Publicaciones

Publicaciones

  • Zeier Z1, Esanov R1, Belle KC2, Volmar CH1, Johnstone AL1, Halley P1, DeRosa BA2, Khoury N1, van Blitterswijk M3, Rademakers R3, Albert J4, Brothers SP1, Wuu J5, Dykxhoorn DM2, Benatar M5, Wahlestedt C6. Bromodomain inhibitors regulate the C9ORF72 locus in ALS. Exp Neurol. 2015 Jun 19. pii: S0014-4886(15)30027-3. doi: 10.1016/j.expneurol.2015.06.017. PMID6099177.
  • Sharp ME1, Caccappolo E, Mejia-Santana H, Tang MX, Rosado L, Orbe Reilly M, Ruiz D, Louis ED, Comella C, Nance M, Bressman S, Scott WK, Tanner C, Waters C, Fahn S, Cote L, Ford B, Rezak M, Novak K, Friedman JH, Pfeiffer R, Payami H, Molho E, Factor SA, Nutt J, Serrano C, Arroyo M, Pauciulo MW, Nichols WC, Clark LN, Alcalay RN, Marder KS. The relationship between obsessive-compulsive symptoms and PARKIN genotype: The CORE-PD study. Mov Disord. 2015 Feb;30(2):278-83. doi: 10.1002/mds.26065. Epub 2014 Nov 12 PMCID 4318772.
  • Nalls MA, Bras J, Hernandez DG, Keller MF, Majounie E, Renton AE, Saad M, Jansen I, Guerreiro R, Lubbe S, Plagnol V, Gibbs JR, Schulte C, Pankratz N, Sutherland M, Bertram L, Lill CM, DeStefano AL, Faroud T, Eriksson N, Tung JY, Edsall C, Nichols N, Brooks J, Arepalli S, Pliner H, Letson C, Heutink P, Martinez M, Gasser T, Traynor BJ, Wood N, Hardy J, Singleton AB; International Parkinson’s Disease Genomics Consortium (IPDGC); Parkinson’s Disease meta-analysis consortium(Collaborator, VANCE JM). NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases. Neurobiol Aging. 2015 Mar;36(3):1605.e7-12. Doi: 10.1016/j.neurobiolaging.2014.07.028.PMID: 25444595
  • Beecham GW, Dickson DW, Scott WK, Martin E R, Schellenberg G, on behalf of the Alzheimer Disease Genetics Consortium, Nuytemans K, Larson EB, Buxbaum JD, Trojanowski JQ, Van Deerlin VM, Hurtig HI, Mash DC, Beach TG, Troncoso J C, Pletnikova O, Frosch MP, Ghetti B, Foroud TM, Honig LS, Marder K, Vonsattel J P, Goldman SM, Vinters HV, Ross OA, Wszolek ZK, Wang L, Dykxhoorn DM, Pericak-Vance MA, Montine TJ, Leverenz JB, Dawson TM, VANCE JM, The PARK 10 locus is a major locus for sporadic, neuropathologically-confirmed Parkinson disease. Neurology. 2015 Mar 10;84(10):972-80. Doi: 10.1212/WNL.0000000000001332. PMID: 25663231
  • Alcalay RN1, Caccappolo E2, Mejia-Santana H2, Tang MX1, Rosado L2, Orbe Reilly M2, Ruiz D2, Louis ED3, Comella CL4, Nance MA5, Bressman SB6, Scott WK7, Tanner CM8, Mickel SF9, Waters CH2, Fahn S2, Cote LJ10, Frucht SJ2, Ford B2, Rezak M11, Novak KE12, Friedman JH13, Pfeiffer RF14, Marsh L15, Hiner B16, Payami H17, Molho E18, Factor SA19, Nutt JG20, Serrano C21, Arroyo M21, Ottman R22, Pauciulo MW23, Nichols WC23, Clark LN24, Marder KS3. Cognitive and motor function in long-duration PARKIN-associated Parkinson disease. JAMA Neurol. 2014 Jan;71(1):62-7. doi: 10.1001/jamaneurol.2013.4498. PMID: 24190026.
  • Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M, Schulte C, Keller MF, Arepalli S, Letson C, Edsall C, Stefansson H, Liu X, Pliner H, Lee JH, Cheng R; International Parkinson’s Disease Genomics Consortium (IPDGC); Parkinson’s Study Group (PSG) Parkinson’s Research: The Organized GENetics Initiative (PROGENI); 23andMe; GenePD; NeuroGenetics Research Consortium (NGRC); Hussman Institute of Human Genomics (HIHG/Vance JM); Ashkenazi Jewish Dataset Investigator; Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE); North American Brain Expression Consortium (NABEC); United Kingdom Brain Expression Consortium (UKBEC); Greek Parkinson’s Disease Consortium; Alzheimer Genetic Analysis Group, Ikram MA, Ioannidis JP, Hadjigeorgiou GM, Bis JC, Martinez M, Perlmutter JS, Goate A, Marder K, Fiske B, Sutherland M, Xiromerisiou G, Myers RH, Clark LN, Stefansson K, Hardy JA, Heutink P, Chen H, Wood NW, Houlden H, Payami H, Brice A, Scott WK, Gasser T, Bertram L, Eriksson N, Foroud T, Singleton AB. Large-scale meta-analysis of genome-wide association data identifies six new risk locifor Parkinson’s disease. Nat Genet. 2014 Sep;46(9):989-93. Doi: 10.1038/ng.3043. PMCID: PMC4146673
  • Pichler I, Del Greco M F, Gögele M, Lill CM, Bertram L, Do CB, Eriksson N, Foroud T, Myers RH; PD GWAS Consortium (Scott WK), Nalls M, Keller MF; International Parkinson’s Disease Genomics Consortium; Wellcome Trust Case Control Consortium 2, Benyamin B, Whitfield JB; Genetics of Iron Status Consortium, Pramstaller PP, Hicks AA, Thompson JR, Minelli C. Serum iron levels and the risk of Parkinson disease: a mendelian randomization study.. PLoS Med. 2013;10(6):e1001462.
  • Nuytemans K, et al. C9ORF72 repeat expansion is a risk factor for Parkinson Disease. The 62nd Annual Meeting of the American Society of Human Genetics (ASHG), San Francisco, CA, November 6-10, 2012 (Platform presentation). Intermediate size repeats for the same repeat that is causal in ALS and FTD is a risk factor for PD. These are rare variants that are not seen easily by sequencing
  • Alcalay RN, Caccappolo E, Mejia-Santana H, Tang MX, Rosado L, Orbe Reilly M, Ruiz D, Ross B, Verbitsky M, Kisselev S, Louis E, Comella C, Colcher A, Jennings D, Nance M, Bressman S, Scott WK, Tanner C, Mickel S, Andrews H, Waters C, Fahn S, Cote L, Frucht S, Ford B, Rezak M, Novak K, Friedman JH, Pfeiffer R, Marsh L, Hiner B, Siderowf A, Payami H, Molho E, Factor S, Ottman R, Clark LN, Marder K. Cognitive performance of GBA mutation carriers with early-onset PD: The CORE-PD study. Neurology. Neurology. 2012 May 1;78(18):1434-40.
