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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: stocchi f. J Med Genet. 2005 Nov;42(11):e65. doi: 10.1136/jmg.2005.035568. J Med Genet. 2005. PMID: 16272257 Free PMC article.
The tau gene in progressive supranuclear palsy: exclusion of mutations in coding exons and exon 10 splice sites, and identification of a new intronic variant of the disease-associated H1 haplotype in Italian cases.
Bonifati V, Joosse M, Nicholl DJ, Vanacore N, Bennett P, Rizzu P, Fabbrini G, Marconi R, Colosimo C, Locuratolo N, Stocchi F, Bonuccelli U, De Mari M, Wenning G, Vieregge P, Oostra B, Meco G, Heutink P. Bonifati V, et al. Among authors: stocchi f. Neurosci Lett. 1999 Oct 15;274(1):61-5. doi: 10.1016/s0304-3940(99)00669-2. Neurosci Lett. 1999. PMID: 10530520
A study of five candidate genes in Parkinson's disease and related neurodegenerative disorders. European Study Group on Atypical Parkinsonism.
Nicholl DJ, Bennett P, Hiller L, Bonifati V, Vanacore N, Fabbrini G, Marconi R, Colosimo C, Lamberti P, Stocchi F, Bonuccelli U, Vieregge P, Ramsden DB, Meco G, Williams AC. Nicholl DJ, et al. Among authors: stocchi f. Neurology. 1999 Oct 22;53(7):1415-21. doi: 10.1212/wnl.53.7.1415. Neurology. 1999. PMID: 10534244
Epidemiology of progressive supranuclear palsy. ESGAP Consortium. European Study Group on Atypical Parkinsonisms.
Vanacore N, Bonifati V, Colosimo C, Fabbrini G, De Michele G, Marconi R, Nicholl D, Locuratolo N, Romano S, Talarico G, Stocchi F, Bonuccelli U, Lamberti P, Vieregge P, Meco G; European Study Group on Atypical Parkinsonism (ESGAP). Vanacore N, et al. Among authors: stocchi f. Neurol Sci. 2001 Feb;22(1):101-3. doi: 10.1007/s100720170065. Neurol Sci. 2001. PMID: 11487180
Epidemiology of multiple system atrophy. ESGAP Consortium. European Study Group on Atypical Parkinsonisms.
Vanacore N, Bonifati V, Fabbrini G, Colosimo C, De Michele G, Marconi R, Nicholl D, Locuratolo N, Talarico G, Romano S, Stocchi F, Bonuccelli U, De Mari M, Vieregge P, Meco G; European Study Group on Atypical Parkinsonism (ESGAP). Vanacore N, et al. Among authors: stocchi f. Neurol Sci. 2001 Feb;22(1):97-9. doi: 10.1007/s100720170064. Neurol Sci. 2001. PMID: 11487219
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: stocchi f. Neurol Sci. 2002 Sep;23 Suppl 2:S59-60. doi: 10.1007/s100720200069. Neurol Sci. 2002. PMID: 12548343
Case-control study of multiple system atrophy.
Vanacore N, Bonifati V, Fabbrini G, Colosimo C, De Michele G, Marconi R, Stocchi F, Nicholl D, Bonuccelli U, De Mari M, Vieregge P, Meco G; ESGAP Consortium. Vanacore N, et al. Among authors: stocchi f. Mov Disord. 2005 Feb;20(2):158-63. doi: 10.1002/mds.20303. Mov Disord. 2005. PMID: 15382209
391 results