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Page 1
Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score.
Desikan RS, Fan CC, Wang Y, Schork AJ, Cabral HJ, Cupples LA, Thompson WK, Besser L, Kukull WA, Holland D, Chen CH, Brewer JB, Karow DS, Kauppi K, Witoelar A, Karch CM, Bonham LW, Yokoyama JS, Rosen HJ, Miller BL, Dillon WP, Wilson DM, Hess CP, Pericak-Vance M, Haines JL, Farrer LA, Mayeux R, Hardy J, Goate AM, Hyman BT, Schellenberg GD, McEvoy LK, Andreassen OA, Dale AM. Desikan RS, et al. Among authors: karch cm. PLoS Med. 2017 Mar 21;14(3):e1002258. doi: 10.1371/journal.pmed.1002258. eCollection 2017 Mar. PLoS Med. 2017. PMID: 28323831 Free PMC article.
Fine mapping of genetic variants in BIN1, CLU, CR1 and PICALM for association with cerebrospinal fluid biomarkers for Alzheimer's disease.
Kauwe JS, Cruchaga C, Karch CM, Sadler B, Lee M, Mayo K, Latu W, Su'a M, Fagan AM, Holtzman DM, Morris JC; Alzheimer's Disease Neuroimaging Initiative; Goate AM. Kauwe JS, et al. Among authors: karch cm. PLoS One. 2011 Feb 9;6(2):e15918. doi: 10.1371/journal.pone.0015918. PLoS One. 2011. PMID: 21347408 Free PMC article.
Calcium phosphatase calcineurin influences tau metabolism.
Karch CM, Jeng AT, Goate AM. Karch CM, et al. Neurobiol Aging. 2013 Feb;34(2):374-86. doi: 10.1016/j.neurobiolaging.2012.05.003. Epub 2012 Jun 6. Neurobiol Aging. 2013. PMID: 22676853 Free PMC article.
GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.
Cruchaga C, Kauwe JS, Harari O, Jin SC, Cai Y, Karch CM, Benitez BA, Jeng AT, Skorupa T, Carrell D, Bertelsen S, Bailey M, McKean D, Shulman JM, De Jager PL, Chibnik L, Bennett DA, Arnold SE, Harold D, Sims R, Gerrish A, Williams J, Van Deerlin VM, Lee VM, Shaw LM, Trojanowski JQ, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD, Peskind ER, Galasko D, Fagan AM, Holtzman DM, Morris JC; GERAD Consortium; Alzheimer’s Disease Neuroimaging Initiative (ADNI); Alzheimer Disease Genetic Consortium (ADGC); Goate AM. Cruchaga C, et al. Among authors: karch cm. Neuron. 2013 Apr 24;78(2):256-68. doi: 10.1016/j.neuron.2013.02.026. Epub 2013 Apr 4. Neuron. 2013. PMID: 23562540 Free PMC article.
The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers.
Benitez BA, Karch CM, Cai Y, Jin SC, Cooper B, Carrell D, Bertelsen S, Chibnik L, Schneider JA, Bennett DA; Alzheimer's Disease Neuroimaging Initiative; Genetic and Environmental Risk for Alzheimer's Disease Consortium GERAD; Fagan AM, Holtzman D, Morris JC, Goate AM, Cruchaga C. Benitez BA, et al. Among authors: karch cm. PLoS Genet. 2013;9(8):e1003685. doi: 10.1371/journal.pgen.1003685. Epub 2013 Aug 22. PLoS Genet. 2013. PMID: 23990795 Free PMC article.
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.
Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y, Guerreiro R, Harari O, Norton J, Budde J, Bertelsen S, Jeng AT, Cooper B, Skorupa T, Carrell D, Levitch D, Hsu S, Choi J, Ryten M, Sassi C, Bras J, Gibbs RJ, Hernandez DG, Lupton MK, Powell J, Forabosco P, Ridge PG, Corcoran CD, Tschanz JT, Norton MC, Munger RG, Schmutz C, Leary M, Demirci FY, Bamne MN, Wang X, Lopez OL, Ganguli M, Medway C, Turton J, Lord J, Braae A, Barber I, Brown K; Alzheimer's Research UK (ARUK) Consortium; Pastor P, Lorenzo-Betancor O, Brkanac Z, Scott E, Topol E, Morgan K, Rogaeva E, Singleton A, Hardy J, Kamboh MI, George-Hyslop PS, Cairns N, Morris JC, Kauwe JSK, Goate AM. Cruchaga C, et al. Among authors: karch cm. Nature. 2014 Jan 23;505(7484):550-554. doi: 10.1038/nature12825. Epub 2013 Dec 11. Nature. 2014. PMID: 24336208 Free PMC article.
Coding variants in TREM2 increase risk for Alzheimer's disease.
Jin SC, Benitez BA, Karch CM, Cooper B, Skorupa T, Carrell D, Norton JB, Hsu S, Harari O, Cai Y, Bertelsen S, Goate AM, Cruchaga C. Jin SC, et al. Among authors: karch cm. Hum Mol Genet. 2014 Nov 1;23(21):5838-46. doi: 10.1093/hmg/ddu277. Epub 2014 Jun 4. Hum Mol Genet. 2014. PMID: 24899047 Free PMC article.
Genome-wide association study of CSF levels of 59 alzheimer's disease candidate proteins: significant associations with proteins involved in amyloid processing and inflammation.
Kauwe JS, Bailey MH, Ridge PG, Perry R, Wadsworth ME, Hoyt KL, Staley LA, Karch CM, Harari O, Cruchaga C, Ainscough BJ, Bales K, Pickering EH, Bertelsen S; Alzheimer's Disease Neuroimaging Initiative; Fagan AM, Holtzman DM, Morris JC, Goate AM. Kauwe JS, et al. Among authors: karch cm. PLoS Genet. 2014 Oct 23;10(10):e1004758. doi: 10.1371/journal.pgen.1004758. eCollection 2014 Oct. PLoS Genet. 2014. PMID: 25340798 Free PMC article.
Association Between Genetic Traits for Immune-Mediated Diseases and Alzheimer Disease.
Yokoyama JS, Wang Y, Schork AJ, Thompson WK, Karch CM, Cruchaga C, McEvoy LK, Witoelar A, Chen CH, Holland D, Brewer JB, Franke A, Dillon WP, Wilson DM, Mukherjee P, Hess CP, Miller Z, Bonham LW, Shen J, Rabinovici GD, Rosen HJ, Miller BL, Hyman BT, Schellenberg GD, Karlsen TH, Andreassen OA, Dale AM, Desikan RS; Alzheimer’s Disease Neuroimaging Initiative. Yokoyama JS, et al. Among authors: karch cm. JAMA Neurol. 2016 Jun 1;73(6):691-7. doi: 10.1001/jamaneurol.2016.0150. JAMA Neurol. 2016. PMID: 27088644 Free PMC article.
Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases.
Ferrari R, Wang Y, Vandrovcova J, Guelfi S, Witeolar A, Karch CM, Schork AJ, Fan CC, Brewer JB; International FTD-Genomics Consortium (IFGC),; International Parkinson's Disease Genomics Consortium (IPDGC),; International Genomics of Alzheimer's Project (IGAP),; Momeni P, Schellenberg GD, Dillon WP, Sugrue LP, Hess CP, Yokoyama JS, Bonham LW, Rabinovici GD, Miller BL, Andreassen OA, Dale AM, Hardy J, Desikan RS. Ferrari R, et al. Among authors: karch cm. J Neurol Neurosurg Psychiatry. 2017 Feb;88(2):152-164. doi: 10.1136/jnnp-2016-314411. Epub 2016 Nov 29. J Neurol Neurosurg Psychiatry. 2017. PMID: 27899424 Free PMC article.
Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia.
Yokoyama JS, Karch CM, Fan CC, Bonham LW, Kouri N, Ross OA, Rademakers R, Kim J, Wang Y, Höglinger GU, Müller U, Ferrari R, Hardy J; International FTD-Genomics Consortium (IFGC); Momeni P, Sugrue LP, Hess CP, James Barkovich A, Boxer AL, Seeley WW, Rabinovici GD, Rosen HJ, Miller BL, Schmansky NJ, Fischl B, Hyman BT, Dickson DW, Schellenberg GD, Andreassen OA, Dale AM, Desikan RS. Yokoyama JS, et al. Among authors: karch cm. Acta Neuropathol. 2017 May;133(5):825-837. doi: 10.1007/s00401-017-1693-y. Epub 2017 Mar 7. Acta Neuropathol. 2017. PMID: 28271184 Free PMC article.
An Efficient Platform for Astrocyte Differentiation from Human Induced Pluripotent Stem Cells.
Tcw J, Wang M, Pimenova AA, Bowles KR, Hartley BJ, Lacin E, Machlovi SI, Abdelaal R, Karch CM, Phatnani H, Slesinger PA, Zhang B, Goate AM, Brennand KJ. Tcw J, et al. Among authors: karch cm. Stem Cell Reports. 2017 Aug 8;9(2):600-614. doi: 10.1016/j.stemcr.2017.06.018. Epub 2017 Jul 27. Stem Cell Reports. 2017. PMID: 28757165 Free PMC article.
Polygenic hazard score: an enrichment marker for Alzheimer's associated amyloid and tau deposition.
Tan CH, Fan CC, Mormino EC, Sugrue LP, Broce IJ, Hess CP, Dillon WP, Bonham LW, Yokoyama JS, Karch CM, Brewer JB, Rabinovici GD, Miller BL, Schellenberg GD, Kauppi K, Feldman HA, Holland D, McEvoy LK, Hyman BT, Bennett DA, Andreassen OA, Dale AM, Desikan RS; Alzheimer’s Disease Neuroimaging Initiative. Tan CH, et al. Among authors: karch cm. Acta Neuropathol. 2018 Jan;135(1):85-93. doi: 10.1007/s00401-017-1789-4. Epub 2017 Nov 24. Acta Neuropathol. 2018. PMID: 29177679 Free PMC article.
Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience.
Ridge PG, Karch CM, Hsu S, Arano I, Teerlink CC, Ebbert MTW, Gonzalez Murcia JD, Farnham JM, Damato AR, Allen M, Wang X, Harari O, Fernandez VM, Guerreiro R, Bras J, Hardy J, Munger R, Norton M, Sassi C, Singleton A, Younkin SG, Dickson DW, Golde TE, Price ND, Ertekin-Taner N, Cruchaga C, Goate AM, Corcoran C, Tschanz J, Cannon-Albright LA, Kauwe JSK; Alzheimer’s Disease Neuroimaging Initiative. Ridge PG, et al. Among authors: karch cm. Genome Med. 2017 Nov 29;9(1):100. doi: 10.1186/s13073-017-0486-1. Genome Med. 2017. PMID: 29183403 Free PMC article.
Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies.
Broce I, Karch CM, Wen N, Fan CC, Wang Y, Tan CH, Kouri N, Ross OA, Höglinger GU, Muller U, Hardy J; International FTD-Genomics Consortium; Momeni P, Hess CP, Dillon WP, Miller ZA, Bonham LW, Rabinovici GD, Rosen HJ, Schellenberg GD, Franke A, Karlsen TH, Veldink JH, Ferrari R, Yokoyama JS, Miller BL, Andreassen OA, Dale AM, Desikan RS, Sugrue LP. Broce I, et al. Among authors: karch cm. PLoS Med. 2018 Jan 9;15(1):e1002487. doi: 10.1371/journal.pmed.1002487. eCollection 2018 Jan. PLoS Med. 2018. PMID: 29315334 Free PMC article.
