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PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease.
Beecham GW, Dickson DW, Scott WK, Martin ER, Schellenberg G, Nuytemans K, Larson EB, Buxbaum JD, Trojanowski JQ, Van Deerlin VM, Hurtig HI, Mash DC, Beach TG, Troncoso JC, Pletnikova O, Frosch MP, Ghetti B, Foroud TM, Honig LS, Marder K, Vonsattel JP, Goldman SM, Vinters HV, Ross OA, Wszolek ZK, Wang L, Dykxhoorn DM, Pericak-Vance MA, Montine TJ, Leverenz JB, Dawson TM, Vance JM. Beecham GW, et al. Among authors: vonsattel jp. Neurology. 2015 Mar 10;84(10):972-80. doi: 10.1212/WNL.0000000000001332. Epub 2015 Feb 6. Neurology. 2015. PMID: 25663231 Free PMC article.
Huntington's disease.
Grove M, Vonsattel JP, Mazzoni P, Marder K. Grove M, et al. Among authors: vonsattel jp. Sci Aging Knowledge Environ. 2003 Oct 29;2003(43):dn3. doi: 10.1126/sageke.2003.43.dn3. Sci Aging Knowledge Environ. 2003. PMID: 14586062
Association of glucocerebrosidase mutations with dementia with lewy bodies.
Clark LN, Kartsaklis LA, Wolf Gilbert R, Dorado B, Ross BM, Kisselev S, Verbitsky M, Mejia-Santana H, Cote LJ, Andrews H, Vonsattel JP, Fahn S, Mayeux R, Honig LS, Marder K. Clark LN, et al. Among authors: vonsattel jp. Arch Neurol. 2009 May;66(5):578-83. doi: 10.1001/archneurol.2009.54. Arch Neurol. 2009. PMID: 19433657 Free PMC article.
Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes.
Jun G, Naj AC, Beecham GW, Wang LS, Buros J, Gallins PJ, Buxbaum JD, Ertekin-Taner N, Fallin MD, Friedland R, Inzelberg R, Kramer P, Rogaeva E, St George-Hyslop P; Alzheimer's Disease Genetics Consortium; Cantwell LB, Dombroski BA, Saykin AJ, Reiman EM, Bennett DA, Morris JC, Lunetta KL, Martin ER, Montine TJ, Goate AM, Blacker D, Tsuang DW, Beekly D, Cupples LA, Hakonarson H, Kukull W, Foroud TM, Haines J, Mayeux R, Farrer LA, Pericak-Vance MA, Schellenberg GD. Jun G, et al. Arch Neurol. 2010 Dec;67(12):1473-84. doi: 10.1001/archneurol.2010.201. Epub 2010 Aug 9. Arch Neurol. 2010. PMID: 20697030 Free PMC article.
Polyamine pathway contributes to the pathogenesis of Parkinson disease.
Lewandowski NM, Ju S, Verbitsky M, Ross B, Geddie ML, Rockenstein E, Adame A, Muhammad A, Vonsattel JP, Ringe D, Cote L, Lindquist S, Masliah E, Petsko GA, Marder K, Clark LN, Small SA. Lewandowski NM, et al. Among authors: vonsattel jp. Proc Natl Acad Sci U S A. 2010 Sep 28;107(39):16970-5. doi: 10.1073/pnas.1011751107. Epub 2010 Sep 13. Proc Natl Acad Sci U S A. 2010. PMID: 20837543 Free PMC article.
SORCS1 alters amyloid precursor protein processing and variants may increase Alzheimer's disease risk.
Reitz C, Tokuhiro S, Clark LN, Conrad C, Vonsattel JP, Hazrati LN, Palotás A, Lantigua R, Medrano M, Z Jiménez-Velázquez I, Vardarajan B, Simkin I, Haines JL, Pericak-Vance MA, Farrer LA, Lee JH, Rogaeva E, George-Hyslop PS, Mayeux R. Reitz C, et al. Among authors: vonsattel jp. Ann Neurol. 2011 Jan;69(1):47-64. doi: 10.1002/ana.22308. Ann Neurol. 2011. PMID: 21280075 Free PMC article.
306 results