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2005 2
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Page 1
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.
Marongiu R, Ferraris A, Ialongo T, Michiorri S, Soleti F, Ferrari F, Elia AE, Ghezzi D, Albanese A, Altavista MC, Antonini A, Barone P, Brusa L, Cortelli P, Martinelli P, Pellecchia MT, Pezzoli G, Scaglione C, Stanzione P, Tinazzi M, Zecchinelli A, Zeviani M, Cassetta E, Garavaglia B, Dallapiccola B, Bentivoglio AR, Valente EM; Italian PD Study Group. Marongiu R, et al. Hum Mutat. 2008 Apr;29(4):565. doi: 10.1002/humu.20719. Hum Mutat. 2008. PMID: 18330912 Free article.
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. 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.
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. 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
BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study.
Karamohamed S, Latourelle JC, Racette BA, Perlmutter JS, Wooten GF, Lew M, Klein C, Shill H, Golbe LI, Mark MH, Guttman M, Nicholson G, Wilk JB, Saint-Hilaire M, DeStefano AL, Prakash R, Tobin S, Williamson J, Suchowersky O, Labell N, Growdon BN, Singer C, Watts R, Goldwurm S, Pezzoli G, Baker KB, Giroux ML, Pramstaller PP, Burn DJ, Chinnery P, Sherman S, Vieregge P, Litvan I, Gusella JF, Myers RH, Parsian A. Karamohamed S, et al. Neurology. 2005 Dec 13;65(11):1823-5. doi: 10.1212/01.wnl.0000187075.81589.fd. Neurology. 2005. PMID: 16344533
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. Eur J Hum Genet. 2006 Mar;14(3):322-31. doi: 10.1038/sj.ejhg.5201539. Eur J Hum Genet. 2006. PMID: 16333314
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.
Di Fonzo A, Chien HF, Socal M, Giraudo S, Tassorelli C, Iliceto G, Fabbrini G, Marconi R, Fincati E, Abbruzzese G, Marini P, Squitieri F, Horstink MW, Montagna P, Libera AD, Stocchi F, Goldwurm S, Ferreira JJ, Meco G, Martignoni E, Lopiano L, Jardim LB, Oostra BA, Barbosa ER; Italian Parkinson Genetics Network; Bonifati V. Di Fonzo A, et al. Neurology. 2007 May 8;68(19):1557-62. doi: 10.1212/01.wnl.0000260963.08711.08. Neurology. 2007. PMID: 17485642
Analysis of ferritin genes in Parkinson disease.
Foglieni B, Ferrari F, Goldwurm S, Santambrogio P, Castiglioni E, Sessa M, Volontè MA, Lalli S, Galli C, Wang XS, Connor J, Sironi F, Canesi M, Biasiotto G, Pezzoli G, Levi S, Ferrari M, Arosio P, Cremonesi L. Foglieni B, et al. Clin Chem Lab Med. 2007;45(11):1450-6. doi: 10.1515/CCLM.2007.307. Clin Chem Lab Med. 2007. PMID: 17970701
18 results