Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.
Identifieur interne : 000454 ( Main/Exploration ); précédent : 000453; suivant : 000455Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.
Auteurs : Martje E. Van Egmond [Pays-Bas] ; Corien C. Verschuuren-Bemelmans ; Esther A. Nibbeling ; Jan Willem J. Elting ; Deborah A. Sival ; Oebele F. Brouwer ; Jeroen J. De Vries ; Hubertus P. Kremer ; Richard J. Sinke ; Marina A. Tijssen ; Tom J. De KoningSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Qb-SNARE Proteins.
- genetics : Myoclonic Cerebellar Dyssynergia.
- physiopathology : Muscle, Skeletal, Myoclonic Cerebellar Dyssynergia.
- Adult, Child, DNA Mutational Analysis, Humans, Male, Mutation, Myography, Phenotype, Young Adult.
Abstract
Ramsay Hunt syndrome (progressive myoclonus ataxia) is a descriptive diagnosis characterized by myoclonus, ataxia, and infrequent seizures. Often the etiology cannot be determined. Recently, a mutation in the GOSR2 gene (c.430G>T, p.Gly144Trp) was reported in 6 patients with childhood-onset progressive ataxia and myoclonus.
DOI: 10.1002/mds.25704
PubMed: 24458321
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 000597
- to stream PubMed, to step Curation: 000597
- to stream PubMed, to step Checkpoint: 000457
- to stream Ncbi, to step Merge: 003F00
- to stream Ncbi, to step Curation: 003F00
- to stream Ncbi, to step Checkpoint: 003F00
- to stream Main, to step Merge: 000454
- to stream Main, to step Curation: 000454
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.</title>
<author><name sortKey="Van Egmond, Martje E" sort="Van Egmond, Martje E" uniqKey="Van Egmond M" first="Martje E" last="Van Egmond">Martje E. Van Egmond</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Neurology, University of Groningen, University Medical Center Groningen, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Neurology, University of Groningen, University Medical Center Groningen</wicri:regionArea>
<orgName type="university">Université de Groningue</orgName>
<placeName><settlement type="city">Groningue (ville)</settlement>
<region>Groningue (province)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Verschuuren Bemelmans, Corien C" sort="Verschuuren Bemelmans, Corien C" uniqKey="Verschuuren Bemelmans C" first="Corien C" last="Verschuuren-Bemelmans">Corien C. Verschuuren-Bemelmans</name>
</author>
<author><name sortKey="Nibbeling, Esther A" sort="Nibbeling, Esther A" uniqKey="Nibbeling E" first="Esther A" last="Nibbeling">Esther A. Nibbeling</name>
</author>
<author><name sortKey="Elting, Jan Willem J" sort="Elting, Jan Willem J" uniqKey="Elting J" first="Jan Willem J" last="Elting">Jan Willem J. Elting</name>
</author>
<author><name sortKey="Sival, Deborah A" sort="Sival, Deborah A" uniqKey="Sival D" first="Deborah A" last="Sival">Deborah A. Sival</name>
</author>
<author><name sortKey="Brouwer, Oebele F" sort="Brouwer, Oebele F" uniqKey="Brouwer O" first="Oebele F" last="Brouwer">Oebele F. Brouwer</name>
</author>
<author><name sortKey="De Vries, Jeroen J" sort="De Vries, Jeroen J" uniqKey="De Vries J" first="Jeroen J" last="De Vries">Jeroen J. De Vries</name>
</author>
<author><name sortKey="Kremer, Hubertus P" sort="Kremer, Hubertus P" uniqKey="Kremer H" first="Hubertus P" last="Kremer">Hubertus P. Kremer</name>
</author>
<author><name sortKey="Sinke, Richard J" sort="Sinke, Richard J" uniqKey="Sinke R" first="Richard J" last="Sinke">Richard J. Sinke</name>
</author>
<author><name sortKey="Tijssen, Marina A" sort="Tijssen, Marina A" uniqKey="Tijssen M" first="Marina A" last="Tijssen">Marina A. Tijssen</name>
</author>
<author><name sortKey="De Koning, Tom J" sort="De Koning, Tom J" uniqKey="De Koning T" first="Tom J" last="De Koning">Tom J. De Koning</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2014">2014</date>
<idno type="doi">10.1002/mds.25704</idno>
<idno type="RBID">pubmed:24458321</idno>
<idno type="pmid">24458321</idno>
<idno type="wicri:Area/PubMed/Corpus">000597</idno>
<idno type="wicri:Area/PubMed/Curation">000597</idno>
<idno type="wicri:Area/PubMed/Checkpoint">000457</idno>
<idno type="wicri:Area/Ncbi/Merge">003F00</idno>
<idno type="wicri:Area/Ncbi/Curation">003F00</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">003F00</idno>
<idno type="wicri:Area/Main/Merge">000454</idno>
<idno type="wicri:Area/Main/Curation">000454</idno>
<idno type="wicri:Area/Main/Exploration">000454</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.</title>
<author><name sortKey="Van Egmond, Martje E" sort="Van Egmond, Martje E" uniqKey="Van Egmond M" first="Martje E" last="Van Egmond">Martje E. Van Egmond</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Neurology, University of Groningen, University Medical Center Groningen, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Neurology, University of Groningen, University Medical Center Groningen</wicri:regionArea>
<orgName type="university">Université de Groningue</orgName>
<placeName><settlement type="city">Groningue (ville)</settlement>
<region>Groningue (province)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Verschuuren Bemelmans, Corien C" sort="Verschuuren Bemelmans, Corien C" uniqKey="Verschuuren Bemelmans C" first="Corien C" last="Verschuuren-Bemelmans">Corien C. Verschuuren-Bemelmans</name>
