MovDisordV3, PubMed, Curation, bibRecord, 003C57

Clinical features of a large Australian pedigree with episodic ataxia type 1.

Identifieur interne : 003C57 ( PubMed/Curation ); précédent : 003C56; suivant : 003C58

Clinical features of a large Australian pedigree with episodic ataxia type 1.

Auteurs : P J Hand [Australie] ; R J Gardner ; M A Knight ; S M Forrest ; E. Storey

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2001.

RBID : pubmed:11746627

Descripteurs français

Wicri :
- geographic : Australie.

English descriptors

KwdEn :
- Adult, Age of Onset, Ataxia (genetics), Ataxia (physiopathology), Australia, Child, Dysarthria (physiopathology), Family, Female, Gait Ataxia (physiopathology), Head Movements, Humans, Kv1.1 Potassium Channel, Male, Mutation, Missense, Myokymia (physiopathology), Pedigree, Potassium Channels (genetics), Potassium Channels, Voltage-Gated, Tremor (physiopathology), Videotape Recording.
MESH :
- chemical , genetics : Potassium Channels.
- chemical : Kv1.1 Potassium Channel, Potassium Channels, Voltage-Gated.
- geographic : Australia.
- genetics : Ataxia.
- physiopathology : Ataxia, Dysarthria, Gait Ataxia, Myokymia, Tremor.
- Adult, Age of Onset, Child, Family, Female, Head Movements, Humans, Male, Mutation, Missense, Pedigree, Videotape Recording.

