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Induced pluripotent stem cell models of progranulin-deficient frontotemporal dementia uncover specific reversible neuronal defects.
Almeida S, Zhang Z, Coppola G, Mao W, Futai K, Karydas A, Geschwind MD, Tartaglia MC, Gao F, Gianni D, Sena-Esteves M, Geschwind DH, Miller BL, Farese RV Jr, Gao FB. Almeida S, et al. Among authors: geschwind dh, geschwind md. Cell Rep. 2012 Oct 25;2(4):789-98. doi: 10.1016/j.celrep.2012.09.007. Epub 2012 Oct 11. Cell Rep. 2012. PMID: 23063362 Free PMC article.
Neurodegenerative disease phenotypes in carriers of MAPT p.A152T, a risk factor for frontotemporal dementia spectrum disorders and Alzheimer disease.
Lee SE, Tartaglia MC, Yener G, Genç S, Seeley WW, Sanchez-Juan P, Moreno F, Mendez MF, Klein E, Rademakers R, López de Munain A, Combarros O, Kramer JH, Kenet RO, Boxer AL, Geschwind MD, Gorno-Tempini ML, Karydas AM, Rabinovici GD, Coppola G, Geschwind DH, Miller BL. Lee SE, et al. Among authors: geschwind dh, geschwind md. Alzheimer Dis Assoc Disord. 2013 Oct-Dec;27(4):302-9. doi: 10.1097/WAD.0b013e31828cc357. Alzheimer Dis Assoc Disord. 2013. PMID: 23518664 Free PMC article.
An epigenetic signature in peripheral blood associated with the haplotype on 17q21.31, a risk factor for neurodegenerative tauopathy.
Li Y, Chen JA, Sears RL, Gao F, Klein ED, Karydas A, Geschwind MD, Rosen HJ, Boxer AL, Guo W, Pellegrini M, Horvath S, Miller BL, Geschwind DH, Coppola G. Li Y, et al. Among authors: geschwind dh, geschwind md. PLoS Genet. 2014 Mar 6;10(3):e1004211. doi: 10.1371/journal.pgen.1004211. eCollection 2014 Mar. PLoS Genet. 2014. PMID: 24603599 Free PMC article.
Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases.
Coppola G, Chinnathambi S, Lee JJ, Dombroski BA, Baker MC, Soto-Ortolaza AI, Lee SE, Klein E, Huang AY, Sears R, Lane JR, Karydas AM, Kenet RO, Biernat J, Wang LS, Cotman CW, Decarli CS, Levey AI, Ringman JM, Mendez MF, Chui HC, Le Ber I, Brice A, Lupton MK, Preza E, Lovestone S, Powell J, Graff-Radford N, Petersen RC, Boeve BF, Lippa CF, Bigio EH, Mackenzie I, Finger E, Kertesz A, Caselli RJ, Gearing M, Juncos JL, Ghetti B, Spina S, Bordelon YM, Tourtellotte WW, Frosch MP, Vonsattel JP, Zarow C, Beach TG, Albin RL, Lieberman AP, Lee VM, Trojanowski JQ, Van Deerlin VM, Bird TD, Galasko DR, Masliah E, White CL, Troncoso JC, Hannequin D, Boxer AL, Geschwind MD, Kumar S, Mandelkow EM, Wszolek ZK, Uitti RJ, Dickson DW, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA; Alzheimer's Disease Genetics Consortium; Ross OA, Rademakers R, Schellenberg GD, Miller BL, Mandelkow E, Geschwind DH. Coppola G, et al. Among authors: geschwind dh, geschwind md. Hum Mol Genet. 2012 Aug 1;21(15):3500-12. doi: 10.1093/hmg/dds161. Epub 2012 May 3. Hum Mol Genet. 2012. PMID: 22556362 Free PMC article.
Rapidly progressive dementia.
Geschwind MD, Haman A, Miller BL. Geschwind MD, et al. Neurol Clin. 2007 Aug;25(3):783-807, vii. doi: 10.1016/j.ncl.2007.04.001. Neurol Clin. 2007. PMID: 17659190 Free PMC article. Review.
Clinical overlap between Jakob-Creutzfeldt disease and Lewy body disease.
Tartaglia MC, Johnson DY, Thai JN, Cattaruzza T, Wong K, Garcia P, Dearmond SJ, Miller BL, Geschwind MD. Tartaglia MC, et al. Among authors: geschwind md. Can J Neurol Sci. 2012 May;39(3):304-10. doi: 10.1017/s0317167100013421. Can J Neurol Sci. 2012. PMID: 22547509 Free PMC article.
Rapidly progressive dementia.
Geschwind MD, Shu H, Haman A, Sejvar JJ, Miller BL. Geschwind MD, et al. Ann Neurol. 2008 Jul;64(1):97-108. doi: 10.1002/ana.21430. Ann Neurol. 2008. PMID: 18668637 Free PMC article. Review.
183 results