Journal article 1060 views 241 downloads
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 ,
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
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DOI (Published version): 10.1093/brain/awx377
Abstract
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy
Published in: | BRAIN |
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ISSN: | 0006-8950 1460-2156 |
Published: |
2018
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Online Access: |
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URI: | https://cronfa.swan.ac.uk/Record/cronfa37407 |
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College: |
Faculty of Medicine, Health and Life Sciences |
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Issue: |
3 |
Start Page: |
651 |
End Page: |
661 |