Julia Kofler, MD

Beecham GW, Hamilton K, Naj AC, Martin ER, Huentelman M, Myers AJ, Corneveaux JJ, Hardy J, Vonsattel JP, Younkin SG, Bennett DA, De Jager PL, Larson EB, Crane PK, Kamboh MI, Kofler JK, Mash DC, Duque L, Gilbert JR, Gwirtsman H, Buxbaum JD, Kramer P, Dickson DW, Farrer LA, Frosch MP, Ghetti B, Haines JL, Hyman BT, Kukull WA, Mayeux RP, Pericak-Vance MA, Schneider JA, Trojanowski JQ, Reiman EM, the Alzheimer’s Disease Genetics Consortium (ADGC), Schellenberg GD, Montine TJ. Genome-wide association meta-analysis of neuropathologic features of Alzheimer’s disease and related dementias. PLOS Genetics 2014 Sep 4;10(9):e1004606.

Crary JF, Trojanowski JQ, Schneider JA, Abisambra JF, Abner EL, Alafuzoff I, Arnold SE, Attems J, Beach TG, Bigio EH, Cairns NJ, Dickson DW, Gearing M, Grinberg LT, Hof PR, Hyman BT, Jellinger K, Jicha GA, Kovacs GG, Knopman DS, Kofler J, Kukull WA, Mackenzie IR, Masliah E, McKee A, Montine TJ, Murray ME, Neltner JH, Santa-Maria I, Seeley WW, Serrano-Pozo A, Shelanski ML, Stein T, Takao M, Thal DR, Toledo JB, Troncoso JC, Vonsattel JP, White CL 3rd, Wisniewski T, Woltjer RL, Yamada M, Nelson PT. Primary age-related tauopathy (PART): a common pathology associated with human aging. Acta Neuropathol 2014;128:755-66.

Montine TJ, Monsell SE, Beach TG, Bigio EH, Bu Y, Carins NJ, Frosch M, Henriksen J, Kofler J, Kukull WA, Lee EB, Nelson PT, Schantz AM, Schneider JA, Sonnen JA, Trojanowski JQ, Vinters HV, Zhou XH, Hyman BT. Multisite assessment of NIA-AA guidelines for the neuropathologic evaluation of Alzheimer’s disease. Alzheimers Dementia 2016;12:164-9

Kovacs GG, Ferrer I, Grinberg LT, Alafuzoff I, Attems J, Budka H, Cairns NJ, Crary JF, Duyckaerts C, GhettiB, Halliday GM, Ironside JW, Love S, Mackenzie IR, Munoz DG, Murray ME, Nelson PT, Takahashi H, Trojanowski JQ, Ansorge O, Arzberger T, Baborie A, Beach TG, Bieniek KF, Bigio EH, Bodi I, Dugger BN, Feany M, Gelpi E, Gentleman SM, Giaccone G, Hatanpaa KJ, Heale R, Hof PR, Hofer M, Hortobágyi T, Jellinger K, Jicha GA, Ince P, Kofler J, Kövari E, Kril JJ, Mann DM, Matej R, McKee AC, McLean C, Milenkovic I, Montine TJ, Murayama S, Lee EB, Rahimi J, Rodriguez RD, Rozemüller A, Schneider JA, Schultz C, Seeley W, Seilhean D, Smith C, Tagliavini F, Takao M, Thal DR, Toledo JB, Tolnay M, Troncoso JC, Vinters HV, Weis S, Wharton SB, White III, CL, Wisniewski T, Woulfe JM, Yamada M, and Dickson DW. Aging-related tau astrogliopathy (ARTAG): harmonized evaluation strategy. Acta Neuropathologica 2016;131:87-102.

Kirkwood CM, MacDonald ML, Schempf TA, Vatsavayi A, Ikonomovic MD, Ding Y, Sun M, Kofler J, Lopez OL, Yates N, Sweet RA. Altered Levels of Visinin-Like 1 Protein Correspond to Regional Neuronal Loss in Alzheimer Disease and Frontotemporal Lobar Degeneration. J Neuropathol Exp Neurol 2016;75:175-182.

Shen X, Chen J, Li J, Kofler J, Herrup K. Neurons in vulnerable regions of the Alzheimer's disease brain undergo a loss of ATM activity. eNeuro 2016 Feb 27;3(1)

Sweet RA, MacDonald ML, Kirkwood CM, Ding Y, Schempf T, Jones-Laughner J, Kofler J, Ikonomovic MD, Lopez OL, Fitz NF, Koldamova R, Yates NA. APOE*4 genotype is associated with altered levels of glutamate signaling proteins and synaptic co-expression networks in the prefrontal cortex in mild to moderate Alzheimer disease. Mol Cell Proteomics. 2016;15:2252-62.

