| 1 | C9orf72, FTDP17, FTDU17, GRN, MAPT
|
| Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics.
|
| Whitwell JL, Weigand SD, Boeve BF, Senjem ML, Gunter JL, DeJesus-Hernandez M, Rutherford NJ, Baker M, Knopman DS, Wszolek ZK, Parisi JE, Dickson DW, Petersen RC, Rademakers R, Jack CR Jr, Josephs KA.
|
| Brain 135(Pt 3):794-806. doi: 10.1093/brain/aws001. 2012
|
| 2 | FTDU17, GRN
|
| Progranulin: an emerging target for FTLD therapies.
|
| Gass J, Prudencio M, Stetler C, Petrucelli L.
|
| Brain Res 1462:118-28. doi: 10.1016/j.brainres.2012.01.047. Epub 2012 Jan 28. Review.
2012
|
| 3 | FTDU17, GRN
|
| A neurodegenerative disease mutation that accelerates the clearance of apoptotic cells.
|
| Kao AW, Eisenhut RJ, Martens LH, Nakamura A, Huang A, Bagley JA, Zhou P, de Luis A, Neukomm LJ, Cabello J, Farese RV Jr, Kenyon C.
|
| Proc Natl Acad Sci U S A 108(11):4441-6. Epub 2011 Feb 28.
2011
|
| 4 | FTD3, FTDP17, FTDU17, FTLD
|
| Suberoylanilide hydroxamic acid (vorinostat) up-regulates progranulin transcription: rational therapeutic approach to frontotemporal dementia.
|
| Cenik B, Sephton CF, Dewey CM, Xian X, Wei S, Yu K, Niu W, Coppola G, Coughlin SE, Lee SE, Dries DR, Almeida S, Geschwind DH, Gao FB, Miller BL, Farese RV Jr, Posner BA, Yu G, Herz J.
|
| J Biol Chem 286(18):16101-8. Epub 2011 Mar 23.
2011
|
| 5 | FTDU17, GRN
|
| Altered microRNA expression in frontotemporal lobar degeneration with TDP-43 pathology caused by progranulin mutations.
|
| Kocerha J, Kouri N, Baker M, Finch N, DeJesus-Hernandez M, Gonzalez J, Chidamparam K, Josephs KA, Boeve BF, Graff-Radford NR, Crook J, Dickson DW, Rademakers R.
|
| BMC Genomics 12:527. doi: 10.1186/1471-2164-12-527.
2011
|
| 6 | GRN, FTDU17
|
| Progranulin locus deletion in frontotemporal dementia.
|
| Gijselinck I, van der Zee J, Engelborghs S, Goossens D, Peeters K, Mattheijssens M, Corsmit E, Del-Favero J, De Deyn PP, Van Broeckhoven C, Cruts M.
|
| Hum Mutat 29(1):53-8. 2008
|
| 7 | GRN, FTDU17, TARDBP
|
| Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion.
|
| Shankaran SS, Capell A, Hruscha AT, Fellerer K, Neumann M, Schmid B, Haass C.
|
| J Biol Chem 283(3):1744-53. Epub 2007 Nov 5. 2008
|
| 8 | GRN, FTDU17
|
| Loss of progranulin function in frontotemporal lobar degeneration.
|
| Cruts M, Van Broeckhoven C.
|
| Trends Genet 24(4):186-94. Epub 2008 Mar 6. 2008
|
| 9 | GRN, FTDU17
|
| Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia.
|
| Mukherjee O, Wang J, Gitcho M, Chakraverty S, Taylor-Reinwald L, Shears S, Kauwe JS, Norton J, Levitch D, Bigio EH, Hatanpaa KJ, White CL, Morris JC, Cairns NJ, Goate A.
|
| Hum Mutat 29(4):512-21. 2008
|
| 10 | FTDU17, GRN
|
| Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update.
|
| Gijselinck I, Van Broeckhoven C, Cruts M.
|
| Hum Mutat 29(12):1373-86.
2008
|
| 11 | FTDU17, GRN
|
| Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.
|
| Le Ber I, Camuzat A, Hannequin D, Pasquier F, Guedj E, Rovelet-Lecrux A, Hahn-Barma V, van der Zee J, Clot F, Bakchine S, Puel M, Ghanim M, Lacomblez L, Mikol J, Deramecourt V, Lejeune P, de la Sayette V, Belliard S, Vercelletto M, Meyrignac C, Van Broeckhoven C, Lambert JC, Verpillat P, Campion D, Habert MO, Dubois B, Brice A; French research network on FTD/FTD-MND.
|
| Brain 131(Pt 3):732-46. Epub 2008 Feb 1.PMID: 18245784 2008
|
| 12 | FTDU17,GRN
|
| Progranulin mutations in Dutch familial frontotemporal lobar degeneration.
|
| Bronner IF, Rizzu P, Seelaar H, van Mil SE, Anar B, Azmani A, Kaat LD, Rosso S, Heutink P, van Swieten JC.
|
| Eur J Hum Genet 15(3):369-74. Epub 2007 Jan 17. 2007
|
| 13 | FTDU17,GRN
|
| Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia.
|
| van der Zee J, Le Ber I, Maurer-Stroh S, Engelborghs S, Gijselinck I, Camuzat A, Brouwers N, Vandenberghe R, Sleegers K, Hannequin D, Dermaut B, Schymkowitz J, Campion D, Santens P, Martin JJ, Lacomblez L, De Pooter T, Peeters K, Mattheijssens M, Vercelletto M, Van den Broeck M, Cruts M, De Deyn PP, Rousseau F, Brice A, Van Broeckhoven C.
