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Journal Abstract Search

234 related items for PubMed ID: 27767988

  • 1. A Novel Loss-of-Function GRN Mutation p.(Tyr229*): Clinical and Neuropathological Features.
    Kuuluvainen L, Pöyhönen M, Pasanen P, Siitonen M, Rummukainen J, Tienari PJ, Paetau A, Myllykangas L.
    J Alzheimers Dis; 2017; 55(3):1167-1174. PubMed ID: 27767988
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  • 2. Brain progranulin expression in GRN-associated frontotemporal lobar degeneration.
    Chen-Plotkin AS, Xiao J, Geser F, Martinez-Lage M, Grossman M, Unger T, Wood EM, Van Deerlin VM, Trojanowski JQ, Lee VM.
    Acta Neuropathol; 2010 Jan; 119(1):111-22. PubMed ID: 19649643
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  • 3. Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.
    Chen-Plotkin AS, Martinez-Lage M, Sleiman PM, Hu W, Greene R, Wood EM, Bing S, Grossman M, Schellenberg GD, Hatanpaa KJ, Weiner MF, White CL, Brooks WS, Halliday GM, Kril JJ, Gearing M, Beach TG, Graff-Radford NR, Dickson DW, Rademakers R, Boeve BF, Pickering-Brown SM, Snowden J, van Swieten JC, Heutink P, Seelaar H, Murrell JR, Ghetti B, Spina S, Grafman J, Kaye JA, Woltjer RL, Mesulam M, Bigio E, Lladó A, Miller BL, Alzualde A, Moreno F, Rohrer JD, Mackenzie IR, Feldman HH, Hamilton RL, Cruts M, Engelborghs S, De Deyn PP, Van Broeckhoven C, Bird TD, Cairns NJ, Goate A, Frosch MP, Riederer PF, Bogdanovic N, Lee VM, Trojanowski JQ, Van Deerlin VM.
    Arch Neurol; 2011 Apr; 68(4):488-97. PubMed ID: 21482928
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  • 4. Expression of TMEM106B, the frontotemporal lobar degeneration-associated protein, in normal and diseased human brain.
    Busch JI, Martinez-Lage M, Ashbridge E, Grossman M, Van Deerlin VM, Hu F, Lee VM, Trojanowski JQ, Chen-Plotkin AS.
    Acta Neuropathol Commun; 2013 Jul 11; 1():36. PubMed ID: 24252750
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  • 6. A novel GRN mutation (GRN c.708+6_+9delTGAG) in frontotemporal lobar degeneration with TDP-43-positive inclusions: clinicopathologic report of 6 cases.
    Bit-Ivan EN, Suh E, Shim HS, Weintraub S, Hyman BT, Arnold SE, McCarty-Wood E, Van Deerlin VM, Schneider JA, Trojanowski JQ, Frosch MP, Baker MC, Rademakers R, Mesulam M, Bigio EH.
    J Neuropathol Exp Neurol; 2014 May 11; 73(5):467-73. PubMed ID: 24709683
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  • 7. Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration.
    Chiang HH, Forsell C, Lilius L, Öijerstedt L, Thordardottir S, Shanmugarajan K, Westerlund M, Nennesmo I, Thonberg H, Graff C.
    Eur J Hum Genet; 2013 Nov 11; 21(11):1260-5. PubMed ID: 23463024
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  • 8. Extended FTLD pedigree segregating a Belgian GRN-null mutation: neuropathological heterogeneity in one family.
    Sieben A, Van Mossevelde S, Wauters E, Engelborghs S, van der Zee J, Van Langenhove T, Santens P, Praet M, Boon P, Miatton M, Van Hoecke S, Vandenbulcke M, Vandenberghe R, Cras P, Cruts M, De Deyn PP, Van Broeckhoven C, Martin JJ.
    Alzheimers Res Ther; 2018 Jan 22; 10(1):7. PubMed ID: 29370838
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  • 11. A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.
    Beck J, Rohrer JD, Campbell T, Isaacs A, Morrison KE, Goodall EF, Warrington EK, Stevens J, Revesz T, Holton J, Al-Sarraj S, King A, Scahill R, Warren JD, Fox NC, Rossor MN, Collinge J, Mead S.
    Brain; 2008 Mar 22; 131(Pt 3):706-20. PubMed ID: 18234697
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  • 13. A Novel Splice-Acceptor Site Mutation in GRN (c.709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy.
