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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: bonifati v. 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
The parkin gene and its phenotype. Italian PD Genetics Study Group, French PD Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
Bonifati V, De Michele G, Lücking CB, Dürr A, Fabrizio E, Ambrosio G, Vanacore N, De Mari M, Marconi R, Capus L, Breteler MM, Gasser T, Oostra B, Wood N, Agid Y, Filla A, Meco G, Brice A; Italian PD Genetics Study Group, French PD Genetics Study Group, European Consortium on Genetic Susceptibility in PD. Bonifati V, et al. Neurol Sci. 2001 Feb;22(1):51-2. doi: 10.1007/s100720170042. Neurol Sci. 2001. PMID: 11487197
PARK6-linked parkinsonism occurs in several European families.
Valente EM, Brancati F, Ferraris A, Graham EA, Davis MB, Breteler MM, Gasser T, Bonifati V, Bentivoglio AR, De Michele G, Dürr A, Cortelli P, Wassilowsky D, Harhangi BS, Rawal N, Caputo V, Filla A, Meco G, Oostra BA, Brice A, Albanese A, Dallapiccola B, Wood NW; European Consortium on Genetic Susceptibility in Parkinson's Disease. Valente EM, et al. Among authors: bonifati v. Ann Neurol. 2002 Jan;51(1):14-8. Ann Neurol. 2002. PMID: 11782979
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
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: bonifati v. Mov Disord. 2005 Apr;20(4):424-431. doi: 10.1002/mds.20343. Mov Disord. 2005. PMID: 15584030
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. Among authors: bonifati v. Lancet. 2005 Jan 29-Feb 4;365(9457):412-5. doi: 10.1016/S0140-6736(05)17829-5. Lancet. 2005. PMID: 15680456
242 results