View Author
mutation family patient disease study parkinsonism parkinson university analysis neurology hemangioblastoma tumor department seizure region c .1366c parkin park 7 italian italy autosomal gigyf table allele control park 6 protein linkage .1366c carrier recessive hospital marker early-onset chromosome mutation carriers 1 mrna levels locus level t mutation germline onset vhl gene brain cerebellar hemangioblastoma polymorphism park 7 region sample lobe epilepsy epilepsy vhl disease cerebellar park 7 locus suppressor neurol individual 1 mutations netherland bonifati status parkinson disease expression rotterdam family history parkin gene variant genet neurology vol 51 1366 t allele genomic dna hippel-lindau status epilepticus genomic factor ar-ep polymerase chain reaction vhl gene mutations von hippel-lindau disease parkin gene mutations history
5 Most Recent Publications
|
GIGYF2 mutations are not a frequent cause of familial Parkinson's disease
(Article)
Fonzo, A. di Fabrizio, E. Horstink, M. Abbruzzese, G. Borroni, B. Cossu, G. Libera, A.D. Fabbrini, G. Guidi, M. Mari, M. de Lopiano, L. Martignoni, E. Thomas, A. Marini, P. Onofrj, M. Padovani, A. Stocchi, F. Toni, V. Sampaio, C. Barbosa, E.R. Meco, G. The Italian Parkinson Genetics Network, None Oostra, B.A. Fincati, E. Bonifati, V. Marconi, R. Tinazzi, M. Breedveld, G.J. Simons, E.J. Chien, H.F. Ferreira, J.J. |
2009-11-05
|
|
Biological effects of the PINK1 c.1366C>T mutation: Implications in Parkinson disease pathogenesis
(Article)
Grünewald, A. Breedveld, G.J. Lesage, S. Durr, A. Binkofski, F. Siebner, H. Münchau, A. Brice, A. Oostra, B.A. Klein, C. Bonifati, V. Lohmann-Hedrich, K. Rohe, C.F. König, I.R. Hagenah, J. Vanacore, N. Meco, G. Antonini, A. Goldwurm, S. |
2007-04-01
|
|
DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism
(Article)
Bonifati, V. Squitieri, F. Rizzu, P. Krieger, E. Vanacore, N. Swieten, J.C. van Brice, A. Duijn, C.M. van Meco, G. Heutink, P. Oostra, B.A. |
2003-10-01
|
|
Autosomal recessive early onset parkinsonism is linked to three loci: PARK 2, PARK 6 and PARK7
(Article)
Bonifati, V. Vanacore, N. Montagna, P. Gallai, V. Duijn, C.M. van Meco, G. Heutink, P. Oostra, B.A. Rizzu, P. Swieten, J.C. van Dekker, M.C.J. Fabbrini, G. Squitieri, F. Marconi, R. Antonini, A. Brustenghi, P. Libera, A. dalla Mari, M. de Stocchi, F. |
2002-09-01
|
|
Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset
(Article)
Bonifati, V. Breedveld, G.J. Oostra, B.A. Meco, G. Heutink, P. Rizzu, P. Squitieri, F. Vanacore, N. Brustenghi, P. Harhangi, B.S. Montagna, P. Canella, M. Fabbrini, C.G. Duijn, C.M. van |
2002-02-11
|