Journal article 952 views 124 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
-
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
Abstract
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins
Published in: | Human Molecular Genetics |
---|---|
Published: |
Hum. Molec. Genetics
2010
|
URI: | https://cronfa.swan.ac.uk/Record/cronfa9951 |
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><firstname>Mark</firstname><surname>Rees</surname><name>Mark Rees</name><active>true</active><ethesisStudent>false</ethesisStudent></author><author><sid>cbe1f69bc607cd1de70a086a4dbcee43</sid><ORCID>O-3986-2017</ORCID><firstname>Thomas</firstname><surname>Cushion</surname><name>Thomas Cushion</name><active>true</active><ethesisStudent>false</ethesisStudent></author></swanseaauthors><date>2012-03-21</date><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><CollegeCode>COLLEGE CODE</CollegeCode><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><order>14</order></author><author><firstname>Thomas</firstname><surname>Cushion</surname><orcid>O-3986-2017</orcid><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 O-3986-2017 Thomas Cushion Thomas Cushion true false 2012-03-21 Journal Article Human Molecular Genetics 19 14 2817 2827 Hum. Molec. Genetics 15 7 2010 2010-07-15 10.1093/hmg/ddq182 COLLEGE NANME COLLEGE CODE 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 O-3986-2017 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 |
2010-07-15T03:18:45Z |
_version_ |
1821373917809344512 |
score |
11.04748 |