Clinical features of a large Australian pedigree with episodic ataxia type 1
Identifieur interne : 004843 ( Main/Exploration ); précédent : 004842; suivant : 004844Clinical features of a large Australian pedigree with episodic ataxia type 1
Auteurs : Peter J. Hand [Australie] ; R. J. Mckinlay Gardner [Australie] ; Melanie A. Knight [Australie] ; Susan M. Forrest [Australie] ; Elsdon Storey [Australie]Source :
- Movement Disorders [ 0885-3185 ] ; 2001-09.
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.
Url:
DOI: 10.1002/mds.1169
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 004310
- to stream Istex, to step Curation: 004310
- to stream Istex, to step Checkpoint: 003071
- to stream Main, to step Merge: 006D26
- to stream PubMed, to step Corpus: 003C57
- to stream PubMed, to step Curation: 003C57
- to stream PubMed, to step Checkpoint: 003D87
- to stream Ncbi, to step Merge: 000594
- to stream Ncbi, to step Curation: 000594
- to stream Ncbi, to step Checkpoint: 000594
- to stream Main, to step Merge: 006A89
- to stream Main, to step Curation: 004843
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Clinical features of a large Australian pedigree with episodic ataxia type 1</title>
<author><name sortKey="Hand, Peter J" sort="Hand, Peter J" uniqKey="Hand P" first="Peter J." last="Hand">Peter J. Hand</name>
</author>
<author><name sortKey="Gardner, R J Mckinlay" sort="Gardner, R J Mckinlay" uniqKey="Gardner R" first="R. J. Mckinlay" last="Gardner">R. J. Mckinlay Gardner</name>
</author>
<author><name sortKey="Knight, Melanie A" sort="Knight, Melanie A" uniqKey="Knight M" first="Melanie A." last="Knight">Melanie A. Knight</name>
</author>
<author><name sortKey="Forrest, Susan M" sort="Forrest, Susan M" uniqKey="Forrest S" first="Susan M." last="Forrest">Susan M. Forrest</name>
</author>
<author><name sortKey="Storey, Elsdon" sort="Storey, Elsdon" uniqKey="Storey E" first="Elsdon" last="Storey">Elsdon Storey</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:04B97612893DC3392801F1CCC7F6473D5C377A96</idno>
<date when="2001" year="2001">2001</date>
<idno type="doi">10.1002/mds.1169</idno>
<idno type="url">https://api.istex.fr/document/04B97612893DC3392801F1CCC7F6473D5C377A96/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">004310</idno>
<idno type="wicri:Area/Istex/Curation">004310</idno>
<idno type="wicri:Area/Istex/Checkpoint">003071</idno>
<idno type="wicri:doubleKey">0885-3185:2001:Hand P:clinical:features:of</idno>
<idno type="wicri:Area/Main/Merge">006D26</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:11746627</idno>
<idno type="wicri:Area/PubMed/Corpus">003C57</idno>
<idno type="wicri:Area/PubMed/Curation">003C57</idno>
<idno type="wicri:Area/PubMed/Checkpoint">003D87</idno>
<idno type="wicri:Area/Ncbi/Merge">000594</idno>
<idno type="wicri:Area/Ncbi/Curation">000594</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">000594</idno>
<idno type="wicri:doubleKey">0885-3185:2001:Hand P:clinical:features:of</idno>
<idno type="wicri:Area/Main/Merge">006A89</idno>
<idno type="wicri:Area/Main/Curation">004843</idno>
<idno type="wicri:Area/Main/Exploration">004843</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Clinical features of a large Australian pedigree with episodic ataxia type 1</title>
<author><name sortKey="Hand, Peter J" sort="Hand, Peter J" uniqKey="Hand P" first="Peter J." last="Hand">Peter J. Hand</name>
<affiliation wicri:level="1"><country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Neurology, Alfred Hospital, Prahran, Victoria</wicri:regionArea>
<wicri:noRegion>Victoria</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gardner, R J Mckinlay" sort="Gardner, R J Mckinlay" uniqKey="Gardner R" first="R. J. Mckinlay" last="Gardner">R. J. Mckinlay Gardner</name>
