| 1 | C9orf72, FTDP17, FTDU17, GRN, MAPT
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| Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics.
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| 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.
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| Brain 135(Pt 3):794-806. doi: 10.1093/brain/aws001. 2012
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| 2 | FTD3, FTDP17, FTDU17, FTLD
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| Suberoylanilide hydroxamic acid (vorinostat) up-regulates progranulin transcription: rational therapeutic approach to frontotemporal dementia.
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| 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.
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| J Biol Chem 286(18):16101-8. Epub 2011 Mar 23.
2011
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| 3 | FTDP17, MAPT
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| Familial FTDP-17 missense mutations inhibit microtubule assembly-promoting activity of tau by increasing phosphorylation at Ser202 in vitro.
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| Han D, Qureshi HY, Lu Y, Paudel HK.
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| J Biol Chem 284(20):13422-33. Epub 2009 Mar 19.
2009
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| 4 | FTDP17, MAPT
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| FTDP-17 mutations in Tau alter the regulation of microtubule dynamics: an "alternative core" model for normal and pathological Tau action.
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| LeBoeuf AC, Levy SF, Gaylord M, Bhattacharya A, Singh AK, Jordan MA, Wilson L, Feinstein SC.
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| J Biol Chem 283(52):36406-15. Epub 2008 Oct 21.
2008
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| 5 | FTDP17, MAPT
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| The tauopathy associated with mutation +3 in intron 10 of Tau: characterization of the MSTD family.
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| Spina S, Farlow MR, Unverzagt FW, Kareken DA, Murrell JR, Fraser G, Epperson F, Crowther RA, Spillantini MG, Goedert M, Ghetti B.
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| Brain 131(Pt 1):72-89. Epub 2007 Dec 7.PMID: 18065436 2008
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| 6 | FTDP17, MAPT
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| TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.
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| Arai T, Hasegawa M, Akiyama H, Ikeda K, Nonaka T, Mori H, Mann D, Tsuchiya K, Yoshida M, Hashizume Y, Oda T.
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| Biochem Biophys Res Commun 351(3):602-11. Epub 2006 Oct 30.
2006
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| 7 | DYT3, FTDP17, FTDU17, FXTAS, LRRK2, MAPT, PARK1, PARK4, PARK5, PARK6, PARK7, PARK8, PINK1, PRKN, PSRP, SNCA, UCHL1
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| Genetics of Parkinson disease: paradigm shifts and future prospects.
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| Farrer MJ.
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| Nat Rev Genet 7(4):306-18. 2006
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| 8 | FTDP17, MAPT
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| Comparison of extent of tau pathology in patients with frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17), frontotemporal lobar degeneration with Pick bodies and early onset Alzheimer's disease.
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| Shiarli AM, Jennings R, Shi J, Bailey K, Davidson Y, Tian J, Bigio EH, Ghetti B, Murrell JR, Delisle MB, Mirra S, Crain B, Zolo P, Arima K, Iseki E, Murayama S, Kretzschmar H, Neumann M, Lippa C, Halliday G, Mackenzie J, Khan N, Ravid R, Dickson D, Wszolek Z, Iwatsubo T, Pickering-Brown SM, Mann DM.
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| Neuropathol Appl Neurobiol 32(4):374-87. 2006
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| 9 | DEL17Q21,FTDP17,FTDU17,GRN,MAPT
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| Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region.
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| Cruts M, Rademakers R, Gijselinck I, van der Zee J, Dermaut B, de Pooter T, de Rijk P, Del-Favero J, van Broeckhoven C.
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| Hum Mol Genet 14(13):1753-62. Epub 2005 May 11. 2005
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| 10 | MAPT, FTDP17
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| Familial autosomal dominant cortico-basal degeneration with the P301S mutation in the tau gene: an example of phenotype variability.
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| Casseron W, Azulay JP, Guedj E, Gastaut JL, Pouget J.
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| J Neurol 252(12):1546-8. No abstract available. 2005
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| 11 | C1QL1, CRHR1, FTDP17, MAPT, PSRP, SPPL2C
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| The structure of the tau haplotype in controls and in progressive supranuclear palsy.
