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Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.

作者信息

Mademan Inès, Harmuth Florian, Giordano Ilaria, Timmann Dagmar, Magri Stefania, Deconinck Tine, Claaßen Jens, Jokisch Daniel, Genc Gencer, Di Bella Daniela, Romito Silvia, Schüle Rebecca, Züchner Stephan, Taroni Franco, Klockgether Thomas, Schöls Ludger, De Jonghe Peter, Bauer Peter, Consortium Eoa, Baets Jonathan, Synofzik Matthis

机构信息

1 Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium 2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Belgium.

3 Institute of Medical Genetics and Applied Genomics, University of Tübingen, Germany.

出版信息

Brain. 2016 Aug;139(Pt 8):e46. doi: 10.1093/brain/aww115. Epub 2016 May 19.

DOI:10.1093/brain/aww115
PMID:27197992
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4958896/
Abstract
摘要

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本文引用的文献

1
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.SYNE1共济失调是一种常见的隐性共济失调，具有主要的非小脑特征：一项大型多中心研究
Brain. 2016 May;139(Pt 5):1378-93. doi: 10.1093/brain/aww079. Epub 2016 Apr 17.
2
A general framework for estimating the relative pathogenicity of human genetic variants.一种用于估计人类遗传变异相对致病性的通用框架。
Nat Genet. 2014 Mar;46(3):310-5. doi: 10.1038/ng.2892. Epub 2014 Feb 2.
3
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.PNPLA6 突变导致布歇尔-努厄豪泽综合征和戈登-霍姆斯综合征，属于广泛的神经退行性疾病谱的一部分。
Brain. 2014 Jan;137(Pt 1):69-77. doi: 10.1093/brain/awt326. Epub 2013 Dec 19.
4
Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease.伴有运动神经元病的SYNE1突变型小脑共济失调
Neurology. 2013 Feb 5;80(6):600-1. doi: 10.1212/WNL.0b013e3182815529. Epub 2013 Jan 16.
5
MutationTaster evaluates disease-causing potential of sequence alterations.MutationTaster评估序列改变的致病潜力。
Nat Methods. 2010 Aug;7(8):575-6. doi: 10.1038/nmeth0810-575.
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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.ANNOVAR：从高通量测序数据中注释遗传变异的功能。
Nucleic Acids Res. 2010 Sep;38(16):e164. doi: 10.1093/nar/gkq603. Epub 2010 Jul 3.
7
A method and server for predicting damaging missense mutations.一种预测有害错义突变的方法及服务器。
Nat Methods. 2010 Apr;7(4):248-9. doi: 10.1038/nmeth0410-248.
8
Detection of nonneutral substitution rates on mammalian phylogenies.检测哺乳动物系统发育上的非中性替代率。
Genome Res. 2010 Jan;20(1):110-21. doi: 10.1101/gr.097857.109. Epub 2009 Oct 26.
9
Identification of deleterious mutations within three human genomes.三个人类基因组中有害突变的鉴定。
Genome Res. 2009 Sep;19(9):1553-61. doi: 10.1101/gr.092619.109. Epub 2009 Jul 14.
10
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Bioinformatics. 2009 Jul 15;25(14):1754-60. doi: 10.1093/bioinformatics/btp324. Epub 2009 May 18.