Irwin DA, Grossman M, Weintraub D, Hurtig HI, Duda JE, Xie SX, Lee EB, Van Deerlin VM, Lopez OL, Kofler JK, Nelson PT, Jicha GA, Woltjer R, Quinn JF, Kaye J, Leverenz JB, Tsuang D, Longfellow K, Yearout D, Kukull W, Keene CD, Montine TJ, Zabetian CP, Trojanowski JQ. Neuropathological and genetic correlates of survival and dementia onset in synucleinopathies: a retrospective analysis. Lancet Neurol 2017;16:55-65

Kovacs GG, Xie SX, Lee EB, Robinson JL, Caswell C, Irwin DJ, Toledo JB, Johnson VE, Smith DH, Alafuzoff I, Attems J, Bencze J, Bieniek KF, Bigio EH, Bodi I, Budka H, Dickson DW, Dugger BN, Duyckaerts C, Ferrer I, Forrest SL, Gelpi E, Gentleman SM, Giaccone G, Grinberg LT, Halliday GM, Hatanpaa KJ, Hof PR, Hofer M, Hortobágyi T, Ironside JW, King A, Kofler J, Kövari E, Kril JJ, Love S, Mackenzie IR, Mao Q, Matej R, McLean C, Munoz DG, Murray ME, Neltner J, Nelson PT, Ritchie D, Rodriguez RD, Rohan Z, Rozemuller A, Sakai K, Schultz C, Seilhean D, Smith V, Tacik P, Takahashi H, Takao M, Thal DR, Weis S, Wharton SB, White III CL, Woulfe JM, Yamada M, Trojanowski JQ. Multisite assessment of aging-related tau astrogliopathy (ARTAG). J Neuropathol Exp Neurol 2017;76:605-19

Tulloch J, Leong L, Chen S, Keene CD, Millard SP, Shutes-David A, Lopez OL, Kofler J, Kaye JA, Woltjer R, Nelson PT, Neltner JH, Jicha GA, Galasko D, Masliah E, Leverenz JB, Yu CE, Tsuang D. APOE DNA methylation is altered in Lewy body dementia. Alzheimers Dement 2018;14:889-894

Sang C, Maiti S, Fortunato RN, Kofler J, Robertson AM. A uniaxial testing approach for consistent failure in vascular tissues. J Biomechanical Engineering 2018;140:0610101-06101010

Di Maio R, Hoffman EK, Rocha EM, Keeney MT, Sanders LH, De Miranda BR, Zharikov A, Van Laar A, McCoy J, Stepan A, Kofler JK, Burton EA, Alessi DR, Hastings TG, Greenamyre JT. A Central Role for LRRK2 in Idiopathic Parkinson Disease. Sci Transl Med 2018;10:eear5429

Krivinko JM, Erickson SL, Ding Y, Sun Z, Penzes P, MacDonald ML, Yates NA, Ikonomovic MD, Lopez OL, Sweet RA, Kofler J. Synaptic protein compensation and resilience to psychosis in Alzheimer Disease. Am J Psych 2018;175:999-1009

Minhas DS, Price JC, Laymon CM, Becker CR, Klunk WE, Tudorascu DL, Abrahamson EE, Hamilton RL, Kofler JK, Mathis CA, Lopez OL, Ikonomovic MD. Impact of partial volume correction on the regional correspondence between in vivo [C-11]PiB PET and postmortem measures of Aβ load. NeuroImage: Clinical 2018;19:182-189

Besser LM, Kukull WA, Teylan MA, Bigio EH, Cairns NJ, Kofler JK, Montine TJ, Schneider JA, Nelson PT. The Revised National Alzheimer's Coordinating Center's Neuropathology Form-Available Data and New Analyses. J Neuropathol Exp Neurol 2018;77:717-726