  • Pankratz N, Beecham GW, Destefano AL, Dawson TM, Doheny KF, Factor SA, Hamza TH, Hung AY, Hyman BT, Ivinson AJ, Krainc D, Latourelle JC, Clark LN, Marder K, Martin ER, Mayeux R, Ross OA, Scherzer CR, Simon DK, Tanner C, Vance JM, Wszolek ZK, Zabetian CP, Myers RH, Payami H, Scott WK, Foroud T; and the PD GWAS Consortium. Meta-analysis of Parkinson’s Disease: Identification of novel locus, RIT2. Ann Neurol. 2012 Mar; 71(3):370-84. doi: 10.1002/ana.22687.PMID: 22451204
  • Lill CM, Roehr JT, McQueen MB, Kavvoura FK, Bagade S, Schjeide B-MM, Schjeide LM, Meissner E, Zauft U, Allen NC, Liu T, Schilling M, Anderson KJ, Beecham G, Berg D, Biernacka JM, Brice A, DeStefano AL, Do CB, Eriksson N, Factor SA, Farrer MJ, Foroud T, Gasser T, Hamza T, Hardy JA, Heutink P, Hill-Burns EM, Klein C, Latourelle J, Maraganore DM, Martin E, Martinez M, Myers RH, Nalls MA, Pankratz N, Payami H, Satake W, Scott WK, Sharma M, Stefansson K, Singleton AB, Toda T, Tung JY, Vance J, Wood N, Zabetian CP, 23andMe Inc., The Genetic Epidemiology of Parkinson’s Disease (GEO-PD) Consortium, The International Parkinson’s Disease Genomics Consortium (IPDGC), Young P, Tanzi RE, Khouri MJ, Zipp F, Lehrach H, Ioannidis JPA, Bertram L. Comprehensive research synopsis and systematic meta-analyses in Parkinson’s disease genetics: The PDGene Database.. PLos Genetics. 2012 Mar; 8(3):e1002548. Epub 2012 Mar 15. PMCID: PMC3305333.
  • Zuchner S, Dallman J, Wen R, Beecham G, Naj A, Farooq A, Kohli MA, Whitehead PL, Hulme W, Konidari I, Edwards YJ, Cai G, Peter I, Seo D, Buxbaum JD, Haines JL, Blanton S, Young J, Alfonso E, Vance JM, Lam BL, Pericak-Vance MA. Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.. Am J Hum Genet. 2011 Feb 11;88(2):201-6. PMID: 21295283 (Udall supplied control DNA for testing).
  • Srivastava A, Tang MX, Mejia-Santana H, Rosado L, Louis ED, Caccappolo E, Comella C, Colcher A, Siderowf A, Jennings D, Nance M, Bressman S, Scott WK, Tanner C, Mickel S, Andrews H, Waters C, Fahn S, Cote L, Frucht S, Ford B, Alcalay RN, Ross B, Orbe Reilly M, Rezak M, Novak K, Friedman JH, Pfeiffer RD, Marsh L, Hiner B, Merle D, Ottman R, Clark LN, Marder K. The relation between depression and parkin genotype: the CORE-OD Study.. Parkinsonism Relat Disord. 2011 Dec;17(10):740-4. PMCID: PMC3221786 [Available on 2012/12/1].