|
| Hum Mutat 28(4):416 [Epub ahead of print] 2007
|
| 14 | GRN, FTDU17
|
| Progranulin null mutations in both sporadic and familial frontotemporal dementia.
|
| Le Ber I, van der Zee J, Hannequin D, Gijselinck I, Campion D, Puel M, Laquerriere A, De Pooter T, Camuzat A, Van den Broeck M, Dubois B, Sellal F, Lacomblez L, Vercelletto M, Thomas-Anterion C, Michel BF, Golfier V, Didic M, Salachas F, Duyckaerts C, Cruts M, Verpillat P, Van Broeckhoven C, Brice A; French Research Network on FTD/FTD-MND.
|
| Hum Mutat 28(9):846-55. 2007
|
| 15 | FTDU17, GRN
|
| Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations.
|
| Josephs KA, Ahmed Z, Katsuse O, Parisi JF, Boeve BF, Knopman DS, Petersen RC, Davies P, Duara R, Graff-Radford NR, Uitti RJ, Rademakers R, Adamson J, Baker M, Hutton ML, Dickson DW.
|
| J Neuropathol Exp Neurol 66(2):142-51.
2007
|
| 16 | FTDU17, GRN
|
| Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation.
|
| Bruni AC, Momeni P, Bernardi L, Tomaino C, Frangipane F, Elder J, Kawarai T, Sato C, Pradella S, Wakutani Y, Anfossi M, Gallo M, Geracitano S, Costanzo A, Smirne N, Curcio SA, Mirabelli M, Puccio G, Colao R, Maletta RG, Kertesz A, St George-Hyslop P, Hardy J, Rogaeva E.
|
| Neurology 69(2):140-7.
2007
|
| 17 | FTDU17, GRN
|
| The neuropathology and clinical phenotype of FTD with progranulin mutations.
|
| Mackenzie IR.
|
| Acta Neuropathol 114(1):49-54. Epub 2007 Apr 26. Review.
2007
|
| 18 | DYT3, FTDP17, FTDU17, FXTAS, LRRK2, MAPT, PARK1, PARK4, PARK5, PARK6, PARK7, PARK8, PINK1, PRKN, PSRP, SNCA, UCHL1
|
| Genetics of Parkinson disease: paradigm shifts and future prospects.
|
| Farrer MJ.
|
| Nat Rev Genet 7(4):306-18. 2006
|
| 19 | FTDU17,GRN
|
| Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17.
|
| Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C, Snowden J, Adamson J, Sadovnick AD, Rollinson S, Cannon A, Dwosh E, Neary D, Melquist S, Richardson A, Dickson D, Berger Z, Eriksen J, Robinson T, Zehr C, Dickey CA, Crook R, McGowan E, Mann D, Boeve B, Feldman H, Hutton M.
|
| Nature 442(7105):916-9. Epub 2006 Jul 16. 2006
|
| 20 | FTDU17,GRN
|
| Bad neighbors cause dementia; a second 17q21-linked gene responsible for frontotemporal dementia.
|
| Neal SJ, Leavitt BR.
|
| Clin Genet 70(5):385-7. No abstract available. 2006
|
| 21 | FTDU17,GRN
|
| Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21.
|
| Cruts M, Gijselinck I, van der Zee J, Engelborghs S, Wils H, Pirici D, Rademakers R, Vandenberghe R, Dermaut B, Martin JJ, van Duijn C, Peeters K, Sciot R, Santens P, De Pooter T, Mattheijssens M, Van den Broeck M, Cuijt I, Vennekens K, De Deyn PP, Kumar-Singh S, Van Broeckhoven C.
|
| Nature 442(7105):920-4. Epub 2006 Jul 16. 2006
|
| 22 | FTDU17,GRN
|
| Progranulin mutations in ubiquitin-positive frontotemporal dementia linked to chromosome 17q21.
|
| Cruts M, Kumar-Singh S, Van Broeckhoven C.
|
| Curr Alzheimer Res 3(5):485-91. Review. 2006
|
| 23 | GRN, FTDU17
|
| 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.
|
| Ann Neurol 60(3):314-22. 2006
|
| 24 | FTDU17, GRN
|
| Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.
|
| Gass J, Cannon A, Mackenzie IR, Boeve B, Baker M, Adamson J, Crook R, Melquist S, Kuntz K, Petersen R, Josephs K, Pickering-Brown SM, Graff-Radford N, Uitti R, Dickson D, Wszolek Z, Gonzalez J, Beach TG, Bigio E, Johnson N, Weintraub S, Mesulam M, White CL 3rd, Woodruff B, Caselli R, Hsiung GY, Feldman H, Knopman D, Hutton M, Rademakers R.
|
| Hum Mol Genet 15(20):2988-3001. Epub 2006 Sep 1. 2006
|
| 25 | DEL17Q21,FTDP17,FTDU17,GRN,MAPT
|
| Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region.
|
| Cruts M, Rademakers R, Gijselinck I, van der Zee J, Dermaut B, de Pooter T, de Rijk P, Del-Favero J, van Broeckhoven C.
|
| Hum Mol Genet 14(13):1753-62. Epub 2005 May 11. 2005
|
| 26 | FTDU17
|
| Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22.
|
| Rosso SM, Kamphorst W, de Graaf B, Willemsen R, Ravid R, Niermeijer MF, Spillantini MG, Heutink P, van Swieten JC.
|
| Brain 124(Pt 10):1948-57. 2001
|
| 27 | FTDU17
|
| Familial frontotemporal dementia with ubiquitin-positive, tau-negative inclusions.
|
| Kertesz A, Kawarai T, Rogaeva E, St George-Hyslop P, Poorkaj P, Bird TD, Munoz DG.
|
| Neurology 54(4):818-27. 2000
|