Homozygous SCA 2 mutations changes phenotype and hastens progression.
Identifieur interne : 002317 ( PubMed/Curation ); précédent : 002316; suivant : 002318Homozygous 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
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pubmed:18265007Le document en format XML
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<author><name sortKey="Muthane, Uday" sort="Muthane, Uday" uniqKey="Muthane U" first="Uday" last="Muthane">Uday Muthane</name>
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<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>
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<term>Psychotic Disorders (diagnosis)</term>
<term>Psychotic Disorders (genetics)</term>
<term>Spinocerebellar Degenerations (genetics)</term>
<term>Spinocerebellar Degenerations (physiopathology)</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term>
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<term>Ocular Motility Disorders</term>
<term>Parkinsonian Disorders</term>
<term>Psychotic Disorders</term>
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<keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Parkinsonian Disorders</term>
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<term>Dyskinesias</term>
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<term>Female</term>
<term>Follow-Up Studies</term>
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<DateRevised><Year>2013</Year>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D010641">Phenotype</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D013132">Spinocerebellar Degenerations</DescriptorName>
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