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A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia.
Brain ( IF 14.5 ) Pub Date : 2020-05-18 , DOI: 10.1093/brain/awaa120 Marianthi Breza 1 , Thomas Bourinaris 2 , Stephanie Efthymiou 2 , Reza Maroofian 2 , Alkyoni Athanasiou-Fragkouli 2 , John Tzartos 1, 3 , Georgios Velonakis 4 , Efstratios Karavasilis 4 , Georgia Angelopoulou 5 , Dimitrios Kasselimis 5, 6 , Constantin Potagas 5 , Leonidas Stefanis 1 , Georgia Karadima 1 , Georgios Koutsis 1 , Henry Houlden 2
Brain ( IF 14.5 ) Pub Date : 2020-05-18 , DOI: 10.1093/brain/awaa120 Marianthi Breza 1 , Thomas Bourinaris 2 , Stephanie Efthymiou 2 , Reza Maroofian 2 , Alkyoni Athanasiou-Fragkouli 2 , John Tzartos 1, 3 , Georgios Velonakis 4 , Efstratios Karavasilis 4 , Georgia Angelopoulou 5 , Dimitrios Kasselimis 5, 6 , Constantin Potagas 5 , Leonidas Stefanis 1 , Georgia Karadima 1 , Georgios Koutsis 1 , Henry Houlden 2
Affiliation
Sir,
中文翻译：
成人发病小脑性共济失调患者的纯合 GDAP2 功能丧失变异体。
先生，
更新日期：2020-05-18
中文翻译：
成人发病小脑性共济失调患者的纯合 GDAP2 功能丧失变异体。
先生，
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