Correction to: Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience.
Ridge PG, Karch CM, Hsu S, Arano I, Teerlink CC, Ebbert MTW, Murcia JDG, Farnham JM, Damato AR, Allen M, Wang X, Harari O, Fernandez VM, Guerreiro R, Bras J, Hardy J, Munger R, Norton M, Sassi C, Singleton A, Younkin SG, Dickson DW, Golde TE, Price ND, Ertekin-Taner N, Cruchaga C, Goate AM, Corcoran C, Tschanz J, Cannon-Albright LA, Kauwe JSK; Alzheimer’s Disease Neuroimaging Initiative. Ridge PG, et al. Among authors: karch cm. Genome Med. 2018 Jan 12;10(1):4. doi: 10.1186/s13073-018-0516-7. Genome Med. 2018. PMID: 29329552 Free PMC article.
Correction: Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies.
Broce I, Karch CM, Wen N, Fan CC, Wang Y, Tan CH, Kouri N, Ross OA, Höglinger GU, Muller U, Hardy J; International FTD-Genomics Consortium; Momeni P, Hess CP, Dillon WP, Miller ZA, Bonham LW, Rabinovici GD, Rosen HJ, Schellenberg GD, Franke A, Karlsen TH, Veldink JH, Ferrari R, Yokoyama JS, Miller BL, Andreassen OA, Dale AM, Desikan RS, Sugrue LP. Broce I, et al. Among authors: karch cm. PLoS Med. 2018 Jan 29;15(1):e1002504. doi: 10.1371/journal.pmed.1002504. eCollection 2018 Jan. PLoS Med. 2018. PMID: 29377952 Free PMC article.
Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum.
Karch CM, Wen N, Fan CC, Yokoyama JS, Kouri N, Ross OA, Höglinger G, Müller U, Ferrari R, Hardy J, Schellenberg GD, Sleiman PM, Momeni P, Hess CP, Miller BL, Sharma M, Van Deerlin V, Smeland OB, Andreassen OA, Dale AM, Desikan RS; International Frontotemporal Dementia (FTD)–Genomics Consortium, International Collaboration for Frontotemporal Dementia, Progressive Supranuclear Palsy (PSP) Genetics Consortium, and International Parkinson’s Disease Genomics Consortium. Karch CM, et al. JAMA Neurol. 2018 Jul 1;75(7):860-875. doi: 10.1001/jamaneurol.2018.0372. JAMA Neurol. 2018. PMID: 29630712 Free PMC article.
CXCR4 involvement in neurodegenerative diseases.
Bonham LW, Karch CM, Fan CC, Tan C, Geier EG, Wang Y, Wen N, Broce IJ, Li Y, Barkovich MJ, Ferrari R, Hardy J, Momeni P, Höglinger G, Müller U, Hess CP, Sugrue LP, Dillon WP, Schellenberg GD, Miller BL, Andreassen OA, Dale AM, Barkovich AJ, Yokoyama JS, Desikan RS; International FTD-Genomics Consortium (IFGC); International Parkinson’s Disease Genetics Consortium (IPDGC); International Genomics of Alzheimer’s Project (IGAP). Bonham LW, et al. Among authors: karch cm. Transl Psychiatry. 2018 Apr 11;8(1):73. doi: 10.1038/s41398-017-0049-7. Transl Psychiatry. 2018. PMID: 29636460 Free PMC article.
Discovery and validation of autosomal dominant Alzheimer's disease mutations.
Hsu S, Gordon BA, Hornbeck R, Norton JB, Levitch D, Louden A, Ziegemeier E, Laforce R Jr, Chhatwal J, Day GS, McDade E, Morris JC, Fagan AM, Benzinger TLS, Goate AM, Cruchaga C, Bateman RJ; Dominantly Inherited Alzheimer Network (DIAN); Karch CM. Hsu S, et al. Among authors: karch cm. Alzheimers Res Ther. 2018 Jul 18;10(1):67. doi: 10.1186/s13195-018-0392-9. Alzheimers Res Ther. 2018. PMID: 30021643 Free PMC article.
Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.
Karch CM, Hernández D, Wang JC, Marsh J, Hewitt AW, Hsu S, Norton J, Levitch D, Donahue T, Sigurdson W, Ghetti B, Farlow M, Chhatwal J, Berman S, Cruchaga C, Morris JC, Bateman RJ; Dominantly Inherited Alzheimer Network (DIAN); Pébay A, Goate AM. Karch CM, et al. Alzheimers Res Ther. 2018 Jul 25;10(1):69. doi: 10.1186/s13195-018-0400-0. Alzheimers Res Ther. 2018. PMID: 30045758 Free PMC article.
Regionally specific TSC1 and TSC2 gene expression in tuberous sclerosis complex.
Li Y, Barkovich MJ, Karch CM, Nillo RM, Fan CC, Broce IJ, Tan CH, Cuneo D, Hess CP, Dillon WP, Glenn OA, Glastonbury CM, Olney N, Yokoyama JS, Bonham LW, Miller B, Kao A, Schmansky N, Fischl B, Andreassen OA, Jernigan T, Dale A, Barkovich AJ, Desikan RS, Sugrue LP. Li Y, et al. Among authors: karch cm. Sci Rep. 2018 Sep 6;8(1):13373. doi: 10.1038/s41598-018-31075-4. Sci Rep. 2018. PMID: 30190613 Free PMC article.
Protein network analysis reveals selectively vulnerable regions and biological processes in FTD.
Bonham LW, Steele NZR, Karch CM, Manzoni C, Geier EG, Wen N, Ofori-Kuragu A, Momeni P, Hardy J, Miller ZA, Hess CP, Lewis P, Miller BL, Seeley WW, Baranzini SE, Desikan RS, Ferrari R, Yokoyama JS; International FTD-Genomics Consortium (IFGC). Bonham LW, et al. Among authors: karch cm. Neurol Genet. 2018 Oct 1;4(5):e266. doi: 10.1212/NXG.0000000000000266. eCollection 2018 Oct. Neurol Genet. 2018. PMID: 30283816 Free PMC article.
Dissecting the genetic relationship between cardiovascular risk factors and Alzheimer's disease.
Broce IJ, Tan CH, Fan CC, Jansen I, Savage JE, Witoelar A, Wen N, Hess CP, Dillon WP, Glastonbury CM, Glymour M, Yokoyama JS, Elahi FM, Rabinovici GD, Miller BL, Mormino EC, Sperling RA, Bennett DA, McEvoy LK, Brewer JB, Feldman HH, Hyman BT, Pericak-Vance M, Haines JL, Farrer LA, Mayeux R, Schellenberg GD, Yaffe K, Sugrue LP, Dale AM, Posthuma D, Andreassen OA, Karch CM, Desikan RS. Broce IJ, et al. Among authors: karch cm. Acta Neuropathol. 2019 Feb;137(2):209-226. doi: 10.1007/s00401-018-1928-6. Epub 2018 Nov 9. Acta Neuropathol. 2019. PMID: 30413934 Free PMC article.
Immunological signatures in frontotemporal lobar degeneration.
Sirkis DW, Bonham LW, Karch CM, Yokoyama JS. Sirkis DW, et al. Among authors: karch cm. Curr Opin Neurol. 2019 Apr;32(2):272-278. doi: 10.1097/WCO.0000000000000665. Curr Opin Neurol. 2019. PMID: 30672824 Free PMC article. Review.
Clinical, pathophysiological and genetic features of motor symptoms in autosomal dominant Alzheimer's disease.
Vöglein J, Paumier K, Jucker M, Preische O, McDade E, Hassenstab J, Benzinger TL, Noble JM, Berman SB, Graff-Radford NR, Ghetti B, Farlow MR, Chhatwal J, Salloway S, Xiong C, Karch CM, Cairns N, Mori H, Schofield PR, Masters CL, Goate A, Buckles V, Fox N, Rossor M, Chrem P, Allegri R, Ringman JM, Höglinger G, Steiner H, Dieterich M, Haass C, Laske C, Morris JC, Bateman RJ, Danek A, Levin J; Dominantly Inherited Alzheimer Network. Vöglein J, et al. Among authors: karch cm. Brain. 2019 May 1;142(5):1429-1440. doi: 10.1093/brain/awz050. Brain. 2019. PMID: 30897203 Free PMC article.
The BDNFVal66Met SNP modulates the association between beta-amyloid and hippocampal disconnection in Alzheimer's disease.
Franzmeier N, Ren J, Damm A, Monté-Rubio G, Boada M, Ruiz A, Ramirez A, Jessen F, Düzel E, Rodríguez Gómez O, Benzinger T, Goate A, Karch CM, Fagan AM, McDade E, Buerger K, Levin J, Duering M, Dichgans M, Suárez-Calvet M, Haass C, Gordon BA, Lim YY, Masters CL, Janowitz D, Catak C, Wolfsgruber S, Wagner M, Milz E, Moreno-Grau S, Teipel S, Grothe MJ, Kilimann I, Rossor M, Fox N, Laske C, Chhatwal J, Falkai P, Perneczky R, Lee JH, Spottke A, Boecker H, Brosseron F, Fliessbach K, Heneka MT, Nestor P, Peters O, Fuentes M, Menne F, Priller J, Spruth EJ, Franke C, Schneider A, Westerteicher C, Speck O, Wiltfang J, Bartels C, Araque Caballero MÁ, Metzger C, Bittner D, Salloway S, Danek A, Hassenstab J, Yakushev I, Schofield PR, Morris JC, Bateman RJ, Ewers M. Franzmeier N, et al. Among authors: karch cm. Mol Psychiatry. 2021 Feb;26(2):614-628. doi: 10.1038/s41380-019-0404-6. Epub 2019 Mar 21. Mol Psychiatry. 2021. PMID: 30899092 Free PMC article.
Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia.
Bonham LW, Steele NZR, Karch CM, Broce I, Geier EG, Wen NL, Momeni P, Hardy J, Miller ZA, Gorno-Tempini ML, Hess CP, Lewis P, Miller BL, Seeley WW, Manzoni C, Desikan RS, Baranzini SE, Ferrari R, Yokoyama JS; International FTD-Genomics Consortium (IFGC). Bonham LW, et al. Among authors: karch cm. Sci Rep. 2019 Jul 26;9(1):10854. doi: 10.1038/s41598-019-46415-1. Sci Rep. 2019. PMID: 31350420 Free PMC article.
Recent advances in the genetics of frontotemporal dementia.
Sirkis DW, Geier EG, Bonham LW, Karch CM, Yokoyama JS. Sirkis DW, et al. Among authors: karch cm. Curr Genet Med Rep. 2019 Mar;7(1):41-52. doi: 10.1007/s40142-019-0160-6. Epub 2019 Jan 30. Curr Genet Med Rep. 2019. PMID: 31687268 Free PMC article.
Awareness of genetic risk in the Dominantly Inherited Alzheimer Network (DIAN).
Aschenbrenner AJ, James BD, McDade E, Wang G, Lim YY, Benzinger TLS, Cruchaga C, Goate A, Xiong C, Perrin R, Buckles V, Allegri R, Berman SB, Chhatwal JP, Fagan A, Farlow M, O'Connor A, Ghetti B, Graff-Radford N, Goldman J, Gräber S, Karch CM, Lee JH, Levin J, Martins RN, Masters C, Mori H, Noble J, Salloway S, Schofield P, Morris JC, Bateman RJ, Hassenstab J; Dominantly Inherited Alzheimer Network. Aschenbrenner AJ, et al. Among authors: karch cm. Alzheimers Dement. 2020 Jan;16(1):219-228. doi: 10.1002/alz.12010. Alzheimers Dement. 2020. PMID: 31914221 Free PMC article.
