MovDisordV3, Main, Exploration, bibRecord, 000F08

A novel de novo pathogenic mutation in CACNA1A gene

Identifieur interne : 000F08 ( Main/Exploration ); précédent : 000F07; suivant : 000F09

A novel de novo pathogenic mutation in CACNA1A gene

Auteurs : Shinsuke Fujioka ; Sruti Rayaprolu ; Christina Sundal ; Daniel F. Broderick ; William A. Langley ; John Shoffner ; Lauren C. Hyams ; Rosa Rademakers ; Neill R. Graff-Radford ; William Tatum ; Owen A. Ross ; Zbigniew K. Wszolek

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2012.

RBID : PMC:3477248

English descriptors

KwdEn :
- Ataxia (diagnosis), Ataxia (genetics), Brain (pathology), Calcium Channels (genetics), Female, Humans, Magnetic Resonance Imaging, Mutation (genetics), Nystagmus, Pathologic (diagnosis), Nystagmus, Pathologic (genetics), Young Adult.
MESH :
- chemical , genetics : Calcium Channels.
- diagnosis : Ataxia, Nystagmus, Pathologic.
- genetics : Ataxia, Mutation, Nystagmus, Pathologic.
- pathology : Brain.
- Female, Humans, Magnetic Resonance Imaging, Young Adult.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3477248

DOI: 10.1002/mds.25198
PubMed: 23038654
PubMed Central: 3477248

Affiliations:

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A novel <italic>de novo</italic>
 pathogenic mutation in <italic>CACNA1A</italic>
 gene</title>
<author><name sortKey="Fujioka, Shinsuke" sort="Fujioka, Shinsuke" uniqKey="Fujioka S" first="Shinsuke" last="Fujioka">Shinsuke Fujioka</name>
<affiliation><nlm:aff id="A1">Mayo Clinic Jacksonville, Department of Neurology</nlm:aff>
<wicri:noCountry code="subfield">Department of Neurology</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Rayaprolu, Sruti" sort="Rayaprolu, Sruti" uniqKey="Rayaprolu S" first="Sruti" last="Rayaprolu">Sruti Rayaprolu</name>
<affiliation><nlm:aff id="A2">Mayo Clinic Jacksonville, Department of Neuroscience</nlm:aff>
<wicri:noCountry code="subfield">Department of Neuroscience</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Sundal, Christina" sort="Sundal, Christina" uniqKey="Sundal C" first="Christina" last="Sundal">Christina Sundal</name>
<affiliation><nlm:aff id="A1">Mayo Clinic Jacksonville, Department of Neurology</nlm:aff>
<wicri:noCountry code="subfield">Department of Neurology</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A3">Institute of Neuroscience and Physiology, Sahlgrenska University Hospital, Department of Clinical Neuroscience and Rehabilitation</nlm:aff>
<wicri:noCountry code="subfield">Department of Clinical Neuroscience and Rehabilitation</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Broderick, Daniel F" sort="Broderick, Daniel F" uniqKey="Broderick D" first="Daniel F." last="Broderick">Daniel F. Broderick</name>
<affiliation><nlm:aff id="A4">Mayo Clinic Jacksonville, Department of Radiology</nlm:aff>
<wicri:noCountry code="subfield">Department of Radiology</wicri:noCountry>
</affiliation>
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<author><name sortKey="Langley, William A" sort="Langley, William A" uniqKey="Langley W" first="William A." last="Langley">William A. Langley</name>
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<author><name sortKey="Shoffner, John" sort="Shoffner, John" uniqKey="Shoffner J" first="John" last="Shoffner">John Shoffner</name>
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</affiliation>
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<author><name sortKey="Graff Radford, Neill R" sort="Graff Radford, Neill R" uniqKey="Graff Radford N" first="Neill R." last="Graff-Radford">Neill R. Graff-Radford</name>
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<wicri:noCountry code="subfield">Department of Neurology</wicri:noCountry>
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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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<wicri:noCountry code="subfield">Department of Neuroscience</wicri:noCountry>
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<author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A novel <italic>de novo</italic>
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<author><name sortKey="Rayaprolu, Sruti" sort="Rayaprolu, Sruti" uniqKey="Rayaprolu S" first="Sruti" last="Rayaprolu">Sruti Rayaprolu</name>
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<author><name sortKey="Broderick, Daniel F" sort="Broderick, Daniel F" uniqKey="Broderick D" first="Daniel F." last="Broderick">Daniel F. Broderick</name>
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<author><name sortKey="Langley, William A" sort="Langley, William A" uniqKey="Langley W" first="William A." last="Langley">William A. Langley</name>
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<author><name sortKey="Shoffner, John" sort="Shoffner, John" uniqKey="Shoffner J" first="John" last="Shoffner">John Shoffner</name>
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<author><name sortKey="Hyams, Lauren C" sort="Hyams, Lauren C" uniqKey="Hyams L" first="Lauren C." last="Hyams">Lauren C. Hyams</name>
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<author><name sortKey="Graff Radford, Neill R" sort="Graff Radford, Neill R" uniqKey="Graff Radford N" first="Neill R." last="Graff-Radford">Neill R. Graff-Radford</name>
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<wicri:noCountry code="subfield">Department of Neuroscience</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<term>Brain (pathology)</term>
<term>Calcium Channels (genetics)</term>
<term>Female</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Mutation (genetics)</term>
<term>Nystagmus, Pathologic (diagnosis)</term>
<term>Nystagmus, Pathologic (genetics)</term>
<term>Young Adult</term>
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<term>Nystagmus, Pathologic</term>
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<term>Nystagmus, Pathologic</term>
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<name sortKey="Fujioka, Shinsuke" sort="Fujioka, Shinsuke" uniqKey="Fujioka S" first="Shinsuke" last="Fujioka">Shinsuke Fujioka</name>
<name sortKey="Graff Radford, Neill R" sort="Graff Radford, Neill R" uniqKey="Graff Radford N" first="Neill R." last="Graff-Radford">Neill R. Graff-Radford</name>
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<name sortKey="Langley, William A" sort="Langley, William A" uniqKey="Langley W" first="William A." last="Langley">William A. Langley</name>
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<name sortKey="Rayaprolu, Sruti" sort="Rayaprolu, Sruti" uniqKey="Rayaprolu S" first="Sruti" last="Rayaprolu">Sruti Rayaprolu</name>
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<name sortKey="Shoffner, John" sort="Shoffner, John" uniqKey="Shoffner J" first="John" last="Shoffner">John Shoffner</name>
<name sortKey="Sundal, Christina" sort="Sundal, Christina" uniqKey="Sundal C" first="Christina" last="Sundal">Christina Sundal</name>
<name sortKey="Tatum, William" sort="Tatum, William" uniqKey="Tatum W" first="William" last="Tatum">William Tatum</name>
<name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
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Movement Disorders (revue)

A novel de novo pathogenic mutation in CACNA1A gene

A novel de novo pathogenic mutation in CACNA1A gene

Source :

English descriptors

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

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

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.