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Page 1
DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients.
Sironi F, Primignani P, Ricca S, Tunesi S, Zini M, Tesei S, Cilia R, Pezzoli G, Seia M, Goldwurm S. Sironi F, et al. Among authors: zini m. Neurosci Lett. 2013 Dec 17;557 Pt B(PB):165-70. doi: 10.1016/j.neulet.2013.10.048. Epub 2013 Oct 28. Neurosci Lett. 2013. PMID: 24176883 Free PMC article.
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: zini m. J Med Genet. 2005 Nov;42(11):e65. doi: 10.1136/jmg.2005.035568. J Med Genet. 2005. PMID: 16272257 Free PMC article.
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: zini m. 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
Parkin analysis in early onset Parkinson's disease.
Sironi F, Primignani P, Zini M, Tunesi S, Ruffmann C, Ricca S, Brambilla T, Antonini A, Tesei S, Canesi M, Zecchinelli A, Mariani C, Meucci N, Sacilotto G, Cilia R, Isaias IU, Garavaglia B, Ghezzi D, Travi M, Decarli A, Coviello DA, Pezzoli G, Goldwurm S. Sironi F, et al. Among authors: zini m. Parkinsonism Relat Disord. 2008;14(4):326-33. doi: 10.1016/j.parkreldis.2007.10.003. Epub 2007 Nov 19. Parkinsonism Relat Disord. 2008. PMID: 18519021
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study.
Healy DG, Falchi M, O'Sullivan SS, Bonifati V, Durr A, Bressman S, Brice A, Aasly J, Zabetian CP, Goldwurm S, Ferreira JJ, Tolosa E, Kay DM, Klein C, Williams DR, Marras C, Lang AE, Wszolek ZK, Berciano J, Schapira AH, Lynch T, Bhatia KP, Gasser T, Lees AJ, Wood NW; International LRRK2 Consortium. Healy DG, et al. Lancet Neurol. 2008 Jul;7(7):583-90. doi: 10.1016/S1474-4422(08)70117-0. Epub 2008 Jun 6. Lancet Neurol. 2008. PMID: 18539534 Free PMC article.
The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study.
Latourelle JC, Sun M, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts RL, Guttman M, Racette BA, Perlmutter JS, Ahmed A, Shill HA, Singer C, Goldwurm S, Pezzoli G, Zini M, Saint-Hilaire MH, Hendricks AE, Williamson S, Nagle MW, Wilk JB, Massood T, Huskey KW, Laramie JM, DeStefano AL, Baker KB, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. Latourelle JC, et al. Among authors: zini m. BMC Med. 2008 Nov 5;6:32. doi: 10.1186/1741-7015-6-32. BMC Med. 2008. PMID: 18986508 Free PMC article.
alpha-Synuclein multiplication analysis in Italian familial Parkinson disease.
Sironi F, Trotta L, Antonini A, Zini M, Ciccone R, Della Mina E, Meucci N, Sacilotto G, Primignani P, Brambilla T, Coviello DA, Pezzoli G, Goldwurm S. Sironi F, et al. Among authors: zini m. Parkinsonism Relat Disord. 2010 Mar;16(3):228-31. doi: 10.1016/j.parkreldis.2009.09.008. Epub 2009 Oct 14. Parkinsonism Relat Disord. 2010. PMID: 19833540
153 results