A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy

Piard, Juliette; Umanah, George K Essien; Harms, Frederike L; Abalde-Atristain, Leire; Amram, Daniel; Chang, Melissa; Chen, Rong; Alawi, Malik; Salpietro, Vincenzo; Rees, Mark I; Chung, Seo-Kyung; Houlden, Henry; Verloes, Alain; Dawson, Ted M; Dawson, Valina L; Van Maldergem, Lionel; Kutsche, Kerstin

期刊名称Brain
作者Piard, Juliette; Umanah, George K Essien; Harms, Frederike L; Abalde-Atristain, Leire; Amram, Daniel; Chang, Melissa; Chen, Rong; Alawi, Malik; Salpietro, Vincenzo; Rees, Mark I; Chung, Seo-Kyung; Houlden, Henry; Verloes, Alain; Dawson, Ted M; Dawson, Valina L; Van Maldergem, Lionel; Kutsche, Kerstin
印刷ISSN0006-8950
电子ISSN1460-2156
文件大小898.85KB
发表时间2018-01-30
DOI10.1093/brain/awx377

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A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy