Article
Novel parkin mutations detected in patients with early-onset Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society - 1 Apr 2005
Bertoli-Avella Aida M, Giroud-Benitez José L, Akyol Ali, Barbosa Egberto, Schaap Onno, van der Linde Herma C, Martignoni Emilia, Lopiano Leonardo, Lamberti Paolo, Fincati Emiliana, Antonini Angelo, Stocchi Fabrizio, Montagna Pasquale, Squitieri Ferdinando, Marini Paolo, Abbruzzese Giovanni, Fabbrini Giovanni, Marconi Roberto, Dalla Libera Alessio, Trianni Giorgio, Guidi Marco, De Gaetano Antonio, Boff Maegawa Gustavo, De Leo Antonino, Gallai Virgilio, de Rosa Giulia, Vanacore Nicola, Meco Giuseppe, van Duijn Cornelia M, Oostra Ben A, Heutink Peter, Bonifati Vincenzo
Abstract excerpt
A multiethnic series of patients with early-onset Parkinson's disease (EOP) was studied to assess the frequency and nature of parkin/PARK2 gene mutations and to investigate phenotype-genotype relationships. Forty-six EOP probands with an onset age of < 45 years, and 14 affected relatives were ascertained from Italy, Brazil, Cuba, and Turkey. The genetic screening included direct sequencing and exon dosage using a...
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