No Cover Image

Journal article 1267 views 117 downloads

Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation

Jennifer Gardner, Thomas Cushion, Georgios Niotakis, Heather Olson, P. Grant, Richard Scott, Neil Stoodley, Julie Cohen, Sakkubai Naidu, Tania Attie-Bitach, Maryse Bonnières, Lucile Boutaud, Férechté Encha-Razavi, Sheila Palmer-Smith, Hood Mugalaasi, Jonathan Mullins Orcid Logo, Daniela Pilz, Andrew Fry

Brain Sciences, Volume: 8, Issue: 8, Start page: 145

Swansea University Author: Jonathan Mullins Orcid Logo

  • 43598.pdf

    PDF | Version of Record

    Released under the terms of a Creative Commons Attribution (CC-BY) license.

    Download (2.19MB)
Published in: Brain Sciences
ISSN: 2076-3425
Published: 2018
Online Access: Check full text

URI: https://cronfa.swan.ac.uk/Record/cronfa43598
Tags: Add Tag
No Tags, Be the first to tag this record!
first_indexed 2018-08-30T19:37:57Z
last_indexed 2018-08-30T19:37:57Z
id cronfa43598
recordtype SURis
fullrecord <?xml version="1.0"?><rfc1807><datestamp>2018-08-30T16:23:14.6190896</datestamp><bib-version>v2</bib-version><id>43598</id><entry>2018-08-30</entry><title>Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation</title><swanseaauthors><author><sid>4cf2dddedbe1dacb506ec925fdbd5b40</sid><ORCID>0000-0003-0144-2962</ORCID><firstname>Jonathan</firstname><surname>Mullins</surname><name>Jonathan Mullins</name><active>true</active><ethesisStudent>false</ethesisStudent></author></swanseaauthors><date>2018-08-30</date><deptcode>BMS</deptcode><abstract/><type>Journal Article</type><journal>Brain Sciences</journal><volume>8</volume><journalNumber>8</journalNumber><paginationStart>145</paginationStart><publisher/><issnElectronic>2076-3425</issnElectronic><keywords/><publishedDay>7</publishedDay><publishedMonth>8</publishedMonth><publishedYear>2018</publishedYear><publishedDate>2018-08-07</publishedDate><doi>10.3390/brainsci8080145</doi><url/><notes/><college>COLLEGE NANME</college><department>Biomedical Sciences</department><CollegeCode>COLLEGE CODE</CollegeCode><DepartmentCode>BMS</DepartmentCode><institution>Swansea University</institution><apcterm/><lastEdited>2018-08-30T16:23:14.6190896</lastEdited><Created>2018-08-30T16:20:13.8911455</Created><path><level id="1">Faculty of Medicine, Health and Life Sciences</level><level id="2">Swansea University Medical School - Medicine</level></path><authors><author><firstname>Jennifer</firstname><surname>Gardner</surname><order>1</order></author><author><firstname>Thomas</firstname><surname>Cushion</surname><order>2</order></author><author><firstname>Georgios</firstname><surname>Niotakis</surname><order>3</order></author><author><firstname>Heather</firstname><surname>Olson</surname><order>4</order></author><author><firstname>P.</firstname><surname>Grant</surname><order>5</order></author><author><firstname>Richard</firstname><surname>Scott</surname><order>6</order></author><author><firstname>Neil</firstname><surname>Stoodley</surname><order>7</order></author><author><firstname>Julie</firstname><surname>Cohen</surname><order>8</order></author><author><firstname>Sakkubai</firstname><surname>Naidu</surname><order>9</order></author><author><firstname>Tania</firstname><surname>Attie-Bitach</surname><order>10</order></author><author><firstname>Maryse</firstname><surname>Bonni&#xE8;res</surname><order>11</order></author><author><firstname>Lucile</firstname><surname>Boutaud</surname><order>12</order></author><author><firstname>F&#xE9;recht&#xE9;</firstname><surname>Encha-Razavi</surname><order>13</order></author><author><firstname>Sheila</firstname><surname>Palmer-Smith</surname><order>14</order></author><author><firstname>Hood</firstname><surname>Mugalaasi</surname><order>15</order></author><author><firstname>Jonathan</firstname><surname>Mullins</surname><orcid>0000-0003-0144-2962</orcid><order>16</order></author><author><firstname>Daniela</firstname><surname>Pilz</surname><order>17</order></author><author><firstname>Andrew</firstname><surname>Fry</surname><order>18</order></author></authors><documents><document><filename>0043598-30082018162147.pdf</filename><originalFilename>43598.pdf</originalFilename><uploaded>2018-08-30T16:21:47.4470000</uploaded><type>Output</type><contentLength>2269188</contentLength><contentType>application/pdf</contentType><version>Version of Record</version><cronfaStatus>true</cronfaStatus><embargoDate>2018-08-29T00:00:00.0000000</embargoDate><documentNotes>Released under the terms of a Creative Commons Attribution (CC-BY) license.</documentNotes><copyrightCorrect>true</copyrightCorrect><language>eng</language></document></documents><OutputDurs/></rfc1807>
spelling 2018-08-30T16:23:14.6190896 v2 43598 2018-08-30 Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation 4cf2dddedbe1dacb506ec925fdbd5b40 0000-0003-0144-2962 Jonathan Mullins Jonathan Mullins true false 2018-08-30 BMS Journal Article Brain Sciences 8 8 145 2076-3425 7 8 2018 2018-08-07 10.3390/brainsci8080145 COLLEGE NANME Biomedical Sciences COLLEGE CODE BMS Swansea University 2018-08-30T16:23:14.6190896 2018-08-30T16:20:13.8911455 Faculty of Medicine, Health and Life Sciences Swansea University Medical School - Medicine Jennifer Gardner 1 Thomas Cushion 2 Georgios Niotakis 3 Heather Olson 4 P. Grant 5 Richard Scott 6 Neil Stoodley 7 Julie Cohen 8 Sakkubai Naidu 9 Tania Attie-Bitach 10 Maryse Bonnières 11 Lucile Boutaud 12 Férechté Encha-Razavi 13 Sheila Palmer-Smith 14 Hood Mugalaasi 15 Jonathan Mullins 0000-0003-0144-2962 16 Daniela Pilz 17 Andrew Fry 18 0043598-30082018162147.pdf 43598.pdf 2018-08-30T16:21:47.4470000 Output 2269188 application/pdf Version of Record true 2018-08-29T00:00:00.0000000 Released under the terms of a Creative Commons Attribution (CC-BY) license. true eng
title Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation
spellingShingle Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation
Jonathan Mullins
title_short Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation
title_full Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation
title_fullStr Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation
title_full_unstemmed Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation
title_sort Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation
author_id_str_mv 4cf2dddedbe1dacb506ec925fdbd5b40
author_id_fullname_str_mv 4cf2dddedbe1dacb506ec925fdbd5b40_***_Jonathan Mullins
author Jonathan Mullins
author2 Jennifer Gardner
Thomas Cushion
Georgios Niotakis
Heather Olson
P. Grant
Richard Scott
Neil Stoodley
Julie Cohen
Sakkubai Naidu
Tania Attie-Bitach
Maryse Bonnières
Lucile Boutaud
Férechté Encha-Razavi
Sheila Palmer-Smith
Hood Mugalaasi
Jonathan Mullins
Daniela Pilz
Andrew Fry
format Journal article
container_title Brain Sciences
container_volume 8
container_issue 8
container_start_page 145
publishDate 2018
institution Swansea University
issn 2076-3425
doi_str_mv 10.3390/brainsci8080145
college_str Faculty of Medicine, Health and Life Sciences
hierarchytype
hierarchy_top_id facultyofmedicinehealthandlifesciences
hierarchy_top_title Faculty of Medicine, Health and Life Sciences
hierarchy_parent_id facultyofmedicinehealthandlifesciences
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
document_store_str 1
active_str 0
published_date 2018-08-07T03:54:51Z
_version_ 1763752743471677440
score 11.036815