UNIGE document Scientific Article
previous document  unige:45179  next document
add to browser collection
Title

Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms

Authors
Ibáñez, Pablo
Lesage, Suzanne
Janin, Sabine
Lohmann, Ebba
Durif, Frank
Destée, Alain
Bonnet, Anne-Marie
Brefel-Courbon, Christine
show hidden authors show all authors [1 - 13]
CollaborationWith : Pollak, Pierre
Published in Archives of Neurology. 2009, vol. 66, no. 1, p. 102-108
Abstract 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.
Keywords AdultAgedAged, 80 and overBrain Chemistry/geneticsChromosome BreakageDNA Mutational AnalysisDNA Repeat Expansion/geneticsFemaleGene Dosage/geneticsGenes, Dominant/geneticsGenetic Predisposition to Disease/geneticsGenetic TestingGenotypeHaplotypes/geneticsHumansMaleMicrosatellite Repeats/geneticsMiddle AgedOligonucleotide Array Sequence AnalysisParkinsonian Disorders/genetics/metabolism/physiopathologyPolymorphism, Single Nucleotide/geneticsAlpha-Synuclein/genetics
Identifiers
PMID: 19139307
Full text
Article (Published version) (154 Kb) - public document Free access
Structures
Research group Maladie de Parkinson (911)
Citation
(ISO format)
IBÁÑEZ, Pablo et al. Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms. In: Archives of Neurology, 2009, vol. 66, n° 1, p. 102-108. https://archive-ouverte.unige.ch/unige:45179

157 hits

140 downloads

Update

Deposited on : 2015-01-14

Export document
Format :
Citation style :