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首页> 外文期刊>Clinical Genetics: An International Journal of Genetics in Medicine >A de novo mutation in the NALCN gene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis

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A de novo mutation in the NALCN gene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis

机译：成年小脑性共济失调与智力障碍和关节软化相关的NALCN基因从头突变

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来源
《Clinical Genetics: An International Journal of Genetics in Medicine》 |2016年第6期|共2页
作者
Wang Y.; Koh K.; Ichinose Y.; Yasumura M.; Ohtsuka T.; Takiyama Y.;
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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
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1. A de novo mutation in the NALCN gene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis [J] . Wang Y., Koh K., Ichinose Y., Clinical Genetics: An International Journal of Genetics in Medicine . 2016,第6期

机译：成年小脑性共济失调与智力障碍和关节软化相关的NALCN基因从头突变
2. First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy [J] . Katrien Smets, Anna Duarri, Tine Deconinck, BMC Medical Genetics . 2015,第1期

机译：从头开始的KCND3突变会导致严重的Kv4.3通道功能障碍，导致小脑共济失调，智力障碍，口腔失用症和癫痫发作
3. De novo mutations in the SET SET nuclear proto‐oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability [J] . Stevens Servi J.C., der Schoot Vyne, Leduc Magalie S., Human mutation . 2018,第7期

机译：设定集合核原癌基因中的DE NOVO突变，编码非合成型智力残疾患者中组蛋白乙酰转移酶（INHAT）复合物的抑制剂的组分
4. Automated Evaluation of Upper Limb Motor Impairment of Patient with Cerebellar Ataxia [C] . Ha Tran, Pubudu N. Pathirana, Malcolm Horne, Annual International Conference of the IEEE Engineering in Medicine and Biology Society . 2019

机译：小脑性共济失调患者上肢运动障碍的自动评估
5. Effects of Myosin Mutations Causing Human Distal Arthrogryposis in the Drosophila Model [D] . Guo, Yiming 2015

机译：果蝇模型中导致人远端关节变态的肌球蛋白突变的影响。
6. First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia intellectual disability oral apraxia and epilepsy [O] . Katrien Smets, Anna Duarri, Tine Deconinck, 2015

机译：首次从头发生KCND3突变会导致严重的Kv4.3通道功能障碍导致小脑共济失调智力障碍口腔失用症和癫痫发作
7. First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy [O] . Katrien Smets, Anna Duarri, Tine Deconinck, 2015

机译：首次从头发生KCND3突变会导致严重的Kv4.3通道功能障碍，导致小脑共济失调，智力障碍，口腔失用症和癫痫发作

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