  • Caccappolo E, Alcalay RN, Mejia-Santana H, Tang MX, Rakitin B, Rosado L, Louis ED, Comella CL, Colcher A, Jennings D, Nance MA, Bressman S, Scott WK, Tanner CM, Mickel SF, Andrews HF, Waters C, Fahn S, Cote LJ, Frucht S, Ford B, Rezak M, Novak K, Friedman JH, Pfeiffer RF, Marsh L, Hiner B, Siderowf AD, Ross BM, Verbitsky M, Kisselev S, Ottman R, Clark LN, Marder KS 2011 Jan J Int Neuropsychol Soc. Neuropsychological Profile of Parkin Mutation Carriers with and without Parkinson Disease: The CORE-PD Study.. 2011 Jan;17(1):91-100. PMID: 21092386
  • Hamza TH1, Chen H, Hill-Burns EM, Rhodes SL, Montimurro J, Kay DM, Tenesa A, Kusel VI, Sheehan P, Eaaswarkhanth M, Yearout D, Samii A, Roberts JW, Agarwal P, Bordelon Y, Park Y, Wang L, Gao J, Vance JM, Kendler KS, Bacanu SA, Scott WK, Ritz B, Nutt J, Factor SA, Zabetian CP, Payami H. Genome-wide gene-environment study identifies glutamate receptor gene GRIN2A as a Parkinson’s disease modifier gene via interaction with coffee. PLoS Genet. 2011 Aug;7(8):e1002237. doi: 10.1371/journal.pgen.1002237. Epub 2011 Aug 18. PMID: 21876681
  • Martins M1, Rosa A, Guedes LC, Fonseca BV, Gotovac K, Violante S, Mestre T, Coelho M, Rosa MM, Martin ER, Vance JM, Outeiro TF, Wang L, Borovecki F, Ferreira JJ, Oliveira SA. Convergence of miRNA expression profiling, α-synuclein interacton and GWAS in Parkinson’s disease. PLoS One. 2011;6(10):e25443. doi: 10.1371/journal.pone.0025443. Epub 2011 Oct 7. PMID: 22003392
  • Alcalay RN, Siderowf A, Ottman R, Caccappolo E, Mejia-Santana H, Tang MX, Rosado L, Louis E, Ruiz D, Waters C, Fahn S, Cote L, Frucht S, Ford B, Orbe-Reilly M, Ross B, Verbitsky M, Kisselev S, Comella C, Colcher A, Jennings D, Nance M, Bressman S, Scott WK, Tanner C, Mickel S, Rezak M, Novak KE, Friedman JH, Pfeiffer R, Marsh L, Hiner B, Clark LN, Marder K. Olfaction in Parkin heterozygotes and compound heterozygotes: the CORE-PD study.. Neurology. 2011 Jan 25;76(4):319-26.
  • Zheng B, Liao Z, Locascio JJ, Lesniak KA, Roderick SS, Watt ML, Eklund AC, Zhang-James Y, Kim PD, Hauser MA, Grünblatt E, Moran LB, Mandel SA, Riederer P, Miller RM, Federoff HJ, Wüllner U, Papapetropoulos S, Youdim MB, Cantuti-Castelvetri I, Young AB, Vance JM, Davis RL, Hedreen JC, Adler CH, Beach TG, Graeber MB, Middleton FA, Rochet JC, Scherzer CR; Global PD Gene Expression (GPEX) Consortium. PGC-1α, a potential therapeutic target for early intervention in Parkinson’s disease.. Sci Transl Med. 2010 Oct 6;2(52):52ra73.
  • Marder K, Tang M–X, Mejia-Santana H, Rosado L, Louis ED, Comella C, Colcher A, Siderowf A, Jennings D, Nance M, Bressman S, Scott WK, Tanner C, Mickel S, Andrews H, Waters C, Fahn S, Ross B, Cote L, Frucht S, Ford B, Alcalay RN, Rezak M, Novak K, Friedman JH, Pfeiffer R, Marsh L, Hiner B, Greg Neils, Verbitsky M, Kisselev S, Caccoppolo E, Ottman R, Clark LN. Predictors of Parkin Mutations in Early Onset Parkinson disease: the CORE-PD Study. Arch Neurol, 2010 67(6):731-38.
  • Shehadeh L, Martin E, Scott W, Yu K, Wang L, Burt A, Guevara A, Singer C, Vance J, and Papapetropoulos S (2009). Finding Blood Biomarkers in Parkinson’s Disease using mRNA, miRNA, and SNP analysis. Nature Biotechnology Short Reports, v20, p57.
  • Nelson S, Hale AB, Granger CB, Haines JL, Jones CJ, Crossman D, Seo D, Gregory Lin PI, Vance JM, Pericak-Vance MA, Martin ER. No gene is an island: the flip-flop phenomenon. Am J Hum Genet. 2007 Mar;80(3):531-8. Erratum in: Am J Hum Genet. 2007 May;80(5):1002.
