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Items: 40

1.

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).

Neurol Genet. 2018 Oct 1;4(5):e266. doi: 10.1212/NXG.0000000000000266. eCollection 2018 Oct.

2.

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.

Sci Rep. 2018 Sep 6;8(1):13373. doi: 10.1038/s41598-018-31075-4.

3.

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.

Alzheimers Res Ther. 2018 Jul 25;10(1):69. doi: 10.1186/s13195-018-0400-0.

4.

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.

Alzheimers Res Ther. 2018 Jul 18;10(1):67. doi: 10.1186/s13195-018-0392-9.

5.

Genetic variants associated with Alzheimer's disease confer different cerebral cortex cell-type population structure.

Li Z, Del-Aguila JL, Dube U, Budde J, Martinez R, Black K, Xiao Q, Cairns NJ; Dominantly Inherited Alzheimer Network (DIAN), Dougherty JD, Lee JM, Morris JC, Bateman RJ, Karch CM, Cruchaga C, Harari O.

Genome Med. 2018 Jun 8;10(1):43. doi: 10.1186/s13073-018-0551-4.

6.

Tau Kinetics in Neurons and the Human Central Nervous System.

Sato C, Barthélemy NR, Mawuenyega KG, Patterson BW, Gordon BA, Jockel-Balsarotti J, Sullivan M, Crisp MJ, Kasten T, Kirmess KM, Kanaan NM, Yarasheski KE, Baker-Nigh A, Benzinger TLS, Miller TM, Karch CM, Bateman RJ.

Neuron. 2018 May 16;98(4):861-864. doi: 10.1016/j.neuron.2018.04.035. No abstract available.

7.

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).

Transl Psychiatry. 2018 Apr 11;8(1):73. doi: 10.1038/s41398-017-0049-7.

8.

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.

JAMA Neurol. 2018 Jul 1;75(7):860-875. doi: 10.1001/jamaneurol.2018.0372.

9.

Tau Kinetics in Neurons and the Human Central Nervous System.

Sato C, Barthélemy NR, Mawuenyega KG, Patterson BW, Gordon BA, Jockel-Balsarotti J, Sullivan M, Crisp MJ, Kasten T, Kirmess KM, Kanaan NM, Yarasheski KE, Baker-Nigh A, Benzinger TLS, Miller TM, Karch CM, Bateman RJ.

Neuron. 2018 Mar 21;97(6):1284-1298.e7. doi: 10.1016/j.neuron.2018.02.015. Erratum in: Neuron. 2018 May 16;98 (4):861-864.

PMID:
29566794
10.

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.

PLoS Med. 2018 Jan 29;15(1):e1002504. doi: 10.1371/journal.pmed.1002504. eCollection 2018 Jan.

11.

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.

Genome Med. 2018 Jan 12;10(1):4. doi: 10.1186/s13073-018-0516-7.

12.

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.

PLoS Med. 2018 Jan 9;15(1):e1002487. doi: 10.1371/journal.pmed.1002487. eCollection 2018 Jan. Erratum in: PLoS Med. 2018 Jan 29;15(1):e1002504.

13.

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.

Genome Med. 2017 Nov 29;9(1):100. doi: 10.1186/s13073-017-0486-1. Erratum in: Genome Med. 2018 Jan 12;10 (1):4.

14.

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.

Acta Neuropathol. 2018 Jan;135(1):85-93. doi: 10.1007/s00401-017-1789-4. Epub 2017 Nov 24.

15.

Scalable Production of iPSC-Derived Human Neurons to Identify Tau-Lowering Compounds by High-Content Screening.

Wang C, Ward ME, Chen R, Liu K, Tracy TE, Chen X, Xie M, Sohn PD, Ludwig C, Meyer-Franke A, Karch CM, Ding S, Gan L.

Stem Cell Reports. 2017 Oct 10;9(4):1221-1233. doi: 10.1016/j.stemcr.2017.08.019. Epub 2017 Sep 28.

16.

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.

Stem Cell Reports. 2017 Aug 8;9(2):600-614. doi: 10.1016/j.stemcr.2017.06.018. Epub 2017 Jul 27.

17.

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.

PLoS Med. 2017 Mar 21;14(3):e1002258. doi: 10.1371/journal.pmed.1002258. eCollection 2017 Mar. Erratum in: PLoS Med. 2017 Mar 28;14 (3):e1002289.

18.

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.

Acta Neuropathol. 2017 May;133(5):825-837. doi: 10.1007/s00401-017-1693-y. Epub 2017 Mar 7.

19.

Neurodegenerative disease mutations in TREM2 reveal a functional surface and distinct loss-of-function mechanisms.

Kober DL, Alexander-Brett JM, Karch CM, Cruchaga C, Colonna M, Holtzman MJ, Brett TJ.

Elife. 2016 Dec 20;5. pii: e20391. doi: 10.7554/eLife.20391.

20.

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.

J Neurol Neurosurg Psychiatry. 2017 Feb;88(2):152-164. doi: 10.1136/jnnp-2016-314411. Epub 2016 Nov 29.

21.

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.

JAMA Neurol. 2016 Jun 1;73(6):691-7. doi: 10.1001/jamaneurol.2016.0150.

22.

