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Page 1
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: dalla libera a. 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
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. Among authors: dalla libera a. Mov Disord. 2005 Apr;20(4):424-431. doi: 10.1002/mds.20343. Mov Disord. 2005. PMID: 15584030
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. Among authors: dalla libera a. Neurology. 2005 Jul 12;65(1):87-95. doi: 10.1212/01.wnl.0000167546.39375.82. Neurology. 2005. PMID: 16009891
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: dalla libera a. J Med Genet. 2005 Nov;42(11):e65. doi: 10.1136/jmg.2005.035568. J Med Genet. 2005. PMID: 16272257 Free PMC article.
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.
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. Among authors: dalla libera a. Neurol Sci. 2002 Sep;23 Suppl 2:S59-60. doi: 10.1007/s100720200069. Neurol Sci. 2002. PMID: 12548343
Phosphorylated 14-3-3zeta protein in the CSF of neuroleptic-treated patients.
Zanusso G, Fiorini M, Farinazzo A, Gelati M, Benedetti MD, Ferrari S, Dalla Libera A, Capaldi S, Monaco HL, Rizzuto N, Monaco S. Zanusso G, et al. Among authors: dalla libera a. Neurology. 2005 May 10;64(9):1618-20. doi: 10.1212/01.WNL.0000160397.81314.84. Neurology. 2005. PMID: 15883327
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