</author>
<author><name sortKey="Nibbeling, Esther A" sort="Nibbeling, Esther A" uniqKey="Nibbeling E" first="Esther A" last="Nibbeling">Esther A. Nibbeling</name>
</author>
<author><name sortKey="Elting, Jan Willem J" sort="Elting, Jan Willem J" uniqKey="Elting J" first="Jan Willem J" last="Elting">Jan Willem J. Elting</name>
</author>
<author><name sortKey="Sival, Deborah A" sort="Sival, Deborah A" uniqKey="Sival D" first="Deborah A" last="Sival">Deborah A. Sival</name>
</author>
<author><name sortKey="Brouwer, Oebele F" sort="Brouwer, Oebele F" uniqKey="Brouwer O" first="Oebele F" last="Brouwer">Oebele F. Brouwer</name>
</author>
<author><name sortKey="De Vries, Jeroen J" sort="De Vries, Jeroen J" uniqKey="De Vries J" first="Jeroen J" last="De Vries">Jeroen J. De Vries</name>
</author>
<author><name sortKey="Kremer, Hubertus P" sort="Kremer, Hubertus P" uniqKey="Kremer H" first="Hubertus P" last="Kremer">Hubertus P. Kremer</name>
</author>
<author><name sortKey="Sinke, Richard J" sort="Sinke, Richard J" uniqKey="Sinke R" first="Richard J" last="Sinke">Richard J. Sinke</name>
</author>
<author><name sortKey="Tijssen, Marina A" sort="Tijssen, Marina A" uniqKey="Tijssen M" first="Marina A" last="Tijssen">Marina A. Tijssen</name>
</author>
<author><name sortKey="De Koning, Tom J" sort="De Koning, Tom J" uniqKey="De Koning T" first="Tom J" last="De Koning">Tom J. De Koning</name>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2014" type="published">2014</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Child</term>
<term>DNA Mutational Analysis</term>
<term>Humans</term>
<term>Male</term>
<term>Muscle, Skeletal (physiopathology)</term>
<term>Mutation</term>
<term>Myoclonic Cerebellar Dyssynergia (genetics)</term>
<term>Myoclonic Cerebellar Dyssynergia (physiopathology)</term>
<term>Myography</term>
<term>Phenotype</term>
<term>Qb-SNARE Proteins (genetics)</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Qb-SNARE Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Myoclonic Cerebellar Dyssynergia</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Muscle, Skeletal</term>
<term>Myoclonic Cerebellar Dyssynergia</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Child</term>
<term>DNA Mutational Analysis</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
<term>Myography</term>
<term>Phenotype</term>
<term>Young Adult</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Ramsay Hunt syndrome (progressive myoclonus ataxia) is a descriptive diagnosis characterized by myoclonus, ataxia, and infrequent seizures. Often the etiology cannot be determined. Recently, a mutation in the GOSR2 gene (c.430G>T, p.Gly144Trp) was reported in 6 patients with childhood-onset progressive ataxia and myoclonus.</div>
</front>
</TEI>
<affiliations><list><country><li>Pays-Bas</li>
</country>
<region><li>Groningue (province)</li>
</region>
<settlement><li>Groningue (ville)</li>
</settlement>
<orgName><li>Université de Groningue</li>
</orgName>
</list>
<tree><noCountry><name sortKey="Brouwer, Oebele F" sort="Brouwer, Oebele F" uniqKey="Brouwer O" first="Oebele F" last="Brouwer">Oebele F. Brouwer</name>
<name sortKey="De Koning, Tom J" sort="De Koning, Tom J" uniqKey="De Koning T" first="Tom J" last="De Koning">Tom J. De Koning</name>
<name sortKey="De Vries, Jeroen J" sort="De Vries, Jeroen J" uniqKey="De Vries J" first="Jeroen J" last="De Vries">Jeroen J. De Vries</name>
<name sortKey="Elting, Jan Willem J" sort="Elting, Jan Willem J" uniqKey="Elting J" first="Jan Willem J" last="Elting">Jan Willem J. Elting</name>
<name sortKey="Kremer, Hubertus P" sort="Kremer, Hubertus P" uniqKey="Kremer H" first="Hubertus P" last="Kremer">Hubertus P. Kremer</name>
<name sortKey="Nibbeling, Esther A" sort="Nibbeling, Esther A" uniqKey="Nibbeling E" first="Esther A" last="Nibbeling">Esther A. Nibbeling</name>
<name sortKey="Sinke, Richard J" sort="Sinke, Richard J" uniqKey="Sinke R" first="Richard J" last="Sinke">Richard J. Sinke</name>
<name sortKey="Sival, Deborah A" sort="Sival, Deborah A" uniqKey="Sival D" first="Deborah A" last="Sival">Deborah A. Sival</name>
<name sortKey="Tijssen, Marina A" sort="Tijssen, Marina A" uniqKey="Tijssen M" first="Marina A" last="Tijssen">Marina A. Tijssen</name>
<name sortKey="Verschuuren Bemelmans, Corien C" sort="Verschuuren Bemelmans, Corien C" uniqKey="Verschuuren Bemelmans C" first="Corien C" last="Verschuuren-Bemelmans">Corien C. Verschuuren-Bemelmans</name>
</noCountry>
<country name="Pays-Bas"><region name="Groningue (province)"><name sortKey="Van Egmond, Martje E" sort="Van Egmond, Martje E" uniqKey="Van Egmond M" first="Martje E" last="Van Egmond">Martje E. Van Egmond</name>
</region>
</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 000454 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000454 | 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= pubmed:24458321 |texte= Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:24458321" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \ | NlmPubMed2Wicri -a MovDisordV3
This area was generated with Dilib version V0.6.23. |