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| Pittman AM, Myers AJ, Duckworth J, Bryden L, Hanson M, Abou-Sleiman P, Wood NW, Hardy J, Lees A, De Silva R.
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| Hum Mol Genet 13(12):1267-74. Epub 2004 Apr 28. 2004
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| 12 | FTDP17, MAPT, TRA2B
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| Mutations in tau gene exon 10 associated with FTDP-17 alter the activity of an exonic splicing enhancer to interact with Tra2 beta.
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| Jiang Z, Tang H, Havlioglu N, Zhang X, Stamm S, Yan R, Wu JY.
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| J Biol Chem 278(21):18997-9007. Epub 2003 Mar 20. 2003
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| 13 | FTDP17,MAPT
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| A case of dementia parkinsonism resembling progressive supranuclear palsy due to mutation in the tau protein gene.
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| Soliveri P, Rossi G, Monza D, Tagliavini F, Piacentini S, Albanese A, Bugiani O, Girotti F.
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| Arch Neurol 60(10):1454-6. 2003
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| 14 | APOE,FTDP17
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| Apolipoprotein E gene in frontotemporal dementia: an association study and meta-analysis.
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| Verpillat P, Camuzat A, Hannequin D, Thomas-Anterion C, Puel M, Belliard S, Dubois B, Didic M, Lacomblez L, Moreaud O, Golfier V, Campion D, Brice A, Clerget-Darpoux F.
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| Eur J Hum Genet 10(7):399-405. 2002
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| 15 | FTDP17
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| Missense tau mutations identified in FTDP-17 have a small effect on tau-microtubule interactions.
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| DeTure M, Ko LW, Yen S, Nacharaju P, Easson C, Lewis J, van Slegtenhorst M, Hutton M, Yen SH.
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| Brain Res 853(1):5-14. 2000
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| 16 | FTDP17,MAPT
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| Tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17).
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| Spillantini MG, Van Swieten JC, Goedert M.
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| Neurogenetics 2(4):193-205. 2000
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| 17 | FTDP17,MAPT
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| A novel mutation at position +12 in the intron following exon 10 of the tau gene in familial frontotemporal dementia (FTD-Kumamoto).
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| Yasuda M, Takamatsu J, D'Souza I, Crowther RA, Kawamata T, Hasegawa M, Hasegawa H, Spillantini MG, Tanimukai S, Poorkaj P, Varani L, Varani G, Iwatsubo T, Goedert M, Schellenberg DG, Tanaka C.
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| Ann Neurol 47(4):422-9. 2000
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| 18 | FTDP17
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| Aberrant splicing of tau pre-mRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with parkinsonism linked to chromosome 17.
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| Jiang Z, Cote J, Kwon JM, Goate AM, Wu JY.
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| Mol Cell Biol 20(11):4036-48. 2000
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| 19 | FTDP17,MAPT
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| Mutation-dependent aggregation of tau protein and its selective depletion from the soluble fraction in brain of P301L FTDP-17 patients.
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| Rizzu P, Joosse M, Ravid R, Hoogeveen A, Kamphorst W, van Swieten JC, Willemsen R, Heutink P.
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| Hum Mol Genet 9(20):3075-82. 2000
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| 20 | FTDP17
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| A novel tau mutation (N296N) in familial dementia with swollen achromatic neurons and corticobasal inclusion bodies.
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| Spillantini MG, Yoshida H, Rizzini C, Lantos PL, Khan N, Rossor MN, Goedert M, Brown J.
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| Ann Neurol 48(6):939-43. 2000
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| 21 | FTDP17
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| Pick's disease is associated with mutations in the tau gene.
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| Pickering-Brown S, Baker M, Yen SH, Liu WK, Hasegawa M, Cairns N, Lantos PL, Rossor M, Iwatsubo T, Davies Y, Allsop D, Furlong R, Owen F, Hardy J, Mann D, Hutton M.
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| Ann Neurol 48(6):859-67. 2000
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| 22 | FTDP17,MAPT
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| High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the netherlands.
