KIF1C Variants Are Associated with Hypomyelination Ataxia Tremor and Dystonia in Fraternal Twins

机译：KIF1C变体与异卵双胞胎的低髓鞘化共济失调震颤和肌张力障碍相关

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BackgroundKIF1C (Kinesin Family Member 1C) variants have been associated with hereditary spastic paraplegia and spastic ataxia.

机译：背景KIF1C（动力蛋白家族成员1C）变体与遗传性痉挛性截瘫和痉挛性共济失调相关。

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期刊名称 Tremor and Other Hyperkinetic Movements
作者
Enrica Marchionni; Aurélie Méneret; Boris Keren; Judith Melki; Christian Denier; Alexandra Durr; Emmanuelle Apartis; Odile Boespflug-Tanguy; Fanny Mochel;
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作者单位

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年(卷),期 2019(9),-1
年度 2019
页码 641
总页数 4
原文格式 PDF
正文语种
中图分类 G804.5;
关键词
KIF1C dystonic tremor cerebellar ataxia hypomyelinating leukoencephalopathy;

机译：KIF1C;肌张力性震颤;小脑性共济失调;髓鞘减少性白质脑病;

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专利

1. Tremor-ataxia with central hypomyelination (TACH): Dystonia as a new clinical feature [J] . OstermanB., SylvainM., ChouinardS., Movement disorders . 2012,第14期

机译：震颤共济失调伴中央性髓鞘减少（TACH）：肌张力障碍是一种新的临床特征
2. Tremor-ataxia with central hypomyelination (TACH): Dystonia as a new clinical feature [J] . OstermanB., SylvainM., ChouinardS., Movement disorders . 2012,第14期

机译：震颤与中枢性低聚（TACH）：Dystonia作为新的临床特征
3. Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia. [J] . Foncke EM, Beukers RJ, Tijssen CC, Parkinsonism & related disorders . 2010,第4期

机译：肌阵挛性肌张力障碍和脊髓小脑共济失调14型表现出类似的表型：躯干震颤，肌阵挛和肌张力障碍。
4. Variant selection of twins with low Schmid factors in cross grain boundary twin pairs in a magnesium alloy [C] . Z-Z Shi, YD Zhang, F Wagner International Conference on Textures of Materials . 2015

机译：镁合金中横粒边界双对跨粒度因子的曲折的变体选择
5. Unique Gait, Balance and Tremor Profiles Distinguish Fragile X-associated Tremor/Ataxia Syndrome from Parkinson Disease and Essential Tremor [D] . Robertson-Dick, Erin Elizabeth. 2018

机译：独特的步态，平衡和震颤概况与帕金森病和基本震颤的脆弱的X相关震颤/共济失调综合征区分
6. Tremor–ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3–10q23.31 [O] . Geneviève Bernard, Isabelle Thiffault, Martine Tetreault, -1

机译：震颤与中枢性低聚（TACH）Leukodystrophy地图到染色体10Q22.3-10Q23.31
7. Tremor-ataxia with central hypomyelination (TACH): Dystonia as a new clinical feature [O] . Bradley Osterman, Michel Sylvain, Sylvain Chouinard, 2012

机译：具有中枢性低聚（TACH）：Dystonia作为新临床特征的震颤

KIF1C Variants Are Associated with Hypomyelination Ataxia Tremor and Dystonia in Fraternal Twins

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