BKCa channel regulates calcium oscillations induced by alpha-2-macroglobulin in human myometrial smooth muscle cells.

Wakle-Prabagaran M, Lorca RA, Ma X, Stamnes SJ, Amazu C, Hsiao JJ, Karch CM, Hyrc KL, Wright ME, England SK.

Proc Natl Acad Sci U S A. 2016 Apr 19;113(16):E2335-44. doi: 10.1073/pnas.1516863113. Epub 2016 Apr 4.

23.

Alzheimer's Disease Risk Polymorphisms Regulate Gene Expression in the ZCWPW1 and the CELF1 Loci.

Karch CM, Ezerskiy LA, Bertelsen S; Alzheimer’s Disease Genetics Consortium (ADGC), Goate AM.

PLoS One. 2016 Feb 26;11(2):e0148717. doi: 10.1371/journal.pone.0148717. eCollection 2016.

24.

Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features.

Karch CM, Ezerskiy L, Redaelli V, Giovagnoli AR, Tiraboschi P, Pelliccioni G, Pelliccioni P, Kapetis D, D'Amato I, Piccoli E, Ferretti MG, Tagliavini F, Rossi G.

Neurobiol Aging. 2016 Feb;38:215.e1-215.e12. doi: 10.1016/j.neurobiolaging.2015.10.029. Epub 2015 Nov 2.

25.

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.

PLoS Genet. 2014 Oct 23;10(10):e1004758. doi: 10.1371/journal.pgen.1004758. eCollection 2014 Oct.

26.

Alzheimer's disease genetics: from the bench to the clinic.

Karch CM, Cruchaga C, Goate AM.

Neuron. 2014 Jul 2;83(1):11-26. doi: 10.1016/j.neuron.2014.05.041. Review.

27.

Alzheimer's disease risk genes and mechanisms of disease pathogenesis.

Karch CM, Goate AM.

Biol Psychiatry. 2015 Jan 1;77(1):43-51. doi: 10.1016/j.biopsych.2014.05.006. Epub 2014 May 17. Review.

28.

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.

Hum Mol Genet. 2014 Nov 1;23(21):5838-46. doi: 10.1093/hmg/ddu277. Epub 2014 Jun 4.

29.

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.

Nature. 2014 Jan 23;505(7484):550-554. doi: 10.1038/nature12825. Epub 2013 Dec 11.

30.

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.

PLoS Genet. 2013;9(8):e1003685. doi: 10.1371/journal.pgen.1003685. Epub 2013 Aug 22.

31.

Novel progranulin variants do not disrupt progranulin secretion and cleavage.

Karch CM, Jeng AT, Skorupa T, Cruchaga C, Goate AM.

Neurobiol Aging. 2013 Nov;34(11):2538-40. doi: 10.1016/j.neurobiolaging.2013.05.004. Epub 2013 Jun 4.

32.

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.

Neuron. 2013 Apr 24;78(2):256-68. doi: 10.1016/j.neuron.2013.02.026. Epub 2013 Apr 4.

33.

Expression of novel Alzheimer's disease risk genes in control and Alzheimer's disease brains.

Karch CM, Jeng AT, Nowotny P, Cady J, Cruchaga C, Goate AM.

PLoS One. 2012;7(11):e50976. doi: 10.1371/journal.pone.0050976. Epub 2012 Nov 30.

34.

Extracellular Tau levels are influenced by variability in Tau that is associated with tauopathies.

Karch CM, Jeng AT, Goate AM.

J Biol Chem. 2012 Dec 14;287(51):42751-62. doi: 10.1074/jbc.M112.380642. Epub 2012 Oct 26.

35.

Calcium phosphatase calcineurin influences tau metabolism.

Karch CM, Jeng AT, Goate AM.

Neurobiol Aging. 2013 Feb;34(2):374-86. doi: 10.1016/j.neurobiolaging.2012.05.003. Epub 2012 Jun 6.

36.

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.

PLoS One. 2011 Feb 9;6(2):e15918. doi: 10.1371/journal.pone.0015918.

37.

Aggregation modulating elements in mutant human superoxide dismutase 1.

Karch CM, Borchelt DR.

Arch Biochem Biophys. 2010 Nov 15;503(2):175-82. doi: 10.1016/j.abb.2010.07.027. Epub 2010 Aug 2.

38.

An examination of alpha B-crystallin as a modifier of SOD1 aggregate pathology and toxicity in models of familial amyotrophic lateral sclerosis.

Karch CM, Borchelt DR.

J Neurochem. 2010 Jun;113(5):1092-100. doi: 10.1111/j.1471-4159.2010.06572.x. Epub 2010 Jan 7.

39.

Role of mutant SOD1 disulfide oxidation and aggregation in the pathogenesis of familial ALS.

Karch CM, Prudencio M, Winkler DD, Hart PJ, Borchelt DR.

Proc Natl Acad Sci U S A. 2009 May 12;106(19):7774-9. doi: 10.1073/pnas.0902505106. Epub 2009 Apr 30.

40.

A limited role for disulfide cross-linking in the aggregation of mutant SOD1 linked to familial amyotrophic lateral sclerosis.

Karch CM, Borchelt DR.

J Biol Chem. 2008 May 16;283(20):13528-37. doi: 10.1074/jbc.M800564200. Epub 2008 Mar 3.

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