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| Rizzu P, et al.
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| Am J Hum Genet 64(2):414-21. 1999
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| 23 | FTDP17,MAPT
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| Tau gene mutation in familial progressive subcortical gliosis.
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| Goedert M, et al.
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| Nat Med 5(4):454-7. 1999
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| 24 | FTDP17,MAPT
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| A distinct familial presenile dementia with a novel missense mutation in the tau gene.
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| Iijima M, et al.
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| Neuroreport 10(3):497-501. 1999
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| 25 | FTDP17,MAPT
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| Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements.
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| D'Souza I, et al.
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| Proc Natl Acad Sci U S A 96(10):5598-603. 1999
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| 26 | FTDP17,MAPT,PSRP
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| The tangled biology of tau.
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| Wilhelmsen KC.
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| Proc Natl Acad Sci U S A 96(13):7120-1. No abstract available 1999
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| 27 | FTDP17
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| From genotype to phenotype: a clinical pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation.
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| Nasreddine ZS, et al.
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| Ann Neurol 45(6):704-15. 1999
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| 28 | FTDP17,MAPT
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| Construction of a detailed physical and transcript map of the FTDP-17 candidate region on chromosome 17q21.
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| Froelich S, et al.
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| Genomics 60(2):129-36 1999
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| 29 | FTDP17,MAPT
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| A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration.
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| Yasuda M, Kawamata T, Komure O, Kuno S, D'Souza I, Poorkaj P, Kawai J, Tanimukai S, Yamamoto Y, Hasegawa H, Sasahara M, Hazama F, Schellenberg GD, Tanaka C.
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| Neurology 53(4):864-8 1999
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| 30 | FTDP17
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| Phenotypic variation in hereditary frontotemporal dementia with tau mutations.
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| van Swieten JC, Stevens M, Rosso SM, Rizzu P, Joosse M, de Koning I, Kamphorst W, Ravid R, Spillantini MG, Niermeijer, Heutink P.
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| Ann Neurol 46(4):617-26 1999
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| 31 | FTDP17
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| FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation.
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| Sperfeld AD, Collatz MB, Baier H, Palmbach M, Storch A, Schwarz J, Tatsch K, Reske S, Joosse M, Heutink P, Ludolph AC.
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| Ann Neurol 46(5):708-15 1999
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| 32 | FTDP17,MAPT
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| FTDP-17 tau mutations decrease the susceptibility of tau to calpain I digestion.
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| Yen S, Easson C, Nacharaju P, Hutton M, Yen SH.
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| FEBS Lett 461(1-2):91-5 1999
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| 33 | FTDP17
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| Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits.
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| Murrell JR, Spillantini MG, Zolo P, Guazzelli M, Smith MJ, Hasegawa M, Redi F, Crowther RA, Pietrini P, Ghetti B, Goedert M.
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| J Neuropathol Exp Neurol 58(12):1207-26. 1999
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| 34 | FTDP17
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| Frontotemporal dementia and Parkinsonism linked to chromosome 17 : a new group of tauopathies.
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| Spillantini MG, et al.
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| Brain Pathol 8 : 387-402. 1998
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| 35 | FTDP17
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| Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.
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| Hutton M, et al.
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| Nature 393 : 702-705. 1998
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| 36 | FTDP17
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| Hereditary dysphasic disinhibition dementia : a frontotemporal dementia linked to 17q21-22.
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| Lendon CL, et al.
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| Neurology 50 : 1546-1555. 1998
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| 37 | FTDP17,MAPT
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| Tau is a candidate gene for chromosome 17 frontotemporal dementia.
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| Poorkaj P, et al.
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| Ann Neurol 43 : 815-825. 1998
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| 38 | FTDP17,MAPT
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| Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.
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| Dumanchin C, et al.
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| Hum Mol Genet 7 : 1825-1829. 1998
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| 39 | FMNL1,FTDP17,MAP3K14
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| The NIK protein kinase and C17orf1 genes : chromosomal mapping, gene structures and mutational screening in frontotemporal dementia and parkinsonism linked to chromosome 17.
