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Low prevalence of known pathogenic mutations in dominant PD genes: A Swedish multicenter study.
Puschmann A, Jiménez-Ferrer I, Lundblad-Andersson E, Mårtensson E, Hansson O, Odin P, Widner H, Brolin K, Mzezewa R, Kristensen J, Soller M, Rödström EY, Ross OA, Toft M, Breedveld GJ, Bonifati V, Brodin L, Zettergren A, Sydow O, Linder J, Wirdefeldt K, Svenningsson P, Nissbrandt H, Belin AC, Forsgren L, Swanberg M. Puschmann A, et al. Among authors: breedveld gj. Parkinsonism Relat Disord. 2019 Sep;66:158-165. doi: 10.1016/j.parkreldis.2019.07.032. Epub 2019 Jul 31. Parkinsonism Relat Disord. 2019. PMID: 31422003 Free article.
A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease.
Di Fonzo A, Rohé CF, Ferreira J, Chien HF, Vacca L, Stocchi F, Guedes L, Fabrizio E, Manfredi M, Vanacore N, Goldwurm S, Breedveld G, Sampaio C, Meco G, Barbosa E, Oostra BA, Bonifati V; Italian Parkinson Genetics Network. Di Fonzo A, et al. Lancet. 2005 Jan 29-Feb 4;365(9457):412-5. doi: 10.1016/S0140-6736(05)17829-5. Lancet. 2005. PMID: 15680456
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: breedveld gj. 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.
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: breedveld gj. Eur J Hum Genet. 2006 Mar;14(3):322-31. doi: 10.1038/sj.ejhg.5201539. Eur J Hum Genet. 2006. PMID: 16333314
GIGYF2 mutations are not a frequent cause of familial Parkinson's disease.
Di Fonzo A, Fabrizio E, Thomas A, Fincati E, Marconi R, Tinazzi M, Breedveld GJ, Simons EJ, Chien HF, Ferreira JJ, Horstink MW, Abbruzzese G, Borroni B, Cossu G, Dalla Libera A, Fabbrini G, Guidi M, De Mari M, Lopiano L, Martignoni E, Marini P, Onofrj M, Padovani A, Stocchi F, Toni V, Sampaio C, Barbosa ER, Meco G; Italian Parkinson Genetics Network; Oostra BA, Bonifati V. Di Fonzo A, et al. Among authors: breedveld gj. Parkinsonism Relat Disord. 2009 Nov;15(9):703-5. doi: 10.1016/j.parkreldis.2009.05.001. Epub 2009 May 31. Parkinsonism Relat Disord. 2009. PMID: 19482505
105 results