The PaGeR Study: Parkinson's Genetic Research

Lorenzo-Betancor O, Lin YH, Samii A, Jayadev S, Kim HM, Longfellow K, Yearout D, Mata IF, Zabetian CP (2020). Novel compound heterozygous FBXO7 mutations in a family with early onset Parkinson’s disease. Parkinsonism Relat Disord 80:142-147 (PMC8110511)

2020

Velez-Pardo C, Lorenzo-Betancor O, Jimenez-Del-Rio M, Moreno S, Lopera F, Cornejo-Olivas M, Torres L, Inca-Martinez M, Mazzetti P, Cosentino C, Yearout D, Waldherr SM, Zabetian CP, Mata IF (2019). The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru. Parkinsonism Relat Disord 63:204-208

2019

Mata IF, Johnson C, Leverenz JB, Weintraub D, Trojanowski JQ, Van Deerlin VM, Ritz B, Rausch R, Factor S, Wood-Siverio C, Quinn JF, Chung KA, Peterson-Hiller AL, Espay AJ, Revilla FJ, Devoto J, Yearout D, Hu S, Cholerton BA, Montine TJ, Edwards KL, Zabetian CP (2017). Large-scale exploratory genetic analysis of cognitive impairment in Parkinson’s disease. Neurobiol Aging 56: 211.e1-e211.e7. (PMC5536182)

2017

Hill-Burns EM, Debelius JW, Morton JT, Wissemann WT, Lewis MR, Wallen ZD, Peddada SD, Factor SA, Molho E, Zabetian CP, Knight R, Payami H (2017). Parkinson's disease and Parkinson's disease medications have distinct signatures of the gut microbiome. Mov Disord 32:739-749 (PMC5469442)

2017

Davis MY, Johnson C, Leverenz JB, Weintraub D, Trojanowski JQ, Chen-Plotkin A, Van Deerlin VM, Quinn JF, Chung KA, Peterson-Hiller AL, Rosenthal LS, Dawson TM, Albert MS, Goldman JG, Stebbins GT, Bernard B, Wszolek ZK, Ross OA, Dickson DW, Eidelberg D, Mattis PJ, Niethammer M, Yearout D, Hu S, Cholerton BA, Smith M, Mata IF, Montine TJ, Edwards KL, Zabetian CP (2016). Association of GBA mutations and the E326K Polymorphism with motor and cognitive progression in Parkinson disease. JAMA Neurol 73:1217-1224 (PMC5056861)

2016

Mata IF, Davis MY, Lopez AN, Dorschner MO, Martinez E, Yearout D, Cholerton BA, Hu SC, Edwards KL, Bird TD, Zabetian CP (2016). The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot. Am J Med Genet B Neuropsychiatr Genet 171:925-930 (PMC5028305)

2016

Hill-Burns EM, Ross OA, Wissemann WT, Soto-Ortolaza AI, Zareparsi S, Siuda J, Lynch T, Wszolek ZK, Silburn PA, Mellick GD, Ritz B, Scherzer CR, Zabetian CP, Factor SA, Breheny PJ, Payami H (2016). Identification of genetic modifiers of age-at-onset for familial Parkinson's disease. Hum Mol Genet 25:3849-3862 (PMC5216611)

2016

Mata IF, Leverenz JB, Weintraub D, Trojanowski JQ, Chen-Plotkin A,Van Deerlin VM, Ritz B, Rausch R, Factor SA, Wood-Siverio C, Quinn JF, Chung KA, Peterson-Hiller AL, Goldman JG, Stebbins GT, Bernard B, Espay AJ, Revilla FJ, Devoto J, Rosenthal LS, Dawson TM, Albert MS, Tsuang D, Huston H, Yearout D, Hu SC, Cholerton BA, Montine TJ, Edwards KL, Zabetian CP (2016). GBA variants are associated with a distinct pattern of cognitive deficits in Parkinson disease. Mov Disord 31:95-102 (PMC4724255)

2016

Mata IF, Jang Y, Kim CH, Hanna DS, Dorschner MO, Samii A, Agarwal P, Roberts JW, Klepitskaya O, Shprecher DR, Chung KA, Factor SA, Espay AJ, Revilla FJ, Higgins DS, Litvan I, Leverenz JB, Yearout D, Inca-Martinez M, Martinez E, Thompson TR, Cholerton BA, Hu SC, Edwards KL, Kim KS, Zabetian CP (2015). The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease. Mol Neurodegener 10, 50 (PMC4581468)

