View Author
scopus: 7005955544

Bonifati, V.

(Vincenzo Bonifati)


mutation disease patient parkinson family study parkin parkinsonism protein onset disorder analysis neurol neurology parkin gene control region parkin mutations population brain linkage recessive autosomal variant genet chromosome movement early-onset subject locus tremor group frequency lrrk 2 mutations result bonifati lewy bodies lrrk 2 deletion carrier parkinson disease dystonia table haplotype syndrome cause bonifati v department factor evidence phenotype motor marker university association genetic effect feature alpha-synuclein synuclein symptom identi chapter disord allele parkin gene mutations activity response lrrk 2 gene movement disorders function score 2019ser autosomal recessive sample research pd patients system neuron expression




10 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
The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from Southern Italy (Article)
Criscuolo, C. Rosa, A. de Michele, G. de Guacci, A. Simons, E.J. Breedveld, G.J. Peluso, S. Volpe, G. Filla, A. Oostra, B.A. Bonifati, V.
2011-08-01
Broadening the phenotype of TARDBP mutations: The TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia (Article)
Quadri, M. Cossu, G. Saddi, V. Simons, E.J. Murgia, D. Melis, M. Ticca, A. Oostra, B.A. Bonifati, V.
2011-08-01
Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15) (Article)
Zhao, T. Graaff, E. de Oostra, B.A. Bonifati, V. Breedveld, G.J. Loda, A. Severijnen, L.A. Wouters, C.H. Verheijen, F.W. Dekker, M.C.J. Montagna, P. Willemsen, R.
2011-02-25
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability (Article)
Santoro, L. Breedveld, G.J. Oostra, B.A. Bonifati, V. Manganelli, F. Iodice, R. Pisciotta, C. Nolano, M. Punzo, F. Quarantelli, M. Pappatà, S. Fonzo, A. di
2011-02-01
Olfactory heterogeneity in LRRK2 related Parkinsonism (Article)
Silveira-Moriyama, L. Munhoz, R.P. Bonifati, V. Barbosa, E.R. Teive, H.A. Lees, A.J. , M. de Raskin, S. Rogaeva, E. Bressan, R.A. Felicio, A.C. Barsottini, O.G. Andrade, L.A.F. Chien, H.F.
2010-12-15
Tourette disorder spectrum maps to chromosome 14q31.1 in an Italian kindred (Article)
Breedveld, G.J. Fabbrini, G. Oostra, B.A. Berardelli, A. Bonifati, V.
2010-10-01
Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS-5) in a Dutch kindred (Article)
Sas, A.M.G. Fonzo, A. di Bakker, S.L.M. Simons, E.J. Oostra, B.A. Maat-Kievit, A.A. Boon, A.J.W. Bonifati, V.
2010-08-15
Familial frontotemporal dementia with parkinsonism associated with the progranulin c.C1021T (p.Q341X) mutation (Letter To Editor)
Di Fabio, R. Tessa, A. Simons, E.J. Santorelli, F.M. Casali, C. Serrao, M. Pierelli, F. Bonifati, V.
2010-08-01
Pallidopyramidal disease: A misnomer? (Article)
Horstink, M. Dekker, M.C.J. Montagna, P. Bonifati, V. Warrenburg, B. van de
2010-07-15