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

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

doi:10.1093/brain/awx377

Journal article 875 views 201 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

Published in:	BRAIN
ISSN:	0006-8950 1460-2156
Published:	2018
Online Access:	Check full text
URI:	https://cronfa.swan.ac.uk/Record/cronfa37407
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first_indexed	2017-12-12T13:49:51Z
last_indexed	2018-07-20T19:31:47Z
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recordtype	SURis
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spelling	2018-07-20T13:47:10.3086214 v2 37407 2017-12-11 A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy 10f39a4e9c2ee00d453cd84c10667ac8 Mark Rees Mark Rees true false d99cbf3a557e9ee66556dfd95d66a5d8 0000-0002-5008-8384 Seo-Kyung Chung Seo-Kyung Chung true false 2017-12-11 BMS Journal Article BRAIN 141 3 651 661 0006-8950 1460-2156 31 3 2018 2018-03-31 10.1093/brain/awx377 COLLEGE NANME Biomedical Sciences COLLEGE CODE BMS Swansea University 2018-07-20T13:47:10.3086214 2017-12-11T17:08:30.4771171 Faculty of Medicine, Health and Life Sciences Swansea University Medical School - Medicine Juliette Piard 1 George K Essien Umanah 2 Frederike L Harms 3 Leire Abalde-Atristain 4 Daniel Amram 5 Melissa Chang 6 Rong Chen 7 Malik Alawi 8 Vincenzo Salpietro 9 Mark Rees 10 Seo-Kyung Chung 0000-0002-5008-8384 11 Henry Houlden 12 Alain Verloes 13 Ted M Dawson 14 Valina L Dawson 15 Lionel Van Maldergem 16 Kerstin Kutsche 17 0037407-21062018165634.pdf BRAINATAD1_22092017revisionohneEN.pdf 2018-06-21T16:56:34.5800000 Output 754824 application/pdf Accepted Manuscript true 2019-01-30T00:00:00.0000000 true eng 0037407-21062018165904.pdf BrainATAD1_Figs.pdf 2018-06-21T16:59:04.1230000 Output 986020 application/pdf Accepted Manuscript true 2019-01-30T00:00:00.0000000 Additional Figures true eng
title	A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy
spellingShingle	A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy Mark Rees Seo-Kyung Chung
title_short	A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy
title_full	A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy
title_fullStr	A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy
title_full_unstemmed	A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy
title_sort	A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy
author_id_str_mv	10f39a4e9c2ee00d453cd84c10667ac8 d99cbf3a557e9ee66556dfd95d66a5d8
author_id_fullname_str_mv	10f39a4e9c2ee00d453cd84c10667ac8_*_Mark Rees d99cbf3a557e9ee66556dfd95d66a5d8_*_Seo-Kyung Chung
author	Mark Rees Seo-Kyung Chung
author2	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
format	Journal article
container_title	BRAIN
container_volume	141
container_issue	3
container_start_page	651
publishDate	2018
institution	Swansea University
issn	0006-8950 1460-2156
doi_str_mv	10.1093/brain/awx377
college_str	Faculty of Medicine, Health and Life Sciences
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hierarchy_top_title	Faculty of Medicine, Health and Life Sciences
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hierarchy_parent_title	Faculty of Medicine, Health and Life Sciences
department_str	Swansea University Medical School - Medicine{{{_:::_}}}Faculty of Medicine, Health and Life Sciences{{{_:::_}}}Swansea University Medical School - Medicine
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published_date	2018-03-31T03:47:07Z
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A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy

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