Predicting sporadic Alzheimer's disease progression via inherited Alzheimer's disease-informed machine-learning.
Franzmeier N, Koutsouleris N, Benzinger T, Goate A, Karch CM, Fagan AM, McDade E, Duering M, Dichgans M, Levin J, Gordon BA, Lim YY, Masters CL, Rossor M, Fox NC, O'Connor A, Chhatwal J, Salloway S, Danek A, Hassenstab J, Schofield PR, Morris JC, Bateman RJ; Alzheimer's disease neuroimaging initiative (ADNI); Dominantly Inherited Alzheimer Network (DIAN); Ewers M. Franzmeier N, et al. Among authors: karch cm. Alzheimers Dement. 2020 Mar;16(3):501-511. doi: 10.1002/alz.12032. Epub 2020 Feb 11. Alzheimers Dement. 2020. PMID: 32043733 Free PMC article.
A soluble phosphorylated tau signature links tau, amyloid and the evolution of stages of dominantly inherited Alzheimer's disease.
Barthélemy NR, Li Y, Joseph-Mathurin N, Gordon BA, Hassenstab J, Benzinger TLS, Buckles V, Fagan AM, Perrin RJ, Goate AM, Morris JC, Karch CM, Xiong C, Allegri R, Mendez PC, Berman SB, Ikeuchi T, Mori H, Shimada H, Shoji M, Suzuki K, Noble J, Farlow M, Chhatwal J, Graff-Radford NR, Salloway S, Schofield PR, Masters CL, Martins RN, O'Connor A, Fox NC, Levin J, Jucker M, Gabelle A, Lehmann S, Sato C, Bateman RJ, McDade E; Dominantly Inherited Alzheimer Network. Barthélemy NR, et al. Among authors: karch cm. Nat Med. 2020 Mar;26(3):398-407. doi: 10.1038/s41591-020-0781-z. Epub 2020 Mar 11. Nat Med. 2020. PMID: 32161412 Free PMC article.
Longitudinal Accumulation of Cerebral Microhemorrhages in Dominantly Inherited Alzheimer Disease.
Joseph-Mathurin N, Wang G, Kantarci K, Jack CR Jr, McDade E, Hassenstab J, Blazey TM, Gordon BA, Su Y, Chen G, Massoumzadeh P, Hornbeck RC, Allegri RF, Ances BM, Berman SB, Brickman AM, Brooks WS, Cash DM, Chhatwal JP, Chui HC, Correia S, Cruchaga C, Farlow MR, Fox NC, Fulham M, Ghetti B, Graff-Radford NR, Johnson KA, Karch CM, Laske C, Lee AKW, Levin J, Masters CL, Noble JM, O'Connor A, Perrin RJ, Preboske GM, Ringman JM, Rowe CC, Salloway S, Saykin AJ, Schofield PR, Shimada H, Shoji M, Suzuki K, Villemagne VL, Xiong C, Yakushev I, Morris JC, Bateman RJ, Benzinger TLS; Dominantly Inherited Alzheimer Network. Joseph-Mathurin N, et al. Among authors: karch cm. Neurology. 2021 Mar 23;96(12):e1632-e1645. doi: 10.1212/WNL.0000000000011542. Epub 2021 Jan 25. Neurology. 2021. PMID: 33495373 Free PMC article.
Segregation of functional networks is associated with cognitive resilience in Alzheimer's disease.
