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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2001-4-13
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pubmed:abstractText |
alpha-Synuclein is present in Lewy bodies of patients with both sporadic and familial Parkinson's disease. However, pathogenic mutations Ala30Pro and Ala53Thr in alpha-synuclein are rare causes of disease. Synphilin-1 has been demonstrated to associate with alpha-synuclein and promote the formation of cytosolic inclusions in vitro. Two-point genetic linkage analysis of a dinucleotide repeat within the synphilin-1 gene initially implicated this locus as a cause of Parkinson's disease in three of nine families. However, subsequent haplotype, sequencing, and association analyses in these three families and an independent case-control series suggest that variability within the locus does not confer susceptibility to Parkinson's disease.
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pubmed:grant |
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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 |
Apr
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pubmed:issn |
0969-9961
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pubmed:author |
pubmed-author:AmouyelPP,
pubmed-author:BecquetEE,
pubmed-author:Chartier-HarlinM CMC,
pubmed-author:CrookRR,
pubmed-author:DefebvreLL,
pubmed-author:DestéeAA,
pubmed-author:EngelenderSS,
pubmed-author:FarrerMM,
pubmed-author:HardyJJ,
pubmed-author:HernandezDD,
pubmed-author:LevecqueCC,
pubmed-author:MourouxVV,
pubmed-author:RichardFF,
pubmed-author:RoseC SCS,
pubmed-author:SingletonAA
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pubmed:copyrightInfo |
Copyright 2001 Academic Press.
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pubmed:issnType |
Print
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pubmed:volume |
8
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
317-23
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:11300726-Aged,
pubmed-meshheading:11300726-Alleles,
pubmed-meshheading:11300726-Carrier Proteins,
pubmed-meshheading:11300726-Chromosome Mapping,
pubmed-meshheading:11300726-DNA Mutational Analysis,
pubmed-meshheading:11300726-Female,
pubmed-meshheading:11300726-Genetic Linkage,
pubmed-meshheading:11300726-Haplotypes,
pubmed-meshheading:11300726-Humans,
pubmed-meshheading:11300726-Male,
pubmed-meshheading:11300726-Middle Aged,
pubmed-meshheading:11300726-Nerve Tissue Proteins,
pubmed-meshheading:11300726-Parkinsonian Disorders,
pubmed-meshheading:11300726-Pedigree
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pubmed:year |
2001
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pubmed:articleTitle |
Genetic analysis of synphilin-1 in familial Parkinson's disease.
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pubmed:affiliation |
Neurogenetics Laboratory, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida 32224, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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