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scopus: 16162076500

Marconi, R.

( R. Marconi)


mutation family gigyf italy university parkinsonism disease parkinson study parkin neurology patient department hospital variant italian region autosomal park 7 park 6 protein control gigyf 2 mutations cause bonifati netherland genetic locus parkin gene analysis park 11 locus coding gigyf 2 population parkinson disease table pd patients polymorphism chromosome recessive erasmu institute proband identi fied park 11 gene p.asn arep forms onset pd cases missense mutations marker bonifati v park 2 locus gigyf 2 gene arep families parkin gene mutations gigyf 2 variants onset parkinsonism p.asn 56ser mutation rotterdam nucleotide inheritance linkage genet division missense forty-six di fonzo identi ubiquitin-ligase activity shults c verona erasmus mc 457thr neurology division michele neurol italian family / parkinsonism forty-six families




2 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
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