ADGC Publications

Found 27 results
Filters: Author is Trojanowski, John Q  [Clear All Filters]
2022
Hopfner F, Tietz AK, Ruf VC, Ross OA, Koga S, Dickson D, Aguzzi A, Attems J, Beach T, Beller A et al..  2022.  Common Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System Atrophy.. Mov Disord. 37(10):2110-2121.
2021
Kunkle BW, Schmidt M, Klein H-U, Naj AC, Hamilton-Nelson KL, Larson EB, Evans DA, De Jager PL, Crane PK, Buxbaum JD et al..  2021.  Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel: A Meta-analysis.. JAMA Neurol. 78(1):102-113.
2020
Reiman EM, Arboleda-Velasquez JF, Quiroz YT, Huentelman MJ, Beach TG, Caselli RJ, Chen Y, Su Y, Myers AJ, Hardy J et al..  2020.  Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological study.. Nat Commun. 11(1):667.
2019
Wheeler JM, McMillan P, Strovas TJ, Liachko NF, Amlie-Wolf A, Kow RL, Klein RL, Szot P, Robinson L, Guthrie C et al..  2019.  Activity of the poly(A) binding protein MSUT2 determines susceptibility to pathological tau in the mammalian brain.. Sci Transl Med. 11(523)
Cali CP, Patino M, Tai YKit, Ho WYun, McLean CA, Morris CM, Seeley WW, Miller BL, Gaig C, Vonsattel JPaul G et al..  2019.  C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy.. Acta Neuropathol. 138(5):795-811.
Dumitrescu L, Barnes LL, Thambisetty M, Beecham G, Kunkle B, Bush WS, Gifford KA, Chibnik LB, Mukherjee S, De Jager PL et al..  2019.  Sex differences in the genetic predictors of Alzheimer's pathology.. Brain. 142(9):2581-2589.
2018
Deming Y, Dumitrescu L, Barnes LL, Thambisetty M, Kunkle B, Gifford KA, Bush WS, Chibnik LB, Mukherjee S, De Jager PL et al..  2018.  Sex-specific genetic predictors of Alzheimer's disease biomarkers.. Acta Neuropathol. 136(6):857-872.
2017
Deming Y, Li Z, Kapoor M, Harari O, Del-Aguila JL, Black K, Carrell D, Cai Y, Fernandez MVictoria, Budde J et al..  2017.  Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers.. Acta Neuropathol. 133(5):839-856.
Chapuis J, Flaig A, Grenier-Boley B, Eysert F, Pottiez V, Deloison G, Vandeputte A, Ayral A-M, Mendes T, Desai S et al..  2017.  Genome-wide, high-content siRNA screening identifies the Alzheimer's genetic risk factor FERMT2 as a major modulator of APP metabolism.. Acta Neuropathol. 133(6):955-966.
2015
Kouri N, Ross OA, Dombroski B, Younkin CS, Serie DJ, Soto-Ortolaza A, Baker M, Finch NCole A, Yoon H, Kim J et al..  2015.  Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.. Nat Commun. 6:7247.
Wheeler JM, McMillan PJ, Hawk M, Iba M, Robinson L, Xu GJ, Dombroski BA, Jeong D, Dichter MA, Juul H et al..  2015.  High copy wildtype human 1N4R tau expression promotes early pathological tauopathy accompanied by cognitive deficits without progressive neurofibrillary degeneration.. Acta Neuropathol Commun. 3:33.
Beecham GW, Dickson DW, Scott WK, Martin ER, Schellenberg GD, Nuytemans K, Larson EB, Buxbaum JD, Trojanowski JQ, Van Deerlin VM et al..  2015.  PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease.. Neurology. 84(10):972-80.
Wang L-S, Naj AC, Graham RR, Crane PK, Kunkle BW, Cruchaga C, Murcia JDGonzalez, Cannon-Albright L, Baldwin CT, Zetterberg H et al..  2015.  Rarity of the Alzheimer disease-protective APP A673T variant in the United States.. JAMA Neurol. 72(2):209-16.
2014
Naj AC, Jun G, Reitz C, Kunkle BW, Perry W, Park YSon, Beecham GW, Rajbhandary RA, Hamilton-Nelson KL, Wang L-S et al..  2014.  Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study.. JAMA Neurol. 71(11):1394-404.
McMillan CT, Toledo JB, Avants BB, Cook PA, Wood EM, Suh ER, Irwin DJ, Powers J, Olm C, Elman L et al..  2014.  Genetic and neuroanatomic associations in sporadic frontotemporal lobar degeneration.. Neurobiol Aging. 35(6):1473-82.
Beecham GW, Hamilton K, Naj AC, Martin ER, Huentelman M, Myers AJ, Corneveaux JJ, Hardy J, Vonsattel J-P, Younkin SG et al..  2014.  Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias.. PLoS Genet. 10(9):e1004606.
Toledo JB, Van Deerlin VM, Lee EB, Suh ER, Baek Y, Robinson JL, Xie SX, McBride J, Wood EM, Schuck T et al..  2014.  A platform for discovery: The University of Pennsylvania Integrated Neurodegenerative Disease Biobank.. Alzheimers Dement. 10(4):477-484.e1.
2013
Tsuang D, Leverenz JB, Lopez OL, Hamilton RL, Bennett DA, Schneider JA, Buchman AS, Larson EB, Crane PK, Kaye JA et al..  2013.  APOE ε4 increases risk for dementia in pure synucleinopathies.. JAMA Neurol. 70(2):223-8.
Cruchaga C, Kauwe JSK, Harari O, Jin SChih, Cai Y, Karch CM, Benitez BA, Jeng AT, Skorupa T, Carrell D et al..  2013.  GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.. Neuron. 78(2):256-68.
Stutzbach LD, Xie SX, Naj AC, Albin R, Gilman S, M Y Lee V, Trojanowski JQ, Devlin B, Schellenberg GD.  2013.  The unfolded protein response is activated in disease-affected brain regions in progressive supranuclear palsy and Alzheimer's disease.. Acta Neuropathol Commun. 1:31.
2012
Coppola G, Chinnathambi S, Lee JJiYong, Dombroski BA, Baker MC, Soto-Ortolaza AI, Lee SE, Klein E, Huang AY, Sears R et al..  2012.  Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases.. Hum Mol Genet. 21(15):3500-12.
Majounie E, Renton AE, Mok K, Dopper EGP, Waite A, Rollinson S, Chiò A, Restagno G, Nicolaou N, Simon-Sanchez J et al..  2012.  Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.. Lancet Neurol. 11(4):323-30.
Tsuang D, Leverenz JB, Lopez OL, Hamilton RL, Bennett DA, Schneider JA, Buchman AS, Larson EB, Crane PK, Kaye JA et al..  2012.  GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology.. Neurology. 79(19):1944-50.
2011
Naj AC, Jun G, Beecham GW, Wang L-S, Vardarajan BNarayan, Buros J, Gallins PJ, Buxbaum JD, Jarvik GP, Crane PK et al..  2011.  Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.. Nat Genet. 43(5):436-41.
Chen-Plotkin AS, Martinez-Lage M, Sleiman PMA, Hu W, Greene R, Wood EMcCarty, Bing S, Grossman M, Schellenberg GD, Hatanpaa KJ et al..  2011.  Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.. Arch Neurol. 68(4):488-97.

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