Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration.
Identifieur interne : 000494 ( Main/Curation ); précédent : 000493; suivant : 000495Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration.
Auteurs : Geetanjali S. Rathore [États-Unis] ; Christian P. Schaaf ; Amber J. StoccoSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Carrier Proteins.
- genetics : Dystonia, Intellectual Disability, Nerve Degeneration, Neurodegenerative Diseases, Quadriplegia.
- Adolescent, Female, Humans, Mutation.
DOI: 10.1002/mds.25868
PubMed: 24610255
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000558
- to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :000558
- to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :000501
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :003F39
- to stream Ncbi, to step Curation: Pour aller vers cette notice dans l'étape Curation :003F39
- to stream Ncbi, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :003F39
- to stream Main, to step Merge: Pour aller vers cette notice dans l'étape Curation :000494
Links to Exploration step
pubmed:24610255Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration.</title>
<author><name sortKey="Rathore, Geetanjali S" sort="Rathore, Geetanjali S" uniqKey="Rathore G" first="Geetanjali S" last="Rathore">Geetanjali S. Rathore</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Neurology and Developmental Neuroscience, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology and Developmental Neuroscience, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schaaf, Christian P" sort="Schaaf, Christian P" uniqKey="Schaaf C" first="Christian P" last="Schaaf">Christian P. Schaaf</name>
</author>
<author><name sortKey="Stocco, Amber J" sort="Stocco, Amber J" uniqKey="Stocco A" first="Amber J" last="Stocco">Amber J. Stocco</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2014">2014</date>
<idno type="doi">10.1002/mds.25868</idno>
<idno type="RBID">pubmed:24610255</idno>
<idno type="pmid">24610255</idno>
<idno type="wicri:Area/PubMed/Corpus">000558</idno>
<idno type="wicri:Area/PubMed/Curation">000558</idno>
<idno type="wicri:Area/PubMed/Checkpoint">000501</idno>
<idno type="wicri:Area/Ncbi/Merge">003F39</idno>
<idno type="wicri:Area/Ncbi/Curation">003F39</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">003F39</idno>
<idno type="wicri:Area/Main/Merge">000494</idno>
<idno type="wicri:Area/Main/Curation">000494</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration.</title>
<author><name sortKey="Rathore, Geetanjali S" sort="Rathore, Geetanjali S" uniqKey="Rathore G" first="Geetanjali S" last="Rathore">Geetanjali S. Rathore</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Neurology and Developmental Neuroscience, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology and Developmental Neuroscience, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schaaf, Christian P" sort="Schaaf, Christian P" uniqKey="Schaaf C" first="Christian P" last="Schaaf">Christian P. Schaaf</name>
</author>
<author><name sortKey="Stocco, Amber J" sort="Stocco, Amber J" uniqKey="Stocco A" first="Amber J" last="Stocco">Amber J. Stocco</name>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2014" type="published">2014</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Carrier Proteins (genetics)</term>
<term>Dystonia (genetics)</term>
<term>Female</term>
<term>Humans</term>
<term>Intellectual Disability (genetics)</term>
<term>Mutation</term>
<term>Nerve Degeneration (genetics)</term>
<term>Neurodegenerative Diseases (genetics)</term>
<term>Quadriplegia (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Carrier Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term>
<term>Intellectual Disability</term>
<term>Nerve Degeneration</term>
<term>Neurodegenerative Diseases</term>
<term>Quadriplegia</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Female</term>
<term>Humans</term>
<term>Mutation</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
</TEI>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000494 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Curation/biblio.hfd -nk 000494 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= Main |étape= Curation |type= RBID |clé= pubmed:24610255 |texte= Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Curation/RBID.i -Sk "pubmed:24610255" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Curation/biblio.hfd \ | NlmPubMed2Wicri -a MovDisordV3
![]() | This area was generated with Dilib version V0.6.23. | ![]() |