Ewers M, Luan Y, Frontzkowski L, Neitzel J, Rubinski A, Dichgans M, Hassenstab J, Gordon BA, Chhatwal JP, Levin J, Schofield P, Benzinger TLS, Morris JC, Goate A, Karch CM, Fagan AM, McDade E, Allegri R, Berman S, Chui H, Cruchaga C, Farlow M, Graff-Radford N, Jucker M, Lee JH, Martins RN, Mori H, Perrin R, Xiong C, Rossor M, Fox NC, O'Connor A, Salloway S, Danek A, Buerger K, Bateman RJ, Habeck C, Stern Y, Franzmeier N; Alzheimer’s Disease Neuroimaging Initiative and the Dominantly Inherited Alzheimer Network. Ewers M, et al. Among authors: karch cm. Brain. 2021 Aug 17;144(7):2176-2185. doi: 10.1093/brain/awab112. Brain. 2021. PMID: 33725114 Free PMC article.
Acetylated tau inhibits chaperone-mediated autophagy and promotes tau pathology propagation in mice.
Caballero B, Bourdenx M, Luengo E, Diaz A, Sohn PD, Chen X, Wang C, Juste YR, Wegmann S, Patel B, Young ZT, Kuo SY, Rodriguez-Navarro JA, Shao H, Lopez MG, Karch CM, Goate AM, Gestwicki JE, Hyman BT, Gan L, Cuervo AM. Caballero B, et al. Among authors: karch cm. Nat Commun. 2021 Apr 14;12(1):2238. doi: 10.1038/s41467-021-22501-9. Nat Commun. 2021. PMID: 33854069 Free PMC article.
Current directions in tau research: Highlights from Tau 2020.
Sexton C, Snyder H, Beher D, Boxer AL, Brannelly P, Brion JP, Buée L, Cacace AM, Chételat G, Citron M, DeVos SL, Diaz K, Feldman HH, Frost B, Goate AM, Gold M, Hyman B, Johnson K, Karch CM, Kerwin DR, Koroshetz WJ, Litvan I, Morris HR, Mummery CJ, Mutamba J, Patterson MC, Quiroz YT, Rabinovici GD, Rommel A, Shulman MB, Toledo-Sherman LM, Weninger S, Wildsmith KR, Worley SL, Carrillo MC. Sexton C, et al. Among authors: karch cm. Alzheimers Dement. 2022 May;18(5):988-1007. doi: 10.1002/alz.12452. Epub 2021 Sep 28. Alzheimers Dement. 2022. PMID: 34581500 Review.
Variant-dependent heterogeneity in amyloid β burden in autosomal dominant Alzheimer's disease: cross-sectional and longitudinal analyses of an observational study.
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Meningeal lymphatics affect microglia responses and anti-Aβ immunotherapy.
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Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation.
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iPSC-induced neurons with the V337M MAPT mutation are selectively vulnerable to caspase-mediated cleavage of tau and apoptotic cell death.
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Fully Human Bifunctional Intrabodies Achieve Graded Reduction of Intracellular Tau and Rescue Survival of MAPT Mutation iPSC-derived Neurons.
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Cell autonomous microglia defects in a stem cell model of frontotemporal dementia.
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m6A-dependent circular RNA formation mediates tau-induced neurotoxicity.
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Improved Protocol for Reproducible Human Cortical Organoids Reveals Early Alterations in Metabolism with MAPT Mutations.
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Endogenous recapitulation of Alzheimer's disease neuropathology through human 3D direct neuronal reprogramming.
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Generation of iPSC-derived human forebrain organoids assembling bilateral eye primordia.
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KATP channels are necessary for glucose-dependent increases in amyloid-β and Alzheimer's disease-related pathology.
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Axonal damage and astrocytosis are biological correlates of grey matter network integrity loss: a cohort study in autosomal dominant Alzheimer disease.
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Long non-coding RNA SNHG8 drives stress granule formation in tauopathies.
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Conserved gene signatures shared among MAPT mutations reveal defects in calcium signaling.
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MS4A4A modifies the risk of Alzheimer disease by regulating lipid metabolism and immune response in a unique microglia state.
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Small vessel disease more than Alzheimer's disease determines diffusion MRI alterations in memory clinic patients.
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