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名词信息
中 文 名:
常染色体隐性遗传性共济失调
英 文 名:
autosomal recessive hereditary ataxia
中文又称:
中文曾称:
名词来源:
所属专业:
神经内科
所属类别:
疾病诊断名词
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Pubmed相关的文献
autosomal recessive hereditary ataxia
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The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
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Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
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Clinical features of Friedreich's ataxia: classical and atypical phenotypes.
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Spastic ataxias.
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Handb Clin Neurol. 2018;155:191-203. doi: 10.1016/B978-0-444-64189-2.00012-3.
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Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity.
Aida I, Ozawa T, Fujinaka H, Goto K, Ohta K, Nakajima T.
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Recessive ataxias.
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Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
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Parkinsonism Relat Disord. 2011 Jul;17(6):418-22. doi: 10.1016/j.parkreldis.2011.03.005. Epub 2011 Mar 30.
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Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.
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Int J Mol Sci. 2022 Jan 4;23(1):552. doi: 10.3390/ijms23010552.
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Omaveloxolone: a groundbreaking milestone as the first FDA-approved drug for Friedreich ataxia.
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Trends Mol Med. 2024 Feb;30(2):117-125. doi: 10.1016/j.molmed.2023.12.002. Epub 2024 Jan 24.
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[Diagnostic algorithm for autosomal recessive ataxia].
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Zh Nevrol Psikhiatr Im S S Korsakova. 2019;119(9):74-82. doi: 10.17116/jnevro201911909174.
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