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本文引用的文献
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The Clinical Spectrum of Ataxia with Oculomotor Apraxia Type 2.
Mov Disord Clin Pract. 2014 May 27;1(2):106-109. doi: 10.1002/mdc3.12021. eCollection 2014 Jun.
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APOE ε4 is also required in TREM2 R47H variant carriers for Alzheimer's disease to develop.
Neuropathol Appl Neurobiol. 2019 Feb;45(2):183-186. doi: 10.1111/nan.12474. Epub 2018 Mar 1.
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Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein.
Sci Rep. 2017 Nov 10;7(1):15284. doi: 10.1038/s41598-017-15127-9.
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Senataxin: Genome Guardian at the Interface of Transcription and Neurodegeneration.
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Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
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A method and server for predicting damaging missense mutations.
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Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
Brain. 2009 Oct;132(Pt 10):2688-98. doi: 10.1093/brain/awp211. Epub 2009 Aug 20.
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Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
Nat Genet. 2004 Mar;36(3):225-7. doi: 10.1038/ng1303. Epub 2004 Feb 8.
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