Homozygous SCA 2 mutations changes phenotype and hastens progression.
Identifieur interne : 002042 ( Ncbi/Curation ); précédent : 002041; suivant : 002043Homozygous SCA 2 mutations changes phenotype and hastens progression.
Auteurs : Mona Ragothaman ; Uday MuthaneSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
English descriptors
- KwdEn :
- Antiparkinson Agents (therapeutic use), Dementia (diagnosis), Dementia (genetics), Disease Progression, Dyskinesias (diagnosis), Dyskinesias (genetics), Female, Follow-Up Studies, Homozygote, Humans, Levodopa (therapeutic use), Male, Mutation, Nerve Tissue Proteins (genetics), Ocular Motility Disorders (diagnosis), Ocular Motility Disorders (genetics), Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (drug therapy), Parkinsonian Disorders (genetics), Phenotype, Psychotic Disorders (diagnosis), Psychotic Disorders (genetics), Spinocerebellar Degenerations (genetics), Spinocerebellar Degenerations (physiopathology).
- MESH :
- chemical , genetics : Nerve Tissue Proteins.
- chemical , therapeutic use : Antiparkinson Agents, Levodopa.
- diagnosis : Dementia, Dyskinesias, Ocular Motility Disorders, Parkinsonian Disorders, Psychotic Disorders.
- drug therapy : Parkinsonian Disorders.
- genetics : Dementia, Dyskinesias, Ocular Motility Disorders, Parkinsonian Disorders, Psychotic Disorders, Spinocerebellar Degenerations.
- physiopathology : Spinocerebellar Degenerations.
- Disease Progression, Female, Follow-Up Studies, Homozygote, Humans, Male, Mutation, Phenotype.
DOI: 10.1002/mds.21950
PubMed: 18265007
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :002317
- to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :002317
- to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :002259
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :002042
Links to Exploration step
pubmed:18265007Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Homozygous SCA 2 mutations changes phenotype and hastens progression.</title>
<author><name sortKey="Ragothaman, Mona" sort="Ragothaman, Mona" uniqKey="Ragothaman M" first="Mona" last="Ragothaman">Mona Ragothaman</name>
</author>
<author><name sortKey="Muthane, Uday" sort="Muthane, Uday" uniqKey="Muthane U" first="Uday" last="Muthane">Uday Muthane</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2008">2008</date>
<idno type="doi">10.1002/mds.21950</idno>
<idno type="RBID">pubmed:18265007</idno>
<idno type="pmid">18265007</idno>
<idno type="wicri:Area/PubMed/Corpus">002317</idno>
<idno type="wicri:Area/PubMed/Curation">002317</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002259</idno>
<idno type="wicri:Area/Ncbi/Merge">002042</idno>
<idno type="wicri:Area/Ncbi/Curation">002042</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Homozygous SCA 2 mutations changes phenotype and hastens progression.</title>
<author><name sortKey="Ragothaman, Mona" sort="Ragothaman, Mona" uniqKey="Ragothaman M" first="Mona" last="Ragothaman">Mona Ragothaman</name>
</author>
<author><name sortKey="Muthane, Uday" sort="Muthane, Uday" uniqKey="Muthane U" first="Uday" last="Muthane">Uday Muthane</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="2008" type="published">2008</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Antiparkinson Agents (therapeutic use)</term>
<term>Dementia (diagnosis)</term>
<term>Dementia (genetics)</term>
<term>Disease Progression</term>
<term>Dyskinesias (diagnosis)</term>
<term>Dyskinesias (genetics)</term>
<term>Female</term>
<term>Follow-Up Studies</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Levodopa (therapeutic use)</term>
<term>Male</term>
<term>Mutation</term>
<term>Nerve Tissue Proteins (genetics)</term>
<term>Ocular Motility Disorders (diagnosis)</term>
<term>Ocular Motility Disorders (genetics)</term>
<term>Parkinsonian Disorders (diagnosis)</term>
<term>Parkinsonian Disorders (drug therapy)</term>
<term>Parkinsonian Disorders (genetics)</term>
<term>Phenotype</term>
<term>Psychotic Disorders (diagnosis)</term>
<term>Psychotic Disorders (genetics)</term>
<term>Spinocerebellar Degenerations (genetics)</term>
<term>Spinocerebellar Degenerations (physiopathology)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Antiparkinson Agents</term>
<term>Levodopa</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dementia</term>
<term>Dyskinesias</term>
<term>Ocular Motility Disorders</term>
<term>Parkinsonian Disorders</term>
<term>Psychotic Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Parkinsonian Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dementia</term>
<term>Dyskinesias</term>
<term>Ocular Motility Disorders</term>
<term>Parkinsonian Disorders</term>
<term>Psychotic Disorders</term>
<term>Spinocerebellar Degenerations</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Spinocerebellar Degenerations</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Disease Progression</term>
<term>Female</term>
<term>Follow-Up Studies</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
<term>Phenotype</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
</TEI>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Ncbi/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002042 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd -nk 002042 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= Ncbi |étape= Curation |type= RBID |clé= pubmed:18265007 |texte= Homozygous SCA 2 mutations changes phenotype and hastens progression. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/RBID.i -Sk "pubmed:18265007" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd \ | NlmPubMed2Wicri -a MovDisordV3
![]() | This area was generated with Dilib version V0.6.23. | ![]() |