MovDisordV3, PubMed, Checkpoint, bibRecord, 000674

Asymmetrical leg atrophy in levodopa-responsive dystonia due to a novel GTP cyclohydrolase mutation.

Identifieur interne : 000674 ( PubMed/Checkpoint ); précédent : 000673; suivant : 000675

Asymmetrical leg atrophy in levodopa-responsive dystonia due to a novel GTP cyclohydrolase mutation.

Auteurs : Eoin Mulroy [Irlande (pays)] ; Allan Mccarthy ; Tim Lynch ; Danny Costello ; Owen A. Ross

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.

RBID : pubmed:24474670

English descriptors

KwdEn :
- Adult, Atrophy (genetics), Dystonia (drug therapy), Dystonia (genetics), GTP Cyclohydrolase (genetics), Genetic Predisposition to Disease, Genetic Testing, Humans, Leg (pathology), Levodopa (therapeutic use), Male, Mutation (genetics).
MESH :
- chemical , genetics : GTP Cyclohydrolase.
- drug therapy : Dystonia.
- genetics : Atrophy, Dystonia, Mutation.
- pathology : Leg.
- chemical , therapeutic use : Levodopa.
- Adult, Genetic Predisposition to Disease, Genetic Testing, Humans, Male.

DOI: 10.1002/mds.25813
PubMed: 24474670

Affiliations:

Irlande (pays)

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

to stream PubMed, to step Corpus: 000595
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pubmed:24474670

Le document en format XML

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<author><name sortKey="Mulroy, Eoin" sort="Mulroy, Eoin" uniqKey="Mulroy E" first="Eoin" last="Mulroy">Eoin Mulroy</name>
<affiliation wicri:level="1"><nlm:affiliation>Dublin Neurological Institute, Mater Miserocordiae University Hospital, Dublin, Ireland.</nlm:affiliation>
<country xml:lang="fr">Irlande (pays)</country>
<wicri:regionArea>Dublin Neurological Institute, Mater Miserocordiae University Hospital, Dublin</wicri:regionArea>
<wicri:noRegion>Dublin</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mccarthy, Allan" sort="Mccarthy, Allan" uniqKey="Mccarthy A" first="Allan" last="Mccarthy">Allan Mccarthy</name>
</author>
<author><name sortKey="Lynch, Tim" sort="Lynch, Tim" uniqKey="Lynch T" first="Tim" last="Lynch">Tim Lynch</name>
</author>
<author><name sortKey="Costello, Danny" sort="Costello, Danny" uniqKey="Costello D" first="Danny" last="Costello">Danny Costello</name>
</author>
<author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A" last="Ross">Owen A. Ross</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Asymmetrical leg atrophy in levodopa-responsive dystonia due to a novel GTP cyclohydrolase mutation.</title>
<author><name sortKey="Mulroy, Eoin" sort="Mulroy, Eoin" uniqKey="Mulroy E" first="Eoin" last="Mulroy">Eoin Mulroy</name>
<affiliation wicri:level="1"><nlm:affiliation>Dublin Neurological Institute, Mater Miserocordiae University Hospital, Dublin, Ireland.</nlm:affiliation>
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<author><name sortKey="Mccarthy, Allan" sort="Mccarthy, Allan" uniqKey="Mccarthy A" first="Allan" last="Mccarthy">Allan Mccarthy</name>
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<author><name sortKey="Lynch, Tim" sort="Lynch, Tim" uniqKey="Lynch T" first="Tim" last="Lynch">Tim Lynch</name>
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<author><name sortKey="Costello, Danny" sort="Costello, Danny" uniqKey="Costello D" first="Danny" last="Costello">Danny Costello</name>
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<author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A" last="Ross">Owen A. Ross</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
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<term>Dystonia (genetics)</term>
<term>GTP Cyclohydrolase (genetics)</term>
<term>Genetic Predisposition to Disease</term>
<term>Genetic Testing</term>
<term>Humans</term>
<term>Leg (pathology)</term>
<term>Levodopa (therapeutic use)</term>
<term>Male</term>
<term>Mutation (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>GTP Cyclohydrolase</term>
</keywords>
<keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Dystonia</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Atrophy</term>
<term>Dystonia</term>
<term>Mutation</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Leg</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Levodopa</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Genetic Predisposition to Disease</term>
<term>Genetic Testing</term>
<term>Humans</term>
<term>Male</term>
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<DateRevised><Year>2015</Year>
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<JournalIssue CitedMedium="Internet"><Volume>29</Volume>
<Issue>3</Issue>
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<Month>Mar</Month>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
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<ArticleTitle>Asymmetrical leg atrophy in levodopa-responsive dystonia due to a novel GTP cyclohydrolase mutation.</ArticleTitle>
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<Initials>E</Initials>
<AffiliationInfo><Affiliation>Dublin Neurological Institute, Mater Miserocordiae University Hospital, Dublin, Ireland.</Affiliation>
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<Author ValidYN="Y"><LastName>McCarthy</LastName>
<ForeName>Allan</ForeName>
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<Author ValidYN="Y"><LastName>Lynch</LastName>
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<Author ValidYN="Y"><LastName>Costello</LastName>
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<Author ValidYN="Y"><LastName>Ross</LastName>
<ForeName>Owen A</ForeName>
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<Language>eng</Language>
<GrantList CompleteYN="Y"><Grant><GrantID>R01 NS078086</GrantID>
<Acronym>NS</Acronym>
<Agency>NINDS NIH HHS</Agency>
<Country>United States</Country>
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<ChemicalList><Chemical><RegistryNumber>46627O600J</RegistryNumber>
<NameOfSubstance UI="D007980">Levodopa</NameOfSubstance>
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<Chemical><RegistryNumber>EC 3.5.4.16</RegistryNumber>
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<CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>J Neurol Neurosurg Psychiatry. 2009 Aug;80(8):839-45</RefSource>
<PMID Version="1">19332422</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>J Neurol Neurosurg Psychiatry. 2006 Jan;77(1):18-23</RefSource>
<PMID Version="1">16361586</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Mov Disord. 2000 May;15(3):537-41</RefSource>
<PMID Version="1">10830421</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Adv Neurol. 1998;78:283-90</RefSource>
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<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D001284">Atrophy</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D004421">Dystonia</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D007866">Leg</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000473">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D007980">Levodopa</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName>
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</MeshHeading>
</MeshHeadingList>
<OtherID Source="NLM">NIHMS556861</OtherID>
<OtherID Source="NLM">PMC4389628</OtherID>
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<affiliations><list><country><li>Irlande (pays)</li>
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<tree><noCountry><name sortKey="Costello, Danny" sort="Costello, Danny" uniqKey="Costello D" first="Danny" last="Costello">Danny Costello</name>
<name sortKey="Lynch, Tim" sort="Lynch, Tim" uniqKey="Lynch T" first="Tim" last="Lynch">Tim Lynch</name>
<name sortKey="Mccarthy, Allan" sort="Mccarthy, Allan" uniqKey="Mccarthy A" first="Allan" last="Mccarthy">Allan Mccarthy</name>
<name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A" last="Ross">Owen A. Ross</name>
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<country name="Irlande (pays)"><noRegion><name sortKey="Mulroy, Eoin" sort="Mulroy, Eoin" uniqKey="Mulroy E" first="Eoin" last="Mulroy">Eoin Mulroy</name>
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</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Asymmetrical leg atrophy in levodopa-responsive dystonia due to a novel GTP cyclohydrolase mutation.

Asymmetrical leg atrophy in levodopa-responsive dystonia due to a novel GTP cyclohydrolase mutation.

Source :

English descriptors

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

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki