ADGC Publications

Found 16 results
Filters: Author is Van Deerlin, Vivianna M  [Clear All Filters]
2019
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.
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.
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.
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
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.
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.
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.
2010
Van Deerlin VM, Sleiman PMA, Martinez-Lage M, Chen-Plotkin A, San Wang L-, Graff-Radford NR, Dickson DW, Rademakers R, Boeve BF, Grossman M et al..  2010.  Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.. Nat Genet. 42(3):234-9.