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DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease.
Hedrich K, Djarmati A, Schäfer N, Hering R, Wellenbrock C, Weiss PH, Hilker R, Vieregge P, Ozelius LJ, Heutink P, Bonifati V, Schwinger E, Lang AE, Noth J, Bressman SB, Pramstaller PP, Riess O, Klein C. Hedrich K, et al. Among authors: bonifati v. Neurology. 2004 Feb 10;62(3):389-94. doi: 10.1212/01.wnl.0000113022.51739.88. Neurology. 2004. PMID: 14872018
A susceptibility locus for Parkinson's disease maps to chromosome 2p13.
Gasser T, Müller-Myhsok B, Wszolek ZK, Oehlmann R, Calne DB, Bonifati V, Bereznai B, Fabrizio E, Vieregge P, Horstmann RD. Gasser T, et al. Among authors: bonifati v. Nat Genet. 1998 Mar;18(3):262-5. doi: 10.1038/ng0398-262. Nat Genet. 1998. PMID: 9500549
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. 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: bonifati v. Neurology. 1999 Oct 22;53(7):1415-21. doi: 10.1212/wnl.53.7.1415. Neurology. 1999. PMID: 10534244
Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36.
van Duijn CM, Dekker MC, Bonifati V, Galjaard RJ, Houwing-Duistermaat JJ, Snijders PJ, Testers L, Breedveld GJ, Horstink M, Sandkuijl LA, van Swieten JC, Oostra BA, Heutink P. van Duijn CM, et al. Among authors: bonifati v. Am J Hum Genet. 2001 Sep;69(3):629-34. doi: 10.1086/322996. Epub 2001 Jul 2. Am J Hum Genet. 2001. PMID: 11462174 Free PMC article.
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
242 results