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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2009-1-13
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pubmed:abstractText |
Genomic multiplications of the alpha-synuclein gene (SNCA) cause autosomal dominant Parkinson disease (ADPD). The aim of this study was to assess the frequency and phenotype of SNCA rearrangements in a large series of families with typical or atypical AD parkinsonism.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1538-3687
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pubmed:author |
pubmed-author:AgidYvesY,
pubmed-author:BonnetAnne-MarieAM,
pubmed-author:Brefel-CourbonChristineC,
pubmed-author:BriceAlexisA,
pubmed-author:DürrAlexandraA,
pubmed-author:DestéeAlainA,
pubmed-author:DurifFrankF,
pubmed-author:French Parkinson's Disease Genetics Study Group,
pubmed-author:HeathSimonS,
pubmed-author:IbáñezPabloP,
pubmed-author:JaninSabineS,
pubmed-author:LesageSuzanneS,
pubmed-author:LohmannEbbaE,
pubmed-author:ZelenikaDianaD
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pubmed:issnType |
Electronic
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pubmed:volume |
66
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
102-8
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:19139307-Adult,
pubmed-meshheading:19139307-Aged,
pubmed-meshheading:19139307-Aged, 80 and over,
pubmed-meshheading:19139307-Brain Chemistry,
pubmed-meshheading:19139307-Chromosome Breakage,
pubmed-meshheading:19139307-DNA Mutational Analysis,
pubmed-meshheading:19139307-DNA Repeat Expansion,
pubmed-meshheading:19139307-Female,
pubmed-meshheading:19139307-Gene Dosage,
pubmed-meshheading:19139307-Genes, Dominant,
pubmed-meshheading:19139307-Genetic Predisposition to Disease,
pubmed-meshheading:19139307-Genetic Testing,
pubmed-meshheading:19139307-Genotype,
pubmed-meshheading:19139307-Haplotypes,
pubmed-meshheading:19139307-Humans,
pubmed-meshheading:19139307-Male,
pubmed-meshheading:19139307-Microsatellite Repeats,
pubmed-meshheading:19139307-Middle Aged,
pubmed-meshheading:19139307-Oligonucleotide Array Sequence Analysis,
pubmed-meshheading:19139307-Parkinsonian Disorders,
pubmed-meshheading:19139307-Polymorphism, Single Nucleotide,
pubmed-meshheading:19139307-alpha-Synuclein
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pubmed:year |
2009
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pubmed:articleTitle |
Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms.
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pubmed:affiliation |
Institut National de la Santé et de la Recherche Médicale (INSERM), Unité Mixte de Recherche en Santé (UMR)_S679 Neurologie & Thérapeutique Expérimentale, F-75013, Paris, France.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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