  • Stenger JE, Xu H, Haynes C, Hauser ER, Pericak-Vance MA, Goldschmidt-Clermont PJ and Vance JM. ““Statistical Viewer: A Tool for Uploading and Integrating Linkage and Association Data into the Ensembl Genome Browser for Display as Plots in “Contig View” and Cyto View. BMC Bioinformatics, 6(1):95, 2005.
  • Li YJ, Oliveira SA, Xu P, Martin ER, Stenger JE, Scherzer CR, Hauser MA, Scott WK, Small GW, Nance MA, Watts RL, Hubble JP, Koller WC, Pahwa R, Stern MB, Hiner BC, Jankovic J, Goetz CG, Mastaglia F, Middleton LT, Roses AD, Saunders AM, Schmechel DE, Gullans SR, Haines JL, Gilbert JR, VANCE JM, Pericak-Vance MA. (2003) Glutathione S-Transferase Omega 1 modifies age-at-onset of Alzheimer Disease and Parkinson Disease. Hum Mol Genet. 12(24): 3259-67.
  • Oliveira SA, Scott WK, Martin ER, Pericak-Vance MA, Vance JM. Frequency of Parkin mutations in late-onset Parkinson disease [reply]. Letter to the Editor, Annals of Neurology 2003; 54:416-417.
  • van der Walt JM, Nicodemus KK, Martin ER, Scott WK, Nance MA, Watts RL, Hubble JP, Haines JL, Koller WC, Lyons K, Pahwa R, Stern MB, Colcher A, Hiner BC, Jankovic J, Ondo WG, Allen Jr FH, Goetz CG, Small GW, Masterman D, Mastaglia F, Stajich JM, McLaurin AC, Middleton LT, Scott BL, Schmechel DE, Pericak-Vance MA, Vance JM (2003) Mitochondrial polymorphisms significantly reduce risk of Parkinson disease. Am J Hum Genet 72:804-811
  • Li Y-J, Zhang L, Speer M, and Martin ER (2002) Evaluation of current methods of testing differential gene expression and beyond. Methods of Microarray Data Analysis II, edited by Simon M. Lin and Kimberly F. Johnson, Kluwer Academic Publishers, page: 185-194.
  • Pericak-Vance MA, Scott WK, Martin ER, Vance JM, Haines JL (2002) Identifying genetic factors in Parkinson disease [reply]. Letter to the Editor, JAMA 287:715-716
  • Li Y-J, Scott WK, Hedges DJ, Zhang F, Gaskell PC, Nance MA, Watts RL, Hubble JP, Koller WC, Pahwa R, Stern MB, Hiner BC, Jankovic J, Allen FA, Goetz CG, Mastaglia F, Stajich JM, Gibson RA, Middleton LT, Saunders AM, Scott BL, Small GW, Nicodemus, KK, Reed AD, Schmechel DE, Welsh-Bohmer KA, Conneally PM, Roses AD, Gilbert JR, Vance JM, Haines JL, Pericak-Vance MA (2002) Age at onset in two common neurodegenerative diseases is genetically controlled. Am J Hum Genet 70:985-993
  • Oliveira SA, Scott WK, Pericak-Vance MA, Vance JM (2001) Dissecting a complex disease using modern techniques of molecular biology. Lab Med 10:594-598
  • Martin ER, Scott WK, Nance MA, Watts RL, Hubble JP, Koller WC, Lyons K, Pahwa R, Stern MB, Colcher A, Hiner BC, Jankovic J, Ondo WG, Allen, Jr FH, Goetz CG, Small GW, Masterman D, Mastaglia F, Laing NG, Stajich JM, Ribble RC, Booze MW, Rogala A, Hauser MA, Zhang F, Gibson RA, Middleton LT, Roses AD, Haines JL, Scott BL, Pericak-Vance MA, Vance JM. Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease. JAMA 286:2245-2250. PMID: 11710889.