Pottier C, Zhou X, Perkerson RB 3rd, Baker M, Jenkins GD, Serie DJ, Ghidoni R, Benussi L, Binetti G, López de Munain A, Zulaica M, Moreno F, Le Ber I, Pasquier F, Hannequin D, Sánchez-Valle R, Antonell A, Lladó A, Parsons TM, Finch NA, Finger EC, Lippa CF, Huey ED, Neumann M, Heutink P, Synofzik M, Wilke C, Rissman RA, Slawek J, Sitek E, Johannsen P, Nielsen JE, Ren Y, van Blitterswijk M, DeJesus-Hernandez M, Christopher E, Murray ME, Bieniek KF, Evers BM, Ferrari C, Rollinson S, Richardson A, Scarpini E, Fumagalli GG, Padovani A, Hardy J, Momeni P, Ferrari R, Frangipane F, Maletta R, Anfossi M, Gallo M, Petrucelli L, Suh E, Lopez OL, Wong TH, van Rooij JGJ, Seelaar H, Mead S, Caselli RJ, Reiman EM, Noel Sabbagh M, Kjolby M, Nykjaer A, Karydas AM, Boxer AL, Grinberg LT, Grafman J, Spina S, Oblak A, Mesulam MM, Weintraub S, Geula C, Hodges JR, Piguet O, Brooks WS, Irwin DJ, Trojanowski JQ, Lee EB, Josephs KA, Parisi JE, Ertekin-Taner N, Knopman DS, Nacmias B, Piaceri I, Bagnoli S, Sorbi S, Gearing M, Glass J, Beach TG, Black SE, Masellis M, Rogaeva E, Vonsattel JP, Honig LS, Kofler J, Bruni AC, Snowden J, Mann D, Pickering-Brown S, Diehl-Schmid J, Winkelmann J, Galimberti D, Graff C, Öijerstedt L, Troakes C, Al-Sarraj S, Cruchaga C, Cairns NJ, Rohrer JD, Halliday GM, Kwok JB, van Swieten JC, White CL 3rd, Ghetti B, Murell JR, Mackenzie IRA, Hsiung GR, Borroni B, Rossi G, Tagliavini F, Wszolek ZK, Petersen RC, Bigio EH, Grossman M, Van Deerlin VM, Seeley WW, Miller BL, Graff-Radford NR, Boeve BF, Dickson DW, Biernacka JM, Rademakers R. Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study. Lancet Neurol 2018;17:548-558

Ritzel RM, Lai YJ, Crapser JD, Patel AR, Schrecengost A, Grenier JM, Mancini NS, Patrizz A, Jellison ER, Morales-Scheihing D, Venna VR, Kofler JK, Liu F, Verma R, McCullough LD. Aging alters the immunological response to ischemic stroke. Acta Neuropathol 2018;136:89-110

La Joie R, Ayakta N, Seeley WW, Borys E, Boxer AL, DeCarli C, Doré V, Grinberg LT, Huang E, Hwang J, Ikonomovic MD, Jack Jr C, Jagust WJ, Jin L, Klunk WE, Kofler J, Lesman-Segev OH, Lockhart SN, Lowe VJ, Masters CL, Mathis CA, McLean CL, Miller BL, Mungas D, O’Neil JP, Olichney JM, Parisi JE, Petersen RC, Rosen HJ, Rowe CC, Spina S, Vemuri P, Villemagne VL, Murray ME, Rabinovici GD. Multi-site study of the relationships between ante mortem [11C]PIB-PET Centiloid values and post mortem measures of Alzheimer’s disease neuropathology. Alz Dementia 2019;15:205-216.

Barroeta-Espar I, Weinstock LD, Perez-Nievas BG, Meltzer AC, Siao Tick Chong M, Amaral AC, Murray ME, Moulder KL, Morris JC, Cairns NJ, Parisi JE, Lowe VJ, Petersen RC, Kofler J, Ikonomovic MD, López O, Klunk WE, Mayeux RP, Frosch MP, Wood LB, Gomez-Isla T. Distinct cytokine profiles in human brains resilient to Alzheimer's pathology. Neurobiol Dis 2019;121:327-337.

Upadhyay Baskota S, Lopez OL, Greenamyre JT, Kofler J. Spectrum of Tau Pathologies in Huntington’s disease. Laboratory Invest 2019;99:1068-77.

Pottier C, Ren Y, Perkerson RB 3rd, Baker M, Jenkins GD, van Blitterswijk M, DeJesus-Hernandez M, van Rooij JGJ, Murray ME, Christopher E, McDonnell SK, Fogarty Z, Batzler A, Tian S, Vicente CT, Matchett B, Karydas AM, Hsiung GR, Seelaar H, Mol MO, Finger EC, Graff C, Öijerstedt L, Neumann M, Heutink P, Synofzik M, Wilke C, Prudlo J, Rizzu P, Simon-Sanchez J, Edbauer D, Roeber S, Diehl-Schmid J, Evers BM, King A, Mesulam MM, Weintraub S, Geula C, Bieniek KF, Petrucelli L, Ahern GL, Reiman EM, Woodruff BK, Caselli RJ, Huey ED, Farlow MR, Grafman J, Mead S, Grinberg LT, Spina S, Grossman M, Irwin DJ, Lee EB, Suh E, Snowden J, Mann D, Ertekin-Taner N, Uitti RJ, Wszolek ZK, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Hodges JR, Piguet O, Geier EG, Yokoyama JS, Rissman RA, Rogaeva E, Keith J, Zinman L, Tartaglia MC, Cairns NJ, Cruchaga C, Ghetti B, Kofler J, Lopez OL, Beach TG, Arzberger T, Herms J, Honig LS, Vonsattel JP, Halliday GM, Kwok JB, White CL 3rd, Gearing M, Glass J, Rollinson S, Pickering-Brown S, Rohrer JD, Trojanowski JQ, Van Deerlin V, Bigio EH, Troakes C, Al-Sarraj S, Asmann Y, Miller BL, Graff-Radford NR, Boeve BF, Seeley WW, Mackenzie IRA, van Swieten JC, Dickson DW, Biernacka JM, Rademakers R. Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD. Acta Neuropathol 2019;137:879-899.

Wang L, Ying J, Fan P, Weamer EA, DeMichele-Sweet MAA, Lopez OL, Kofler JK, Sweet RA. Effects of Vitamin D Use on Outcomes of Psychotic Symptoms in Alzheimer Disease Patients. Am J Geriatr Psychiatry. 2019;27:908-917

Mann JR, Gleixner AM, Mauna JC, Gomes E, DeChellis-Marks MR, Needham PG, Copley KE, Hurtle B, Portz B, Pyles NJ, Guo L, Calder CB, Wills ZP, Pandey UB, Kofler JK, Brodsky JL, Thathiah A, Shorter J, Donnelly CJ. RNA Binding Antagonizes Neurotoxic Phase Transitions of TDP-43. Neuron. 2019;102:321-338.

Lefterov I, Wolfe CM, Fitz NF, Nam KN, Letronne F, Biedrzycki RJ, Kofler J, Han X, Wang J, Schug J, Koldamova R. APOE2 orchestrated differences in transcriptomic and lipidomic profiles of postmortem AD brain. Alz Res Ther 2019;11:113.

Rocha EM, De Miranda BR, Castro S, Drolet R, Hatcher NG, Yao L, Smith SM, Keeney MT, Di Maio R, Kofler J, Hastings TG, Greenamyre JT. LRRK2 inhibition prevents endolysosomal deficits seen in human Parkinson's disease. Neurobiol Dis 2019;134:104626

Reiman EM, Arboleda-Velasquez JF, Quiroz YT, Huentelman MJ, Beach TG, Caselli RJ, Chen Y, Su Y, Myers AJ, Hardy J, Paul Vonsattel J, Younkin SG, Bennett DA, De Jager PL, Larson EB, Crane PK, Keene CD, Kamboh MI, Kofler JK, Duque L, Gilbert JR, Gwirtsman HE, Buxbaum JD, Dickson DW, Frosch MP, Ghetti BF, Lunetta KL, Wang LS, Hyman BT, Kukull WA, Foroud T, Haines JL, Mayeux RP, Pericak-Vance MA, Schneider JA, Trojanowski JQ, Farrer LA, Schellenberg GD, Beecham GW, Montine TJ, Jun GR; Alzheimer’s Disease Genetics Consortium. Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological study. Nat Comm 2020;11:667.

Weinstock NI, Shin D, Dhimal N, Hong X, Irons EE, Silvestri NJ, Reed CB, Nguyen D, Sampson O, Cheng YC, Lau JTY, Bongarzone ER, Kofler J, Escolar ML, Gelb MH, Wrabetz L, Feltri ML. Macrophages Expressing GALC Improve Peripheral Krabbe Disease by a Mechanism Independent of Cross-Correction. Neuron 2020;107:65-81.

Lopez OL, Kofler J, Chang Y, Berman SB, Becker JT, Sweet RA, Nadkarni N, Patira R, Kamboh MI, Cohen AD, Snitz BE, Kuller LH, Klunk WE. Relationship between hippocampal sclerosis, TDP-43, and the duration of the symptoms of dementia of Alzheimer’s disease patients. Ann Clin Transl Neurol 2020;7:1546-1556

Gireud-Goss M, Reyes S, Tewari R, Patrizz A, Howe MD, Kofler J, Waxham MN, McCullough LD, Bean AJ. The ubiquitin ligase UBE4B regulates amyloid precursor protein ubiquitination, endosomal trafficking, and amyloid β42 generation and secretion. Mol Cell Neurosci 2020;108:103542.

