要