Exploring the Pathogenicity of SETX I1942T Variant in Ataxia with Oculomotor Apraxia Type 2 Through Segregation Analysis.
作者信息
Ros-Arlanzón Pablo, Serrano-Serrano Blanca, Aledo-Sala Carlos, Guevara-Dalrymple Natasha, Martí-Martínez Silvia
机构信息
Department of Neurology, Dr. Balmis General University Hospital, Alicante, Spain.
Alicante Institute for Health and Biomedical Research (ISABIAL), Alicante, Spain.
出版信息
Mov Disord Clin Pract. 2024 Aug;11(8):1041-1043. doi: 10.1002/mdc3.14128. Epub 2024 May 31.
Abstract
摘要
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NGS in Hereditary Ataxia: When Rare Becomes Frequent.遗传性共济失调中的 NGS：从罕见变为常见。
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Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.对来自法国阿尔萨斯地区的 102 名常染色体隐性进行性小脑共济失调患者的流行病学、临床、辅助检查和分子研究：对临床管理的影响。
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Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.Senataxin是酵母RNA解旋酶的直系同源物，在2型共济失调性眼肌失用症中发生突变。
Nat Genet. 2004 Mar;36(3):225-7. doi: 10.1038/ng1303. Epub 2004 Feb 8.
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