Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family

Eidhof Ilse; Baets Jonathan; Kamsteeg Erik-Jan; Schenck Annette; van de Warrenburg Bart P.

首页> 外文期刊>Brain: A journal of neurology >Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family

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Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family

机译：答复：纯合GDAP2患者中的函数丧失变异，具有成人发作的小脑共济失调; 新型GDAP2病原体变异导致中国家庭中的常染色体隐性纺丝大脑共济失调

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来源
《Brain: A journal of neurology》 |2020年第6期|共2页
作者
Eidhof Ilse; Baets Jonathan; Kamsteeg Erik-Jan; Schenck Annette; van de Warrenburg Bart P.;
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作者单位

Radboud Univ Nijmegen Med Ctr Donders Inst Brain Cognit &

Behav Dept Human Genet NL-6525 GA;

Univ Antwerp Ctr Mol Neurol B-2610 Antwerp Belgium;

Radboud Univ Nijmegen Med Ctr Donders Inst Brain Cognit &

Behav Dept Human Genet NL-6525 GA;

Radboud Univ Nijmegen Med Ctr Donders Inst Brain Cognit &

Behav Dept Human Genet NL-6525 GA;

Radboud Univ Nijmegen Med Ctr Dept Neurol Donders Inst Brain Cognit &

Behav NL-6525 GC Nijmegen;

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正文语种 eng
中图分类神经病学;
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5. A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia [J] . Breza Marianthi, Bourinaris Thomas, Efthymiou Stephanie, Brain: A journal of neurology . 2020,第Pta6期

机译：具有成人发作小脑共济失调的患者中的纯合GDAP2失去功能损失
6. Autosomal Recessive Spinocerebellar Ataxia Caused by a Novel Homozygous ANO10 Mutation in a Consanguineous Chinese Family [J] . Shi-Lin Yang, Shu-Fen Chen, Yu-Qiong Jiao, Journal of Clinical Neurology . 2020,第2期

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8. A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia [O] . Marianthi Breza, Thomas Bourinaris, Stephanie Efthymiou, 2020

机译：具有成人发作小脑共济失调的患者的纯合GDAP2功能损失变体

Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family

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