La maladie de Parkinson en France (serveur d'exploration)

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FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome

Identifieur interne : 000215 ( Pmc/Curation ); précédent : 000214; suivant : 000216

FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome

Auteurs : Ronald Am Buijsen [Pays-Bas] ; Chantal Sellier [France] ; Lies-Anne Wfm Severijnen [Pays-Bas] ; Mustapha Oulad-Abdelghani [France] ; Rob Fm Verhagen [Pays-Bas] ; Robert F. Berman [États-Unis] ; Nicolas Charlet-Berguerand [France] ; Rob Willemsen [Pays-Bas] ; Renate K. Hukema [Pays-Bas]

Source :

RBID : PMC:4254384

Abstract

para

Electronic supplementary material

The online version of this article (doi:10.1186/s40478-014-0162-2) contains supplementary material, which is available to authorized users.


Url:
DOI: 10.1186/s40478-014-0162-2
PubMed: 25471011
PubMed Central: 4254384

Links toward previous steps (curation, corpus...)


Links to Exploration step

PMC:4254384

Le document en format XML

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<name sortKey="Isaacs, Am" uniqKey="Isaacs A">AM Isaacs</name>
</author>
</analytic>
</biblStruct>
</listBibl>
</div1>
</back>
</TEI>
<pmc article-type="research-article">
<pmc-dir>properties open_access</pmc-dir>
<front>
<journal-meta>
<journal-id journal-id-type="nlm-ta">Acta Neuropathol Commun</journal-id>
<journal-id journal-id-type="iso-abbrev">Acta Neuropathol Commun</journal-id>
<journal-title-group>
<journal-title>Acta Neuropathologica Communications</journal-title>
</journal-title-group>
<issn pub-type="epub">2051-5960</issn>
<publisher>
<publisher-name>BioMed Central</publisher-name>
<publisher-loc>London</publisher-loc>
</publisher>
</journal-meta>
<article-meta>
<article-id pub-id-type="pmid">25471011</article-id>
<article-id pub-id-type="pmc">4254384</article-id>
<article-id pub-id-type="publisher-id">162</article-id>
<article-id pub-id-type="doi">10.1186/s40478-014-0162-2</article-id>
<article-categories>
<subj-group subj-group-type="heading">
<subject>Letter to the Editor</subject>
</subj-group>
</article-categories>
<title-group>
<article-title>FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome</article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname>Buijsen</surname>
<given-names>Ronald AM</given-names>
</name>
<address>
<email>r.buijsen@erasmusmc.nl</email>
</address>
<xref ref-type="aff" rid="Aff1"></xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Sellier</surname>
<given-names>Chantal</given-names>
</name>
<address>
<email>sellier@igbmc.fr</email>
</address>
<xref ref-type="aff" rid="Aff2"></xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Severijnen</surname>
<given-names>Lies-Anne WFM</given-names>
</name>
<address>
<email>e.severijnen@erasmusmc.nl</email>
</address>
<xref ref-type="aff" rid="Aff1"></xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Oulad-Abdelghani</surname>
<given-names>Mustapha</given-names>
</name>
<address>
<email>oulad@igbmc.fr</email>
</address>
<xref ref-type="aff" rid="Aff2"></xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Verhagen</surname>
<given-names>Rob FM</given-names>
</name>
<address>
<email>r.verhagen@erasmusmc.nl</email>
</address>
<xref ref-type="aff" rid="Aff1"></xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Berman</surname>
<given-names>Robert F</given-names>
</name>
<address>
<email>rfberman@ucdavis.edu</email>
</address>
<xref ref-type="aff" rid="Aff3"></xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Charlet-Berguerand</surname>
<given-names>Nicolas</given-names>
</name>
<address>
<email>ncharlet@igbmc.fr</email>
</address>
<xref ref-type="aff" rid="Aff2"></xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Willemsen</surname>
<given-names>Rob</given-names>
</name>
<address>
<email>r.willemsen@erasmusmc.nl</email>
</address>
<xref ref-type="aff" rid="Aff1"></xref>
</contrib>
<contrib contrib-type="author" corresp="yes">
<name>
<surname>Hukema</surname>
<given-names>Renate K</given-names>
</name>
<address>
<email>r.hukema@erasmusmc.nl</email>
</address>
<xref ref-type="aff" rid="Aff1"></xref>
</contrib>
<aff id="Aff1">
<label></label>
Department of Clinical Genetics, Erasmus, MC PO Box 2040, 3000CA The Netherlands</aff>
<aff id="Aff2">
<label></label>
Department of Neurobiology and Genetics, IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg, Illkirch, France</aff>
<aff id="Aff3">
<label></label>
Department of Neurological Surgery, UC Davis, Davis, CA 95618 USA</aff>
</contrib-group>
<pub-date pub-type="epub">
<day>26</day>
<month>11</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="pmc-release">
<day>26</day>
<month>11</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="collection">
<year>2014</year>
</pub-date>
<volume>2</volume>
<elocation-id>162</elocation-id>
<history>
<date date-type="received">
<day>8</day>
<month>10</month>
<year>2014</year>
</date>
<date date-type="accepted">
<day>8</day>
<month>11</month>
<year>2014</year>
</date>
</history>
<permissions>
<copyright-statement>© Buijsen et al.; licensee BioMed Central Ltd. 2014</copyright-statement>
<license license-type="open-access">
<license-p>This is an Open Access article distributed under the terms of the Creative Commons Attribution License (
<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/4.0">http://creativecommons.org/licenses/by/4.0</ext-link>
), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (
<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/publicdomain/zero/1.0/">http://creativecommons.org/publicdomain/zero/1.0/</ext-link>
) applies to the data made available in this article, unless otherwise stated.</license-p>
</license>
</permissions>
<abstract id="Abs1">
<p>para</p>
<sec>
<title>Electronic supplementary material</title>
<p>The online version of this article (doi:10.1186/s40478-014-0162-2) contains supplementary material, which is available to authorized users.</p>
</sec>
</abstract>
<kwd-group xml:lang="en">
<title>Keywords</title>
<kwd>FXTAS</kwd>
<kwd>CGG repeat</kwd>
<kwd>FMRpolyG</kwd>
<kwd>RAN translation</kwd>
<kwd>Gain-of-function</kwd>
<kwd>Inclusions</kwd>
</kwd-group>
<custom-meta-group>
<custom-meta>
<meta-name>issue-copyright-statement</meta-name>
<meta-value>© The Author(s) 2014</meta-value>
</custom-meta>
</custom-meta-group>
</article-meta>
</front>
</pmc>
</record>

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