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2009 1
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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. 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
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
Novel parkin mutations detected in patients with early-onset Parkinson's disease.
Bertoli-Avella AM, Giroud-Benitez JL, Akyol A, Barbosa E, Schaap O, van der Linde HC, Martignoni E, Lopiano L, Lamberti P, Fincati E, Antonini A, Stocchi F, Montagna P, Squitieri F, Marini P, Abbruzzese G, Fabbrini G, Marconi R, Dalla Libera A, Trianni G, Guidi M, De Gaetano A, Boff Maegawa G, De Leo A, Gallai V, de Rosa G, Vanacore N, Meco G, van Duijn CM, Oostra BA, Heutink P, Bonifati V; Italian Parkinson Genetics Network, MD. Bertoli-Avella AM, et al. Mov Disord. 2005 Apr;20(4):424-431. doi: 10.1002/mds.20343. Mov Disord. 2005. PMID: 15584030
Autosomal recessive early onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7.
Bonifati V, Dekker MC, Vanacore N, Fabbrini G, Squitieri F, Marconi R, Antonini A, Brustenghi P, Dalla Libera A, De Mari M, Stocchi F, Montagna P, Gallai V, Rizzu P, van Swieten JC, Oostra B, van Duijn CM, Meco G, Heutink P; Italian Parkinson Genetics Network. Bonifati V, et al. Neurol Sci. 2002 Sep;23 Suppl 2:S59-60. doi: 10.1007/s100720200069. Neurol Sci. 2002. PMID: 12548343
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
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