PubMed: 11746627

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pubmed:11746627

Le document en format XML

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<author><name sortKey="Hand, P J" sort="Hand, P J" uniqKey="Hand P" first="P J" last="Hand">P J Hand</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Alfred Hospital, Prahran, Victoria, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Neurology, Alfred Hospital, Prahran, Victoria</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gardner, R J" sort="Gardner, R J" uniqKey="Gardner R" first="R J" last="Gardner">R J Gardner</name>
</author>
<author><name sortKey="Knight, M A" sort="Knight, M A" uniqKey="Knight M" first="M A" last="Knight">M A Knight</name>
</author>
<author><name sortKey="Forrest, S M" sort="Forrest, S M" uniqKey="Forrest S" first="S M" last="Forrest">S M Forrest</name>
</author>
<author><name sortKey="Storey, E" sort="Storey, E" uniqKey="Storey E" first="E" last="Storey">E. Storey</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2001">2001</date>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Clinical features of a large Australian pedigree with episodic ataxia type 1.</title>
<author><name sortKey="Hand, P J" sort="Hand, P J" uniqKey="Hand P" first="P J" last="Hand">P J Hand</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Alfred Hospital, Prahran, Victoria, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Neurology, Alfred Hospital, Prahran, Victoria</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gardner, R J" sort="Gardner, R J" uniqKey="Gardner R" first="R J" last="Gardner">R J Gardner</name>
</author>
<author><name sortKey="Knight, M A" sort="Knight, M A" uniqKey="Knight M" first="M A" last="Knight">M A Knight</name>
</author>
<author><name sortKey="Forrest, S M" sort="Forrest, S M" uniqKey="Forrest S" first="S M" last="Forrest">S M Forrest</name>
</author>
<author><name sortKey="Storey, E" sort="Storey, E" uniqKey="Storey E" first="E" last="Storey">E. Storey</name>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2001" type="published">2001</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Age of Onset</term>
<term>Ataxia (genetics)</term>
<term>Ataxia (physiopathology)</term>
<term>Australia</term>
<term>Child</term>
<term>Dysarthria (physiopathology)</term>
<term>Family</term>
<term>Female</term>
<term>Gait Ataxia (physiopathology)</term>
<term>Head Movements</term>
<term>Humans</term>
<term>Kv1.1 Potassium Channel</term>
<term>Male</term>
<term>Mutation, Missense</term>
<term>Myokymia (physiopathology)</term>
<term>Pedigree</term>
<term>Potassium Channels (genetics)</term>
<term>Potassium Channels, Voltage-Gated</term>
<term>Tremor (physiopathology)</term>
<term>Videotape Recording</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Potassium Channels</term>
</keywords>
<keywords scheme="MESH" type="chemical" xml:lang="en"><term>Kv1.1 Potassium Channel</term>
<term>Potassium Channels, Voltage-Gated</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Australia</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Ataxia</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Ataxia</term>
<term>Dysarthria</term>
<term>Gait Ataxia</term>
<term>Myokymia</term>
<term>Tremor</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Age of Onset</term>
<term>Child</term>
<term>Family</term>
<term>Female</term>
<term>Head Movements</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation, Missense</term>
<term>Pedigree</term>
<term>Videotape Recording</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Australie</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
</TEI>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">11746627</PMID>
<DateCreated><Year>2001</Year>
<Month>12</Month>
<Day>17</Day>
</DateCreated>
<DateCompleted><Year>2002</Year>
<Month>02</Month>
<Day>13</Day>
</DateCompleted>
<DateRevised><Year>2005</Year>
<Month>11</Month>
<Day>17</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN>
<JournalIssue CitedMedium="Print"><Volume>16</Volume>
<Issue>5</Issue>
<PubDate><Year>2001</Year>
<Month>Sep</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Clinical features of a large Australian pedigree with episodic ataxia type 1.</ArticleTitle>
<Pagination><MedlinePgn>938-9</MedlinePgn>
</Pagination>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Hand</LastName>
<ForeName>P J</ForeName>
<Initials>PJ</Initials>
<AffiliationInfo><Affiliation>Department of Neurology, Alfred Hospital, Prahran, Victoria, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Gardner</LastName>
<ForeName>R J</ForeName>
<Initials>RJ</Initials>
</Author>
<Author ValidYN="Y"><LastName>Knight</LastName>
<ForeName>M A</ForeName>
<Initials>MA</Initials>
</Author>
<Author ValidYN="Y"><LastName>Forrest</LastName>
<ForeName>S M</ForeName>
<Initials>SM</Initials>
</Author>
<Author ValidYN="Y"><LastName>Storey</LastName>
<ForeName>E</ForeName>
<Initials>E</Initials>
</Author>
</AuthorList>
<Language>eng</Language>
<DataBankList CompleteYN="Y"><DataBank><DataBankName>OMIM</DataBankName>
<AccessionNumberList><AccessionNumber>160120</AccessionNumber>
</AccessionNumberList>
</DataBank>
</DataBankList>
<PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType>
</PublicationTypeList>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C496946">KCNA1 protein, human</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D015221">Potassium Channels</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D024642">Potassium Channels, Voltage-Gated</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>147173-20-4</RegistryNumber>
<NameOfSubstance UI="D051662">Kv1.1 Potassium Channel</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D017668">Age of Onset</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D001259">Ataxia</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000503">physiopathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D001315">Australia</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002648">Child</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D004401">Dysarthria</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005190">Family</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020234">Gait Ataxia</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D019416">Head Movements</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D051662">Kv1.1 Potassium Channel</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D020125">Mutation, Missense</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020385">Myokymia</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D010375">Pedigree</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D015221">Potassium Channels</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D024642">Potassium Channels, Voltage-Gated</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D014202">Tremor</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D014743">Videotape Recording</DescriptorName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2001</Year>
<Month>12</Month>
<Day>18</Day>
<Hour>10</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2002</Year>
<Month>2</Month>
<Day>14</Day>
<Hour>10</Hour>
<Minute>1</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2001</Year>
<Month>12</Month>
<Day>18</Day>
<Hour>10</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">11746627</ArticleId>
<ArticleId IdType="pii">10.1002/mds.1169</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Clinical features of a large Australian pedigree with episodic ataxia type 1.

Clinical features of a large Australian pedigree with episodic ataxia type 1.

Source :

Descripteurs français

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