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| Aronsson FC, et al.
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| Hum Genet 103 : 340-345. 1998
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| 40 | FTDP17
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| Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17.
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| Clark LN, et al.
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| Proc Natl Acad Sci U S A 95 : 13103-13107. 1998
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| 41 | FTDP17,MAPT
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| Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17.
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| Hong M, et al.
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| Science 282 : 1914-1917. 1998
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| 42 | FTDP17
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| -linked autosomal dominant parkinsonism and dementia (pallido-ponto-nigral degeneration).
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| Reed LA, et al.
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| J Neuropathol Exp Neurol 57 : 588-601. 1998
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| 43 | FTDP17
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| Hereditary frontotemporal dementia is linked to chromosome 17q21-q22 : a genetic and clinicopathological study of three Dutch families.
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| Heutink P, et al.
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| Ann Neurol 41 : 150-159. 1997
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| 44 | FTDP17
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| Chromosome 17 and hereditary dementia : linkage studies in three non-Alzheimer families and kindreds with late-onset FAD.
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| Bird TD, et al.
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| Neurology 48 : 949-954. 1997
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| 45 | FTDP17
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| Clinical characteristics of a chromosome 17-linked rapidly progressive familial frontotemporal dementia.
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| Basun H, Almkvist O, Axelman K, Brun A, Campbell TA, Collinge J, Forsell C, Froelich S, Wahlund LO, Wetterberg L, Lannfelt L.
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| Arch Neurol 54(5):539-44. 1997
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| 46 | FTDP17
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| Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Conference Participants.
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| Foster NL, Wilhelmsen K, Sima AA, Jones MZ, D'Amato CJ, Gilman S.
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| Ann Neurol 41(6):706-15. Review. 1997
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| 47 | AD1,AD2,AD3,AD4,FTDP17,PSRP
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| Neurodegenerative diseases with cytoskeletal pathology: a biochemical classification.
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| Dickson DW.
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| Ann Neurol 42(4):541-4. 1997
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| 48 | FTDP17
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| Mapping of a disease locus for familial rapidly progressive frontotemporal dementia to chromosome 17q12-21.
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| Froelich S, Basun H, Forsell C, Lilius L, Axelman K, Andreadis A, Lannfelt L.
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| Am J Med Genet 74(4):380-5. 1997
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| 49 | FTDP17
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| Familial multiple-system tauopathy with presenile dementia is localized to chromosome 17.
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| Murrell JR, Koller D, Foroud T, Goedert M, Spillantini MG, Edenberg HJ, Farlow MR, Ghetti B.
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| Am J Hum Genet 61(5):1131-8. 1997
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| 50 | FTDP17
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| Localization of frontotemporal dementia with Parkinsonism in an Australian kindred to chromosome 17q21-22.
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| Baker M, Kwok JB, Kucera S, Crook R, Farrer M, Houlden H, Isaacs A, Lincoln S, Onstead L, Hardy J, Wittenberg L, Dodd P, Webb S, Hayward N, Tannenberg T, Andreadis A, Hallupp M, Schofield P, Dark F, Hutton M.
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| Ann Neurol 42(5):794-8. 1997
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| 51 | FTDP17
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| Linkage of frontotemporal dementia to chromosome 17 : clinical and neuropathological characterization of phenotype.
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| Yamaoka LH, et al.
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| Am J Hum Genet 59 : 1306-1312. 1996
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| 52 | FTDP17,PARK1
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| Mapping of a gene for Parkinson's disease to chromosome 4q21-q23.
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| Polymeropoulos MH, et al.
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| Science 274 : 1197-1199. 1996
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| 53 | FTDP17
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| Familial progressive subcortical gliosis : presence of prions and linkage to chromosome 17.
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| Petersen RB, et al.
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| Neurology 45 : 1062-1067. 1995
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| 54 | FTDP17
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| Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22.
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| Wilhelmsen KC, et al.
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| Am J Hum Genet 55 : 1159-1165. 1994
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| 55 | FTDP17
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| Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex.
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| Lynch T, et al.
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| Neurology 44 : 1878-1884. 1994
|