2016
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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. PMID: 26919393
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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. PMID: 27088644
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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. PMID: 27044074
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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. PMID: 27899424
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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. PMID: 26652843
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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:e20391. doi: 10.7554/eLife.20391. PMID: 27995897