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Page 1
Novel GCH1 variant in Dopa-responsive dystonia and Parkinson's disease.
Lewthwaite AJ, Lambert TD, Rolfe EB, Olgiati S, Quadri M, Simons EJ, Morrison KE, Bonifati V, Nicholl DJ. Lewthwaite AJ, et al. Among authors: bonifati v. Parkinsonism Relat Disord. 2015 Apr;21(4):394-7. doi: 10.1016/j.parkreldis.2015.01.004. Epub 2015 Jan 14. Parkinsonism Relat Disord. 2015. PMID: 25634433 Free PMC article.
A study of five candidate genes in Parkinson's disease and related neurodegenerative disorders. European Study Group on Atypical Parkinsonism.
Nicholl DJ, Bennett P, Hiller L, Bonifati V, Vanacore N, Fabbrini G, Marconi R, Colosimo C, Lamberti P, Stocchi F, Bonuccelli U, Vieregge P, Ramsden DB, Meco G, Williams AC. Nicholl DJ, et al. Among authors: bonifati v. Neurology. 1999 Oct 22;53(7):1415-21. doi: 10.1212/wnl.53.7.1415. Neurology. 1999. PMID: 10534244
Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.
Bonifati V, Rohé CF, Breedveld GJ, Fabrizio E, De Mari M, Tassorelli C, Tavella A, Marconi R, Nicholl DJ, Chien HF, Fincati E, Abbruzzese G, Marini P, De Gaetano A, Horstink MW, Maat-Kievit JA, Sampaio C, Antonini A, Stocchi F, Montagna P, Toni V, Guidi M, Dalla Libera A, Tinazzi M, De Pandis F, Fabbrini G, Goldwurm S, de Klein A, Barbosa E, Lopiano L, Martignoni E, Lamberti P, Vanacore N, Meco G, Oostra BA; Italian Parkinson Genetics Network. Bonifati V, et al. Neurology. 2005 Jul 12;65(1):87-95. doi: 10.1212/01.wnl.0000167546.39375.82. Neurology. 2005. PMID: 16009891
The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease.
Lu CS, Simons EJ, Wu-Chou YH, Fonzo AD, Chang HC, Chen RS, Weng YH, Rohé CF, Breedveld GJ, Hattori N, Gasser T, Oostra BA, Bonifati V. Lu CS, et al. Among authors: bonifati v. Parkinsonism Relat Disord. 2005 Dec;11(8):521-2. doi: 10.1016/j.parkreldis.2005.09.003. Epub 2005 Oct 26. Parkinsonism Relat Disord. 2005. PMID: 16256409 No abstract available.
The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor.
Goldwurm S, Di Fonzo A, Simons EJ, Rohé CF, Zini M, Canesi M, Tesei S, Zecchinelli A, Antonini A, Mariani C, Meucci N, Sacilotto G, Sironi F, Salani G, Ferreira J, Chien HF, Fabrizio E, Vanacore N, Dalla Libera A, Stocchi F, Diroma C, Lamberti P, Sampaio C, Meco G, Barbosa E, Bertoli-Avella AM, Breedveld GJ, Oostra BA, Pezzoli G, Bonifati V. Goldwurm S, et al. Among authors: bonifati v. J Med Genet. 2005 Nov;42(11):e65. doi: 10.1136/jmg.2005.035568. J Med Genet. 2005. PMID: 16272257 Free PMC article.
Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease.
Di Fonzo A, Tassorelli C, De Mari M, Chien HF, Ferreira J, Rohé CF, Riboldazzi G, Antonini A, Albani G, Mauro A, Marconi R, Abbruzzese G, Lopiano L, Fincati E, Guidi M, Marini P, Stocchi F, Onofrj M, Toni V, Tinazzi M, Fabbrini G, Lamberti P, Vanacore N, Meco G, Leitner P, Uitti RJ, Wszolek ZK, Gasser T, Simons EJ, Breedveld GJ, Goldwurm S, Pezzoli G, Sampaio C, Barbosa E, Martignoni E, Oostra BA, Bonifati V; Italian Parkinson's Genetics Network. Di Fonzo A, et al. Among authors: bonifati v. Eur J Hum Genet. 2006 Mar;14(3):322-31. doi: 10.1038/sj.ejhg.5201539. Eur J Hum Genet. 2006. PMID: 16333314
Evidence for novel loci for late-onset Parkinson's disease in a genetic isolate from the Netherlands.
Bertoli-Avella AM, Dekker MC, Aulchenko YS, Houwing-Duistermaat JJ, Simons E, Testers L, Pardo LM, Rademaker TA, Snijders PJ, van Swieten JC, Bonifati V, Heutink P, van Duijn CM, Oostra BA. Bertoli-Avella AM, et al. Among authors: bonifati v. Hum Genet. 2006 Mar;119(1-2):51-60. doi: 10.1007/s00439-005-0108-7. Epub 2005 Dec 14. Hum Genet. 2006. PMID: 16369765
LRRK2 G2019S mutation and Parkinson's disease: a clinical, neuropsychological and neuropsychiatric study in a large Italian sample.
Goldwurm S, Zini M, Di Fonzo A, De Gaspari D, Siri C, Simons EJ, van Doeselaar M, Tesei S, Antonini A, Canesi M, Zecchinelli A, Mariani C, Meucci N, Sacilotto G, Cilia R, Isaias IU, Bonetti A, Sironi F, Ricca S, Oostra BA, Bonifati V, Pezzoli G. Goldwurm S, et al. Among authors: bonifati v. Parkinsonism Relat Disord. 2006 Oct;12(7):410-9. doi: 10.1016/j.parkreldis.2006.04.001. Epub 2006 Jun 5. Parkinsonism Relat Disord. 2006. PMID: 16750929
242 results