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Page 1
HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin.
Mukherjee O, Pastor P, Cairns NJ, Chakraverty S, Kauwe JS, Shears S, Behrens MI, Budde J, Hinrichs AL, Norton J, Levitch D, Taylor-Reinwald L, Gitcho M, Tu PH, Tenenholz Grinberg L, Liscic RM, Armendariz J, Morris JC, Goate AM. Mukherjee O, et al. Among authors: pastor p. Ann Neurol. 2006 Sep;60(3):314-22. doi: 10.1002/ana.20963. Ann Neurol. 2006. PMID: 16983685 Free PMC article.
A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease.
Zarranz JJ, Ferrer I, Lezcano E, Forcadas MI, Eizaguirre B, Atarés B, Puig B, Gómez-Esteban JC, Fernández-Maiztegui C, Rouco I, Pérez-Concha T, Fernández M, Rodríguez O, Rodríguez-Martínez AB, de Pancorbo MM, Pastor P, Pérez-Tur J. Zarranz JJ, et al. Among authors: pastor p. Neurology. 2005 May 10;64(9):1578-85. doi: 10.1212/01.WNL.0000160116.65034.12. Neurology. 2005. PMID: 15883319
Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration.
Rollinson S, Rizzu P, Sikkink S, Baker M, Halliwell N, Snowden J, Traynor BJ, Ruano D, Cairns N, Rohrer JD, Mead S, Collinge J, Rossor M, Akay E, Guerreiro R, Rademakers R, Morrison KE, Pastor P, Alonso E, Martinez-Lage P, Graff-Radford N, Neary D, Heutink P, Mann DM, Van Swieten J, Pickering-Brown SM. Rollinson S, et al. Among authors: pastor p. Neurobiol Aging. 2009 Apr;30(4):656-65. doi: 10.1016/j.neurobiolaging.2009.01.009. Epub 2009 Feb 12. Neurobiol Aging. 2009. PMID: 19217189 Free PMC article.
Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort.
Jin SC, Pastor P, Cooper B, Cervantes S, Benitez BA, Razquin C, Goate A; Ibero-American Alzheimer Disease Genetics Group Researchers; Cruchaga C. Jin SC, et al. Among authors: pastor p. Alzheimers Res Ther. 2012 Aug 20;4(4):34. doi: 10.1186/alzrt137. Alzheimers Res Ther. 2012. PMID: 22906081 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: pastor p. Nature. 2014 Jan 23;505(7484):550-554. doi: 10.1038/nature12825. Epub 2013 Dec 11. Nature. 2014. PMID: 24336208 Free PMC article.
Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.
Escott-Price V, Bellenguez C, Wang LS, Choi SH, Harold D, Jones L, Holmans P, Gerrish A, Vedernikov A, Richards A, DeStefano AL, Lambert JC, Ibrahim-Verbaas CA, Naj AC, Sims R, Jun G, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Denning N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Schmidt H, Kunkle B, Dunstan ML, Vronskaya M; United Kingdom Brain Expression Consortium; Johnson AD, Ruiz A, Bihoreau MT, Reitz C, Pasquier F, Hollingworth P, Hanon O, Fitzpatrick AL, Buxbaum JD, Campion D, Crane PK, Baldwin C, Becker T, Gudnason V, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Hernández I, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fiévet N, Huentelman MJ, Gill M, Brown K, Kamboh MI, Keller L, Barberger-Gateau P, McGuinness B, Larson EB, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, George-Hyslop PS, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Garcia FS, Fox NC, Hardy J, Naranjo MC, Bosco P, Clarke R, Brayne C, Galimberti D, Scarpini E, Bonucc… See abstract for full author list ➔ Escott-Price V, et al. Among authors: pastor p. PLoS One. 2014 Jun 12;9(6):e94661. doi: 10.1371/journal.pone.0094661. eCollection 2014. PLoS One. 2014. PMID: 24922517 Free PMC article.
Frontotemporal dementia and its subtypes: a genome-wide association study.
Ferrari R, Hernandez DG, Nalls MA, Rohrer JD, Ramasamy A, Kwok JB, Dobson-Stone C, Brooks WS, Schofield PR, Halliday GM, Hodges JR, Piguet O, Bartley L, Thompson E, Haan E, Hernández I, Ruiz A, Boada M, Borroni B, Padovani A, Cruchaga C, Cairns NJ, Benussi L, Binetti G, Ghidoni R, Forloni G, Galimberti D, Fenoglio C, Serpente M, Scarpini E, Clarimón J, Lleó A, Blesa R, Waldö ML, Nilsson K, Nilsson C, Mackenzie IR, Hsiung GY, Mann DM, Grafman J, Morris CM, Attems J, Griffiths TD, McKeith IG, Thomas AJ, Pietrini P, Huey ED, Wassermann EM, Baborie A, Jaros E, Tierney MC, Pastor P, Razquin C, Ortega-Cubero S, Alonso E, Perneczky R, Diehl-Schmid J, Alexopoulos P, Kurz A, Rainero I, Rubino E, Pinessi L, Rogaeva E, St George-Hyslop P, Rossi G, Tagliavini F, Giaccone G, Rowe JB, Schlachetzki JC, Uphill J, Collinge J, Mead S, Danek A, Van Deerlin VM, Grossman M, Trojanowski JQ, van der Zee J, Deschamps W, Van Langenhove T, Cruts M, Van Broeckhoven C, Cappa SF, Le Ber I, Hannequin D, Golfier V, Vercelletto M, Brice A, Nacmias B, Sorbi S, Bagnoli S, Piaceri I, Nielsen JE, Hjermind LE, Riemenschneider M, Mayhaus M, Ibach B, Gasparoni G, Pichler S, Gu W, Rossor MN, Fox NC, Warren JD, Sp… See abstract for full author list ➔ Ferrari R, et al. Among authors: pastor p. Lancet Neurol. 2014 Jul;13(7):686-99. doi: 10.1016/S1474-4422(14)70065-1. Lancet Neurol. 2014. PMID: 24943344 Free PMC article.
435 results