A novel CACNA1A mutation associated with adult-onset, paroxysmal head tremor.
Identifieur interne : 000B41 ( PubMed/Checkpoint ); précédent : 000B40; suivant : 000B42A novel CACNA1A mutation associated with adult-onset, paroxysmal head tremor.
Auteurs : Anna Molloy ; Okka Kimmich ; Joanne Martindale ; Helena Moore ; Michael Hutchinson ; Sean O'RiordanSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Calcium Channels.
- genetics : Mutation, Tremor.
- pathology : Brain.
- Humans, Magnetic Resonance Imaging, Male, Young Adult.
DOI: 10.1002/mds.25489
PubMed: 23696109
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
pubmed:23696109Le document en format XML
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<author><name sortKey="Kimmich, Okka" sort="Kimmich, Okka" uniqKey="Kimmich O" first="Okka" last="Kimmich">Okka Kimmich</name>
</author>
<author><name sortKey="Martindale, Joanne" sort="Martindale, Joanne" uniqKey="Martindale J" first="Joanne" last="Martindale">Joanne Martindale</name>
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<author><name sortKey="Moore, Helena" sort="Moore, Helena" uniqKey="Moore H" first="Helena" last="Moore">Helena Moore</name>
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<author><name sortKey="Hutchinson, Michael" sort="Hutchinson, Michael" uniqKey="Hutchinson M" first="Michael" last="Hutchinson">Michael Hutchinson</name>
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<author><name sortKey="O Riordan, Sean" sort="O Riordan, Sean" uniqKey="O Riordan S" first="Sean" last="O'Riordan">Sean O'Riordan</name>
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<author><name sortKey="Kimmich, Okka" sort="Kimmich, Okka" uniqKey="Kimmich O" first="Okka" last="Kimmich">Okka Kimmich</name>
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<author><name sortKey="Martindale, Joanne" sort="Martindale, Joanne" uniqKey="Martindale J" first="Joanne" last="Martindale">Joanne Martindale</name>
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<author><name sortKey="Moore, Helena" sort="Moore, Helena" uniqKey="Moore H" first="Helena" last="Moore">Helena Moore</name>
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<author><name sortKey="Hutchinson, Michael" sort="Hutchinson, Michael" uniqKey="Hutchinson M" first="Michael" last="Hutchinson">Michael Hutchinson</name>
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<author><name sortKey="O Riordan, Sean" sort="O Riordan, Sean" uniqKey="O Riordan S" first="Sean" last="O'Riordan">Sean O'Riordan</name>
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<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Mutation (genetics)</term>
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<Month>06</Month>
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<DateCompleted><Year>2014</Year>
<Month>01</Month>
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<JournalIssue CitedMedium="Internet"><Volume>28</Volume>
<Issue>6</Issue>
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<Month>Jun</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>A novel CACNA1A mutation associated with adult-onset, paroxysmal head tremor.</ArticleTitle>
<Pagination><MedlinePgn>842-3</MedlinePgn>
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<Author ValidYN="Y"><LastName>Kimmich</LastName>
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<ISSNLinking>0885-3185</ISSNLinking>
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<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C105656">CACNA1A protein, human</NameOfSubstance>
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<affiliations><list></list>
<tree><noCountry><name sortKey="Hutchinson, Michael" sort="Hutchinson, Michael" uniqKey="Hutchinson M" first="Michael" last="Hutchinson">Michael Hutchinson</name>
<name sortKey="Kimmich, Okka" sort="Kimmich, Okka" uniqKey="Kimmich O" first="Okka" last="Kimmich">Okka Kimmich</name>
<name sortKey="Martindale, Joanne" sort="Martindale, Joanne" uniqKey="Martindale J" first="Joanne" last="Martindale">Joanne Martindale</name>
<name sortKey="Molloy, Anna" sort="Molloy, Anna" uniqKey="Molloy A" first="Anna" last="Molloy">Anna Molloy</name>
<name sortKey="Moore, Helena" sort="Moore, Helena" uniqKey="Moore H" first="Helena" last="Moore">Helena Moore</name>
<name sortKey="O Riordan, Sean" sort="O Riordan, Sean" uniqKey="O Riordan S" first="Sean" last="O'Riordan">Sean O'Riordan</name>
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