No Cover Image

Journal article 867 views 107 downloads

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins

R. A. Kumar, D. T. Pilz, T. D. Babatz, T. D. Cushion, K. Harvey, M. Topf, L. Yates, S. Robb, G. Uyanik, G. M. S. Mancini, M. I. Rees, R. J. Harvey, W. B. Dobyns, Mark Rees, Thomas Cushion

Human Molecular Genetics, Volume: 19, Issue: 14, Pages: 2817 - 2827

Swansea University Authors: Mark Rees, Thomas Cushion

  • Publication59TUBA1AinNMD.pdf

    PDF | Version of Record

    Distributed under the terms of a Creative Commons Attribution (CC-BY-4.0)

    Download (570.49KB)

DOI (Published version): 10.1093/hmg/ddq182

Published in: Human Molecular Genetics
Published: Hum. Molec. Genetics 2010
URI: https://cronfa.swan.ac.uk/Record/cronfa9951
Tags: Add Tag
No Tags, Be the first to tag this record!
first_indexed 2013-07-23T12:02:27Z
last_indexed 2019-07-22T13:52:28Z
id cronfa9951
recordtype SURis
fullrecord <?xml version="1.0"?><rfc1807><datestamp>2019-07-22T11:15:37.5850245</datestamp><bib-version>v2</bib-version><id>9951</id><entry>2012-03-21</entry><title>TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins</title><swanseaauthors><author><sid>10f39a4e9c2ee00d453cd84c10667ac8</sid><ORCID/><firstname>Mark</firstname><surname>Rees</surname><name>Mark Rees</name><active>true</active><ethesisStudent>false</ethesisStudent></author><author><sid>cbe1f69bc607cd1de70a086a4dbcee43</sid><firstname>Thomas</firstname><surname>Cushion</surname><name>Thomas Cushion</name><active>true</active><ethesisStudent>false</ethesisStudent></author></swanseaauthors><date>2012-03-21</date><deptcode>BMS</deptcode><abstract></abstract><type>Journal Article</type><journal>Human Molecular Genetics</journal><volume>19</volume><journalNumber>14</journalNumber><paginationStart>2817</paginationStart><paginationEnd>2827</paginationEnd><publisher>Hum. Molec. Genetics</publisher><keywords/><publishedDay>15</publishedDay><publishedMonth>7</publishedMonth><publishedYear>2010</publishedYear><publishedDate>2010-07-15</publishedDate><doi>10.1093/hmg/ddq182</doi><url/><notes></notes><college>COLLEGE NANME</college><department>Biomedical Sciences</department><CollegeCode>COLLEGE CODE</CollegeCode><DepartmentCode>BMS</DepartmentCode><institution>Swansea University</institution><apcterm/><lastEdited>2019-07-22T11:15:37.5850245</lastEdited><Created>2012-03-21T16:17:14.0000000</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>R. A.</firstname><surname>Kumar</surname><order>1</order></author><author><firstname>D. T.</firstname><surname>Pilz</surname><order>2</order></author><author><firstname>T. D.</firstname><surname>Babatz</surname><order>3</order></author><author><firstname>T. D.</firstname><surname>Cushion</surname><order>4</order></author><author><firstname>K.</firstname><surname>Harvey</surname><order>5</order></author><author><firstname>M.</firstname><surname>Topf</surname><order>6</order></author><author><firstname>L.</firstname><surname>Yates</surname><order>7</order></author><author><firstname>S.</firstname><surname>Robb</surname><order>8</order></author><author><firstname>G.</firstname><surname>Uyanik</surname><order>9</order></author><author><firstname>G. M. S.</firstname><surname>Mancini</surname><order>10</order></author><author><firstname>M. I.</firstname><surname>Rees</surname><order>11</order></author><author><firstname>R. J.</firstname><surname>Harvey</surname><order>12</order></author><author><firstname>W. B.</firstname><surname>Dobyns</surname><order>13</order></author><author><firstname>Mark</firstname><surname>Rees</surname><orcid/><order>14</order></author><author><firstname>Thomas</firstname><surname>Cushion</surname><order>15</order></author></authors><documents><document><filename>0009951-16072019154257.pdf</filename><originalFilename>Publication59TUBA1AinNMD.pdf</originalFilename><uploaded>2019-07-16T15:42:57.1430000</uploaded><type>Output</type><contentLength>575059</contentLength><contentType>application/pdf</contentType><version>Version of Record</version><cronfaStatus>true</cronfaStatus><embargoDate>2019-06-16T00:00:00.0000000</embargoDate><documentNotes>Distributed under the terms of a Creative Commons Attribution (CC-BY-4.0)</documentNotes><copyrightCorrect>true</copyrightCorrect><language>eng</language></document></documents><OutputDurs/></rfc1807>
spelling 2019-07-22T11:15:37.5850245 v2 9951 2012-03-21 TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins 10f39a4e9c2ee00d453cd84c10667ac8 Mark Rees Mark Rees true false cbe1f69bc607cd1de70a086a4dbcee43 Thomas Cushion Thomas Cushion true false 2012-03-21 BMS Journal Article Human Molecular Genetics 19 14 2817 2827 Hum. Molec. Genetics 15 7 2010 2010-07-15 10.1093/hmg/ddq182 COLLEGE NANME Biomedical Sciences COLLEGE CODE BMS Swansea University 2019-07-22T11:15:37.5850245 2012-03-21T16:17:14.0000000 Faculty of Medicine, Health and Life Sciences Swansea University Medical School - Medicine R. A. Kumar 1 D. T. Pilz 2 T. D. Babatz 3 T. D. Cushion 4 K. Harvey 5 M. Topf 6 L. Yates 7 S. Robb 8 G. Uyanik 9 G. M. S. Mancini 10 M. I. Rees 11 R. J. Harvey 12 W. B. Dobyns 13 Mark Rees 14 Thomas Cushion 15 0009951-16072019154257.pdf Publication59TUBA1AinNMD.pdf 2019-07-16T15:42:57.1430000 Output 575059 application/pdf Version of Record true 2019-06-16T00:00:00.0000000 Distributed under the terms of a Creative Commons Attribution (CC-BY-4.0) true eng
title TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins
spellingShingle TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins
Mark Rees
Thomas Cushion
title_short TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins
title_full TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins
title_fullStr TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins
title_full_unstemmed TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins
title_sort TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins
author_id_str_mv 10f39a4e9c2ee00d453cd84c10667ac8
cbe1f69bc607cd1de70a086a4dbcee43
author_id_fullname_str_mv 10f39a4e9c2ee00d453cd84c10667ac8_***_Mark Rees
cbe1f69bc607cd1de70a086a4dbcee43_***_Thomas Cushion
author Mark Rees
Thomas Cushion
author2 R. A. Kumar
D. T. Pilz
T. D. Babatz
T. D. Cushion
K. Harvey
M. Topf
L. Yates
S. Robb
G. Uyanik
G. M. S. Mancini
M. I. Rees
R. J. Harvey
W. B. Dobyns
Mark Rees
Thomas Cushion
format Journal article
container_title Human Molecular Genetics
container_volume 19
container_issue 14
container_start_page 2817
publishDate 2010
institution Swansea University
doi_str_mv 10.1093/hmg/ddq182
publisher Hum. Molec. Genetics
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 2010-07-15T03:11:25Z
_version_ 1763750010299613184
score 11.016593