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rdf:type |
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lifeskim:mentions |
umls-concept:C0026882,
umls-concept:C0030567,
umls-concept:C0205214,
umls-concept:C0239307,
umls-concept:C0241888,
umls-concept:C0285890,
umls-concept:C0314657,
umls-concept:C0868928,
umls-concept:C1513822,
umls-concept:C1524003,
umls-concept:C1880171,
umls-concept:C2603343
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pubmed:issue |
2
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|
pubmed:dateCreated |
1998-8-25
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pubmed:abstractText |
We report the results of a screen of 230 European familial index cases of Parkinson's disease for the recently described Ala53Thr mutation in the alpha-synuclein gene in an autosomal dominant Parkinson's disease kindred. No mutations were found from this broad white population, and we therefore conclude that although of great interest, this mutation is a very rare cause of familial Parkinson's disease.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
|
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
0364-5134
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pubmed:author |
pubmed-author:AgidYY,
pubmed-author:BandmannOO,
pubmed-author:BereznaiBB,
pubmed-author:BonifatiVV,
pubmed-author:BretelerMM,
pubmed-author:BriceAA,
pubmed-author:De MicheleGG,
pubmed-author:DurrAA,
pubmed-author:FabrizioEE,
pubmed-author:GasserTT,
pubmed-author:GolbeL ILI,
pubmed-author:JohnsonW GWG,
pubmed-author:MarsdenC DCD,
pubmed-author:MeczLL,
pubmed-author:TassinJJ,
pubmed-author:VaughanJJ,
pubmed-author:VolpeGG,
pubmed-author:WinnR HRH
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pubmed:issnType |
Print
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pubmed:volume |
44
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pubmed:owner |
NLM
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|
pubmed:authorsComplete |
Y
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pubmed:pagination |
270-3
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:9708553-Adult,
pubmed-meshheading:9708553-Aged,
pubmed-meshheading:9708553-Aged, 80 and over,
pubmed-meshheading:9708553-DNA,
pubmed-meshheading:9708553-Europe,
pubmed-meshheading:9708553-European Continental Ancestry Group,
pubmed-meshheading:9708553-Female,
pubmed-meshheading:9708553-Genetic Testing,
pubmed-meshheading:9708553-Humans,
pubmed-meshheading:9708553-Male,
pubmed-meshheading:9708553-Middle Aged,
pubmed-meshheading:9708553-Mutation,
pubmed-meshheading:9708553-Nerve Tissue Proteins,
pubmed-meshheading:9708553-Parkinson Disease,
pubmed-meshheading:9708553-Phosphoproteins,
pubmed-meshheading:9708553-Polymerase Chain Reaction,
pubmed-meshheading:9708553-Synucleins,
pubmed-meshheading:9708553-alpha-Synuclein
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pubmed:year |
1998
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pubmed:articleTitle |
The alpha-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: a study of 230 European cases. European Consortium on Genetic Susceptibility in Parkinson's Disease.
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pubmed:affiliation |
University Department of Clinical Neurology, Institute of Neurology, London, UK.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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