2015

Srivatsal S, Cholerton BA, Leverenz JB, Wszolek ZK, Uitti RJ, Dickson DW, Weintraub D, Trojanowski JQ, Van Deerlin VM, Quinn JF, Chung KA, Peterson AL, Factor SA, Wood-Siverio C, Goldman JG, Stebbins GT, Bernard B, Ritz B, Rausch R, Espay AJ, Revilla FJ, Devoto J, Rosenthal LS, Dawson TM, Albert MS, Mata IF, Hu SC, Montine KS, Johnson C, Montine TJ, Edwards KL, Zhang J, Zabetian CP (2015). Cognitive profile of LRRK2-related Parkinson’s disease. Mov Disord 30:728-733 (PMC4397146)

2015

Swanson CR, Li K, Unger TL, Gallagher MD, Van Deerlin VM, Agarwal P, Leverenz J, Roberts JW, Samii A, Goldmann Gross R, Hurtig H, Rick J, Weintraub D, Trojanowski JQ, Zabetian CP, Chen-Plotkin A (2015). ApoA1 levels correlate with APOA1 genotype and affect Parkinson's disease risk. Mov Disord 30:805-812 (PMC4362847)

2015

Cornejo MR, Torres L, Mata I, Mazzetti PE, Rivas D, Cosentino C, Inca-Martinez M,Cuba JM, Zabetian CP, Leverenz JB (2015). A Peruvian family with a novel PARK2 mutation: Clinical and Pathological Characteristics. Parkinsonism Relat Disord 21:444-448 (PMC4527610)

2015

Mata IF, Leverenz JB, Weintraub D, Trojanowski JQ, Hurtig H, Van Deerlin VM, Ritz B, Rausch R, Rhodes SL, Factor SA, Wood-Siverio C, Quinn JF, Chung KA, Peterson AL, Espay AJ, Revilla FJ, Devoto J, Hu SC, Cholerton BA, Wan JY, Montine TJ, Edwards KL, Zabetian CP (2014). APOE, MAPT, SNCA, and cognitive performance in Parkinson disease. JAMA Neurol 71:1405-1412 (PMC4227942)

2014

Hill-Burns EM, Wissemann WT, Hamza TH, Factor SA, Zabetian CP, Payami P (2014). Identification of a novel Parkinson's disease locus via stratified genome-wide association study. BMC Genomics 15:118 (doi:10.1186/1471-2164-15-118) (PMC3925254)

2014

Wan JY, Edwards KL, Hutter CM, Mata IF, Samii A, Roberts JW, Agarwal P, Checkoway H, Farin FM, Yearout D, Zabetian CP (2014). Association mapping of the PARK10 region for Parkinson's disease susceptibility genes. Parkinsonism Relat Disord 20:93-98 (PMC3946853)

2014

Wissemann WT, Hill-Burns EM, Zabetian CP, Factor SA, Patsopoulos N, Hoglund B, Holcomb C, Donahue RJ, Thomson G, Erlich H, Payami H (2013). Association of Parkinson's disease with structural and regulatory variants in the HLA region. Am J Hum Genet 93:984-993 (PMC3824116)

2016

Chahine LM, Qiang JK, Ashbridge E, Minger J, Yearout D, Horn S, Colcher A, Hurtig H, Lee VM, Van Deerlin VM, Leverenz JB, Siderowf A, Trojanowski JQ, Zabetian CP, Chen-Plotkin A (2013). Clinical and biochemical differences in Parkinson’s patients with and without GBA mutations. JAMA Neurol 70:852-858 (PMC3762458)

2013

Dombroski BA, Galasko DR, Mata IF, Zabetian CP, Craig UK, Garruto RM, Oyanagi K, Schellenberg GD (2013) C9orf72 hexanucleotide repeat expansion and Guam amyotrophic lateral sclerosis/parkinsonism dementia complex. JAMA Neurol 70:742-745 (PMC3771869)

2013

Korvatska O, Strand NS, Berndt JD, Strovas T, Chen D, Leverenz JB, Kiianitsa K, Mata IF, Karakoc E, Greenup JL, Bonkowski E, Chuang J, Moon RT, Eichler EE, DA Nickerson, Zabetian CP, Kraemer BC, Bird TD, Raskind WH (2013) Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). Hum Mol Genet 22:3259-3268 (PMC3723311)

2013

Tsuang D, Leverenz JB, Lopez OL, Hamilton RL, Bennett DA, Schneider JA, Buchman AS, Larson EB, Crane PK, Kaye JA, Kramer P, Woltjer R, Trojanowski JQ, Weintraub D, Chen-Plotkin AS, Rick J, Irwin D, Schellenberg GD, Watson GS, Kukull W, Nelson PT, Jicha GA, Neltner JH, Galasko D, Masliah E, Quinn JF, Chung KA, Yearout D, Mata IF, Wan JY, Edwards KL, Montine TJ, Zabetian CP. APOE ε4 increases risk for dementia in pure synucleinopathies (2013) JAMA Neurol 70:223-228 (PMC3580799)

