DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease
Date
2016Author
Rietveld, A.
Massaro, F.
Federico, A.
Taglia, I.
Battisti, C.
Marconi, R.
Onofrj, M.
Thomas, A.
Vanacore, N.
Meco, G.
Fabbrini, G.
Fabrizio, E.
Berardelli, A.
Stocchi, F.
Vacca, L.
Picillo, M.
De Rosa, A.
Criscuolo, C.
De Michele, G.
Filla, A.
Barone, P.
De Mari, M.
Dell'Aquila, C.
Iliceto, G.
Lamberti, P.
Toni, V.
Trianni, G.
Gagliardi, M.
Annesi, G.
Quattrone, A.
Cossu, G.
Melis, M.
Tufekcioglu, Z.
Bilgic, B.
Hanagasi, Haşmet Ayhan
Saddi, V.
Lopiano, L.
Olgiati, Simone
Quadri, Marialuisa
Fang, Mingyan
Rood, Janneke P. M. A.
Saute, Jonas A.
Chien, Hsin Fen
Bouwkamp, Christian G.
Graafland, Josja
Minneboo, Michelle
Breedveld, Guido J.
Zhang, Jianguo
Verheijen, Frans W.
Boon, Agnita J. W.
Kievit, Anneke J. A.
Jardim, Laura Bannach
Mandemakers, Wim
Barbosa, Egberto Reis
Rieder, Carlos R. M.
Leenders, Klaus L.
Wang, Jun
Bonifati, Vincenzo
van de Warrenburg, B.
Delnooz, C.
Bloem, B.
Ferreira, J.
Correia Guedes, L.
Tolosa, E.
Kurtiz, M. M.
Obeso, J.
Emre, M.
Elibol, B.
Lu, Chin-Song
Wu-Chou, Yah-Huei
Yeh, Tu-Hsueh
Atadzhanov, M.
Kelly, P.
Tassorelli, C.
Pacchetti, C.
Nappi, G.
Riboldazzi, G.
Bono, G.
Comi, C.
Padovani, A.
Borroni, B.
Raudino, F.
Fincati, E.
Bertolasi, L.
Tinazzi, M.
Bonizzato, A.
Ferracci, C.
Libera, A. Dalla
Marini, P.
Metadata
Show full item recordAbstract
ObjectiveDNAJC6 mutations were recently described in two families with autosomal recessive juvenile parkinsonism (onset age<11), prominent atypical signs, poor or absent response to levodopa, and rapid progression (wheelchair-bound within approximate to 10 years from onset). Here, for the first time, we report DNAJC6 mutations in early-onset Parkinson's disease (PD).
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