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

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

BRAIN, Volume: 141, Issue: 3, Pages: 651 - 661

Swansea University Authors: Mark Rees, Seo-Kyung Chung Orcid Logo

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DOI (Published version): 10.1093/brain/awx377

Published in: BRAIN
ISSN: 0006-8950 1460-2156
Published: 2018
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College: Swansea University Medical School
Issue: 3
Start Page: 651
End Page: 661