<affiliation wicri:level="1"><country xml:lang="fr">Australie</country>
<wicri:regionArea>Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea>
<wicri:noRegion>Victoria</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Knight, Melanie A" sort="Knight, Melanie A" uniqKey="Knight M" first="Melanie A." last="Knight">Melanie A. Knight</name>
<affiliation wicri:level="1"><country xml:lang="fr">Australie</country>
<wicri:regionArea>Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea>
<wicri:noRegion>Victoria</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea>
<wicri:noRegion>Victoria</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Forrest, Susan M" sort="Forrest, Susan M" uniqKey="Forrest S" first="Susan M." last="Forrest">Susan M. Forrest</name>
<affiliation wicri:level="1"><country xml:lang="fr">Australie</country>
<wicri:regionArea>Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea>
<wicri:noRegion>Victoria</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea>
<wicri:noRegion>Victoria</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Storey, Elsdon" sort="Storey, Elsdon" uniqKey="Storey E" first="Elsdon" last="Storey">Elsdon Storey</name>
<affiliation wicri:level="1"><country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Neurology, Alfred Hospital, Prahran, Victoria</wicri:regionArea>
<wicri:noRegion>Victoria</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Neuroscience, Monash University (Alfred Hospital Campus), Prahran, Victoria</wicri:regionArea>
<wicri:noRegion>Victoria</wicri:noRegion>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>John Wiley & Sons, Inc.</publisher>
<pubPlace>New York</pubPlace>
<date type="published" when="2001-09">2001-09</date>
<biblScope unit="vol">16</biblScope>
<biblScope unit="issue">5</biblScope>
<biblScope unit="page" from="938">938</biblScope>
<biblScope unit="page" to="939">939</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">04B97612893DC3392801F1CCC7F6473D5C377A96</idno>
<idno type="DOI">10.1002/mds.1169</idno>
<idno type="ArticleID">MDS1169</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</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>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
</TEI>
<affiliations><list><country><li>Australie</li>
</country>
</list>
<tree><country name="Australie"><noRegion><name sortKey="Hand, Peter J" sort="Hand, Peter J" uniqKey="Hand P" first="Peter J." last="Hand">Peter J. Hand</name>
</noRegion>
<name sortKey="Forrest, Susan M" sort="Forrest, Susan M" uniqKey="Forrest S" first="Susan M." last="Forrest">Susan M. Forrest</name>
<name sortKey="Forrest, Susan M" sort="Forrest, Susan M" uniqKey="Forrest S" first="Susan M." last="Forrest">Susan M. Forrest</name>
<name sortKey="Gardner, R J Mckinlay" sort="Gardner, R J Mckinlay" uniqKey="Gardner R" first="R. J. Mckinlay" last="Gardner">R. J. Mckinlay Gardner</name>
<name sortKey="Knight, Melanie A" sort="Knight, Melanie A" uniqKey="Knight M" first="Melanie A." last="Knight">Melanie A. Knight</name>
<name sortKey="Knight, Melanie A" sort="Knight, Melanie A" uniqKey="Knight M" first="Melanie A." last="Knight">Melanie A. Knight</name>
<name sortKey="Storey, Elsdon" sort="Storey, Elsdon" uniqKey="Storey E" first="Elsdon" last="Storey">Elsdon Storey</name>
<name sortKey="Storey, Elsdon" sort="Storey, Elsdon" uniqKey="Storey E" first="Elsdon" last="Storey">Elsdon Storey</name>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 004843 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 004843 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= Main |étape= Exploration |type= RBID |clé= ISTEX:04B97612893DC3392801F1CCC7F6473D5C377A96 |texte= Clinical features of a large Australian pedigree with episodic ataxia type 1 }}
![]() | This area was generated with Dilib version V0.6.23. | ![]() |