    Sassi C, Capozzo R, Gibbs R, Crews C, Zecca C, Arcuti S, Copetti M, Barulli MR, Brescia V, Singleton AB, Logroscino G.
    J Alzheimers Dis; 2016 May 30; 53(2):475-85. PubMed ID: 27258413
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  • 15. Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.
    Pottier C, Zhou X, Perkerson RB, Baker M, Jenkins GD, Serie DJ, Ghidoni R, Benussi L, Binetti G, López de Munain A, Zulaica M, Moreno F, Le Ber I, Pasquier F, Hannequin D, Sánchez-Valle R, Antonell A, Lladó A, Parsons TM, Finch NA, Finger EC, Lippa CF, Huey ED, Neumann M, Heutink P, Synofzik M, Wilke C, Rissman RA, Slawek J, Sitek E, Johannsen P, Nielsen JE, Ren Y, van Blitterswijk M, DeJesus-Hernandez M, Christopher E, Murray ME, Bieniek KF, Evers BM, Ferrari C, Rollinson S, Richardson A, Scarpini E, Fumagalli GG, Padovani A, Hardy J, Momeni P, Ferrari R, Frangipane F, Maletta R, Anfossi M, Gallo M, Petrucelli L, Suh E, Lopez OL, Wong TH, van Rooij JGJ, Seelaar H, Mead S, Caselli RJ, Reiman EM, Noel Sabbagh M, Kjolby M, Nykjaer A, Karydas AM, Boxer AL, Grinberg LT, Grafman J, Spina S, Oblak A, Mesulam MM, Weintraub S, Geula C, Hodges JR, Piguet O, Brooks WS, Irwin DJ, Trojanowski JQ, Lee EB, Josephs KA, Parisi JE, Ertekin-Taner N, Knopman DS, Nacmias B, Piaceri I, Bagnoli S, Sorbi S, Gearing M, Glass J, Beach TG, Black SE, Masellis M, Rogaeva E, Vonsattel JP, Honig LS, Kofler J, Bruni AC, Snowden J, Mann D, Pickering-Brown S, Diehl-Schmid J, Winkelmann J, Galimberti D, Graff C, Öijerstedt L, Troakes C, Al-Sarraj S, Cruchaga C, Cairns NJ, Rohrer JD, Halliday GM, Kwok JB, van Swieten JC, White CL, Ghetti B, Murell JR, Mackenzie IRA, Hsiung GR, Borroni B, Rossi G, Tagliavini F, Wszolek ZK, Petersen RC, Bigio EH, Grossman M, Van Deerlin VM, Seeley WW, Miller BL, Graff-Radford NR, Boeve BF, Dickson DW, Biernacka JM, Rademakers R.
    Lancet Neurol; 2018 Jun 30; 17(6):548-558. PubMed ID: 29724592
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  • 16. Progranulin deficiency induces overactivation of WNT5A expression via TNF-α/NF-κB pathway in peripheral cells from frontotemporal dementia-linked granulin mutation carriers.
    Alquézar C, de la Encarnación A, Moreno F, López de Munain A, Martín-Requero Á.
    J Psychiatry Neurosci; 2016 Jun 30; 41(4):225-39. PubMed ID: 26624524
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  • 17. Amygdala TDP-43 Pathology in Frontotemporal Lobar Degeneration and Motor Neuron Disease.
    Takeda T, Seilhean D, Le Ber I, Millecamps S, Sazdovitch V, Kitagawa K, Uchihara T, Duyckaerts C.
    J Neuropathol Exp Neurol; 2017 Sep 01; 76(9):800-812. PubMed ID: 28859337
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  • 18. Rare exonic variant affects GRN splicing and contributes to frontotemporal lobar degeneration.
    Wauters E, Gossye H, Frydas A, Sieben A, Van Broeckhoven C.
    Neurobiol Aging; 2023 Oct 01; 130():61-69. PubMed ID: 37459659
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  • 19. Association of the variant Cys139Arg at GRN gene to the clinical spectrum of frontotemporal lobar degeneration.
    Piaceri I, Pradella S, Cupidi C, Nannucci S, Polito C, Bagnoli S, Tedde A, Smirne N, Anfossi M, Gallo M, Bernardi L, Colao R, Maletta R, Bruni AC, Sorbi S, Nacmias B.
    J Alzheimers Dis; 2014 Oct 01; 40(3):679-85. PubMed ID: 24503614
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  • 20. A quantitative study of the neuropathology of 32 sporadic and familial cases of frontotemporal lobar degeneration with TDP-43 proteinopathy (FTLD-TDP).
    Armstrong RA, Carter D, Cairns NJ.
    Neuropathol Appl Neurobiol; 2012 Feb 01; 38(1):25-38. PubMed ID: 21696412
    [Abstract] [Full Text] [Related]

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