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MAPT H1 Haplotype is Associated with Late-Onset Alzheimer's Disease Risk in APOEɛ4 Noncarriers: Results from the Dementia Genetics Spanish Consortium.
Pastor P, Moreno F, Clarimón J, Ruiz A, Combarros O, Calero M, López de Munain A, Bullido MJ, de Pancorbo MM, Carro E, Antonell A, Coto E, Ortega-Cubero S, Hernandez I, Tárraga L, Boada M, Lleó A, Dols-Icardo O, Kulisevsky J, Vázquez-Higuera JL, Infante J, Rábano A, Fernández-Blázquez MÁ, Valentí M, Indakoetxea B, Barandiarán M, Gorostidi A, Frank-García A, Sastre I, Lorenzo E, Pastor MA, Elcoroaristizabal X, Lennarz M, Maier W, Rámirez A, Serrano-Ríos M, Lee SE, Sánchez-Juan P; Dementia Genetic Spanish Consortium (DEGESCO). Pastor P, et al. Among authors: lee se. J Alzheimers Dis. 2016;49(2):343-52. doi: 10.3233/JAD-150555. J Alzheimers Dis. 2016. PMID: 26444794 Free article.
Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion.
Khan BK, Yokoyama JS, Takada LT, Sha SJ, Rutherford NJ, Fong JC, Karydas AM, Wu T, Ketelle RS, Baker MC, Hernandez MD, Coppola G, Geschwind DH, Rademakers R, Lee SE, Rosen HJ, Rabinovici GD, Seeley WW, Rankin KP, Boxer AL, Miller BL. Khan BK, et al. Among authors: lee se. J Neurol Neurosurg Psychiatry. 2012 Apr;83(4):358-64. doi: 10.1136/jnnp-2011-301883. J Neurol Neurosurg Psychiatry. 2012. PMID: 22399793 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: lee vm, lee jj, lee se. 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.
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. 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.
The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics.
Moreno F, Indakoetxea B, Barandiaran M, Caballero MC, Gorostidi A, Calafell F, Gabilondo A, Tainta M, Zulaica M, Martí Massó JF, López de Munain A, Sánchez-Juan P, Lee SE. Moreno F, et al. Among authors: lee se. PLoS One. 2017 Jun 8;12(6):e0178093. doi: 10.1371/journal.pone.0178093. eCollection 2017. PLoS One. 2017. PMID: 28594853 Free PMC article.
18F-flortaucipir (AV-1451) tau PET in frontotemporal dementia syndromes.
Tsai RM, Bejanin A, Lesman-Segev O, LaJoie R, Visani A, Bourakova V, O'Neil JP, Janabi M, Baker S, Lee SE, Perry DC, Bajorek L, Karydas A, Spina S, Grinberg LT, Seeley WW, Ramos EM, Coppola G, Gorno-Tempini ML, Miller BL, Rosen HJ, Jagust W, Boxer AL, Rabinovici GD. Tsai RM, et al. Among authors: lee se. Alzheimers Res Ther. 2019 Jan 31;11(1):13. doi: 10.1186/s13195-019-0470-7. Alzheimers Res Ther. 2019. PMID: 30704514 Free PMC article.
Frequency of the TREM2 R47H Variant in Various Neurodegenerative Disorders.
Ayer AH, Wojta K, Ramos EM, Dokuru D, Chen JA, Karydas AM, Papatriantafyllou JD, Agiomyrgiannakis D, Kamtsadeli V, Tsinia N, Sali D, Gylys KH, Agosta F, Filippi M, Small GW, Bennett DA, Gearing M, Juncos JL, Kramer J, Lee SE, Yokoyama JS, Mendez MF, Chui H, Zarow C, Ringman JM, Kilic U, Babacan-Yildiz G, Levey A, DeCarli CS, Cotman CW, Boxer AL, Miller BL, Coppola G. Ayer AH, et al. Among authors: lee se. Alzheimer Dis Assoc Disord. 2019 Oct-Dec;33(4):327-330. doi: 10.1097/WAD.0000000000000339. Alzheimer Dis Assoc Disord. 2019. PMID: 31513029 Free PMC article.
Rates of Brain Atrophy Across Disease Stages in Familial Frontotemporal Dementia Associated With MAPT, GRN, and C9orf72 Pathogenic Variants.
Staffaroni AM, Goh SM, Cobigo Y, Ong E, Lee SE, Casaletto KB, Wolf A, Forsberg LK, Ghoshal N, Graff-Radford NR, Grossman M, Heuer HW, Hsiung GR, Kantarci K, Knopman DS, Kremers WK, Mackenzie IR, Miller BL, Pedraza O, Rascovsky K, Tartaglia MC, Wszolek ZK, Kramer JH, Kornak J, Boeve BF, Boxer AL, Rosen HJ; ARTFL-LEFFTDS Longitudinal Frontotemporal Lobar Degeneration Consortium. Staffaroni AM, et al. Among authors: lee se. JAMA Netw Open. 2020 Oct 1;3(10):e2022847. doi: 10.1001/jamanetworkopen.2020.22847. JAMA Netw Open. 2020. PMID: 33112398 Free PMC article.
Temporal order of clinical and biomarker changes in familial frontotemporal dementia.
Staffaroni AM, Quintana M, Wendelberger B, Heuer HW, Russell LL, Cobigo Y, Wolf A, Goh SM, Petrucelli L, Gendron TF, Heller C, Clark AL, Taylor JC, Wise A, Ong E, Forsberg L, Brushaber D, Rojas JC, VandeVrede L, Ljubenkov P, Kramer J, Casaletto KB, Appleby B, Bordelon Y, Botha H, Dickerson BC, Domoto-Reilly K, Fields JA, Foroud T, Gavrilova R, Geschwind D, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grossman M, Hall MGH, Hsiung GY, Huey ED, Irwin D, Jones DT, Kantarci K, Kaufer D, Knopman D, Kremers W, Lago AL, Lapid MI, Litvan I, Lucente D, Mackenzie IR, Mendez MF, Mester C, Miller BL, Onyike CU, Rademakers R, Ramanan VK, Ramos EM, Rao M, Rascovsky K, Rankin KP, Roberson ED, Savica R, Tartaglia MC, Weintraub S, Wong B, Cash DM, Bouzigues A, Swift IJ, Peakman G, Bocchetta M, Todd EG, Convery RS, Rowe JB, Borroni B, Galimberti D, Tiraboschi P, Masellis M, Finger E, van Swieten JC, Seelaar H, Jiskoot LC, Sorbi S, Butler CR, Graff C, Gerhard A, Langheinrich T, Laforce R, Sanchez-Valle R, de Mendonça A, Moreno F, Synofzik M, Vandenberghe R, Ducharme S, Le Ber I, Levin J, Danek A, Otto M, Pasquier F, Santana I, Kornak J, Boeve BF, Rosen HJ, Rohrer JD, Boxer AL; Frontotempor… See abstract for full author list ➔ Staffaroni AM, et al. Nat Med. 2022 Oct;28(10):2194-2206. doi: 10.1038/s41591-022-01942-9. Epub 2022 Sep 22. Nat Med. 2022. PMID: 36138153 Free PMC article.
3,858 results