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scopus: 7003605058

Lopiano, L.

(Leonardo Lopiano)


mutation deletion parkin patient family study /duplication parkinson disease gigyf analysis university department deletions /duplications table duplication rearrangement parkinsonism italy neurology genetic netherland haplotype result 4 del +/ hospital breakpoint region variant exon 7 duplication 5-6 del +/ parkin deletions /duplications control deletion /duplication 4 del -/ mlpa results tremor genet gigyf 2 mutations parkin gene exon 4 deletion probe center marker cause bonifati founder founder effect exon rearrangements neurogenetic pcr products +/- allele polymorphic microsatellite markers abi 3730 xl park 11 locus sample coding exon deletions /duplications test family members italian rotterdam technique rigidity polymerase chain reaction gigyf 2 agid y parkinson disease pd patients index patients early-onset 5-6del michele g meco g recessive vieregge p parkin mutations autosomal polymorphism effect




2 Most Recent Publications

Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations (Article)
Elfferich, P.C. Verleun-Mooijman, M.C. Swieten, J.C. van Boon, A.J.W. Engelen, K. van Verschuuren-Bemelmans, C.C. Lesnik-Oberstein, S.A.J. Tassorelli, C. Lopiano, L. Bonifati, V. Dooijes, D. Minkelen, R. van Maat-Kievit, A.A. Warrenburg, B. van de Abdo, W.F. Eshuis, S.A. Leenders, K.L. Hovestadt, A. Zijlmans, J.C.M. Stroy, J.-P.M.
2011-11-01
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