Ikonomovic MD, Buckley CJ, Abrahamson EE, Kofler JK, Mathis CA, Klunk WE, Farrar G. Post-mortem analyses of PiB and flutemetamol in diffuse and cored amyloid-β plaques in Alzheimer's disease. Acta Neuropathol 2002;140:463-476.

Bu F, Munshi Y, Furr JW, Min JW, Qi L, Patrizz A, Spahr ZR, Urayama A, Kofler JK, McCullough LD, Li J. Activation of Neuronal Ras-Related C3 Botulinum Toxin Substrate 1 (Rac1) Improves Post-Stroke Recovery and Axonal Plasticity in Mice. J Neurochem 2020, Sep 22 (Epub ahead of print)

Ramesh N, Daley EL, Gleixner AM, Mann JR, Kour S, Mawrie D, Anderson EN, Kofler J, Donnelly CJ, Kiskinis E, Pandey UB. RNA dependent suppression of C9orf72 ALS/FTD associated neurodegeneration by Matrin-3. Acta Neuropathol Comm 2020;8:177

Stepler KE, Mahoney ER, Kofler J, Hohman TJ, Lopez OL, Robinson RAS. Inclusion of African American/black adults in a pilot brain proteomics study of Alzheimer's disease. Neurobiol Dis 2020;146:105129

Smith DH, Dollé JP, Ameen-Ali KE, Bretzin A, Cortes E, Crary JF, Dams-O'Connor K, Diaz-Arrastia R, Edlow BL, Folkerth R, Hazrati LN, Hinds SR, Iacono D, Johnson VE, Keene CD, Kofler J, Kovacs GG, Lee EB, Manley G, Meaney D, Montine T, Okonkwo DO, Perl DP, Trojanowski JQ, Wiebe DJ, Yaffe K, McCabe T, Stewart W. COllaborative Neuropathology NEtwork Characterizing ouTcomes of TBI (CONNECT-TBI). Acta Neuropathol Comm 2021;9:32

Walker JM, Richardson TE, Farrell K, Iida MA, Foong C, Shang P, Attems J, Ayalon G, Beach TG, Bigio EH, Budson A, Cairns NJ, Corrada M, Cortes E, Dickson DW, Fischer P, Flanagan ME, Franklin E, Gearing M, Glass J, Hansen LA, Haroutunian V, Hof PR, Honig L, Kawas C, Keene CD, Kofler J, Kovacs GG, Lee EB, Lutz MI, Mao Q, Masliah E, McKee AC, McMillan CT, Mesulam MM, Murray M, Nelson PT, Perrin R, Pham T, Poon W, Purohit DP, Rissman RA, Sakai K, Sano M, Schneider JA, Stein TD, Teich AF, Trojanowski JQ, Troncoso JC, Vonsattel JP, Weintraub S, Wolk DA, Woltjer RL, Yamada M, Yu L, White CL, Crary JF. Early Selective Vulnerability of the CA2 Hippocampal Subfield in Primary Age-Related Tauopathy. J Neuropathol Exp Neurol. 2021;80:102-111

Anderson EN, Morera AA, Kour S, Cherry JD, Ramesh N, Gleixner A, Schwartz JC, Ebmeier C, Old W, Donnelly CJ, Cheng JP, Kline AE, Kofler J, Stein TD, Pandey UB. Traumatic injury compromises nucleocytoplasmic transport and leads to TDP-43 pathology. Elife 2021 May 26

Rafael Guimarães T, Swanson E, Kofler J, Thathiah A. G protein-coupled receptor kinases are associated with Alzheimer's disease pathology. Neuropathol Appl Neurobiol 2021 Jun 23 (published online ahead of print)

Iida MA, Farrell K, Walker JM, Richardson TE, Marx GA, Bryce CH, Purohit D, Ayalon G, Beach TG, Bigio EH, Cortes EP, Gearing M, Haroutunian V, McMillan CT, Lee EB, Dickson DW, McKee AC, Stein TD, Trojanowski JQ, Woltjer RL, Kovacs GG, Kofler JK, Kaye J, White CL 3rd, Crary JF. Predictors of cognitive impairment in primary age-related tauopathy: an autopsy study. Acta Neuropathol Comm 2021;9:134