2013

Hall TO, Wan JY, Mata IF, Kerr KF, Snapinn KW, Samii A, Roberts JW, Agarwal P, Zabetian CP, Edwards KL (2013) Risk prediction for complex diseases: application to Parkinson's disease. Genet Med 15:361-367 (PMC3687522)

2013

Hill-Burns EM, Singh N, Ganguly P, Hamza TH, Montimurro J, Kay DM, Yearout D, Sheehan P, Frodey K, Mclear JA, Feany MB, Hanes SD, Wolfgang WJ, Zabetian CP, Factor SA, Payami H (2013) A genetic basis for the variable effect of smoking/nicotine on Parkinson’s disease. Pharmacogenomics J 13:530-537 (PMC3538110)

2013

Mata IF, Alvarez V, Ribacoba R, Infante J, Sierra M, Gómez-Garre P, Mir P, Waldherr S, Yearout D, Latin American Research Consortium on the Genetics of Parkinson’s Disease, Zabetian CP (2013) Novel Lrrk2-p.S1761R Mutation is not a common cause of Parkinson’s disease in Spain. Mov Disord 28:248 (PMC3686294)

2013

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 (2012) Meta-analysis of parkinson's disease: Identification of a novel locus, RIT2. Ann Neurol 71:370-384 (PMC3354734)

2012

Lill CM, Roehr JT, McQueen MB, Kavvoura FK, Bagade S, Schjeide BM, 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 JC, Maraganore DM, Martin ER, Martinez M, Myers RH, Nalls MA, Pankratz N, Payami H, Satake W, Scott WK, Sharma M, Singleton AB, Stefansson K, Toda T, Tung JY, Vance J, Wood NW, Zabetian CP, Young P, Tanzi RE, Khoury MJ, Zipp F, Lehrach H, Ioannidis JP, Bertram L (2012) Comprehensive research synopsis and systematic meta-analyses in parkinson's disease genetics: The pdgene database. PLoS Genet 8: e1002548 (PMC3305333)

2012

Tsuang D, Leverenz JB, Lopez OL, Hamilton RL, Bennett DA, Schneider JA, Buchman AS, Larson EB, Crane PK, Kaye JA, Kramer P, Woltjer R, Kukull W, Nelson PT, Jicha GA, Neltner JH, Galasko D, Masliah E, Trojanowski JQ, Schellenberg GD, Yearout D, Huston H, Fritts-Penniman A, Mata IF, Wan JY, Edwards KL, Montine TJ, Zabetian CP (2012) GBA mutations increase risk for Lewy body disease with and without Alzheimer’s disease pathology. Neurology 79:1944-1950 (PMC3484986)

2012

Mata IF, Checkoway H, Hutter CM, Samii A, Roberts JW, Kim HM, Agarwal P, Alvarez V, Ribacoba R, Pastor P, Lorenzo-Betancor O, Infante J, Sierra M, Gomez-Garre P, Mir P, Ritz B, Rhodes SL, Colcher A, Van Deerlin V, Chung KA, Quinn JF, Yearout D, Martinez E, Farin FM, Wan JY, Edwards KL, Zabetian CP (2012) Common variation in the LRRK2 gene is a risk factor for Parkinson’s disease. Mov Disord 27:1822-1825 (PMC3536918)

2012

Hill-Burns EM, Hamza TH, Zabetian CP, Factor SA, Payami H (2011) An attempt to replicate interaction between coffee and CYP1A2 gene in connection to Parkinson's disease. Eur J Neurol 18:e107-e108

2011

Hamza TH, 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 (2011) Genome-wide gene-environment study identifies glutamate receptor gene GRIN2A as a Parkinson's disease modifier gene via interaction with coffee. PLoS Genet 7:e1002237 (PMC3158052)

2011

Snapinn KW, Larson EB, Kawakami H, Ujike H, Borenstein AR, Izumi Y, Kaji R, Maruyama H, Mata IF, Morino H, Oda M, Tsuang DW, Yearout D, Edwards KL, Zabetian CP (2011) The UCHL1 S18Y polymorphism and Parkinson's disease in a Japanese population. Parkinsonism Relat Disord 17:473-475

2011

Mata IF, Yearout D, Alvarez V, Coto E, de Mena L, Ribacoba R, Lorenzo-Betancor O, Samaranch L, Pastor P, Cervantes S, Infante J, Garcia-Gorostiaga I, Sierra M, Combarros O, Snapinn KW, Edwards KL, Zabetian CP (2011) Replication of MAPT and SNCA, but not PARK16-18, as susceptibility genes for Parkinson’s disease. Mov Disord 26:819-823

2011