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Items: 1 to 20 of 130

1.

Screening for MAPT and PGRN mutations in Korean patients with PSP/CBS/FTD.

Kim HJ, Jeon BS, Yun JY, Seong MW, Park SS, Lee JY.

Parkinsonism Relat Disord. 2010 May;16(4):305-6. doi: 10.1016/j.parkreldis.2010.01.004. Epub 2010 Feb 19. No abstract available.

PMID:
20171924
2.

Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD, PSP, and CBS.

Ogaki K, Li Y, Takanashi M, Ishikawa K, Kobayashi T, Nonaka T, Hasegawa M, Kishi M, Yoshino H, Funayama M, Tsukamoto T, Shioya K, Yokochi M, Imai H, Sasaki R, Kokubo Y, Kuzuhara S, Motoi Y, Tomiyama H, Hattori N.

Parkinsonism Relat Disord. 2013 Jan;19(1):15-20. doi: 10.1016/j.parkreldis.2012.06.019. Epub 2012 Jul 18.

PMID:
22818528
3.

Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide.

Benussi L, Ghidoni R, Pegoiani E, Moretti DV, Zanetti O, Binetti G.

Neurobiol Dis. 2009 Mar;33(3):379-85. doi: 10.1016/j.nbd.2008.11.008. Epub 2008 Dec 6.

PMID:
19101631
4.

Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia.

Kim EJ, Kwon JC, Park KH, Park KW, Lee JH, Choi SH, Jeong JH, Kim BC, Yoon SJ, Yoon YC, Kim S, Park KC, Choi BO, Na DL, Ki CS, Kim SH.

Neurobiol Aging. 2014 May;35(5):1213.e13-7. doi: 10.1016/j.neurobiolaging.2013.11.033. Epub 2013 Dec 4.

PMID:
24387985
5.

Increase in the relative expression of tau with four microtubule binding repeat regions in frontotemporal lobar degeneration and progressive supranuclear palsy brains.

Ingelsson M, Ramasamy K, Russ C, Freeman SH, Orne J, Raju S, Matsui T, Growdon JH, Frosch MP, Ghetti B, Brown RH, Irizarry MC, Hyman BT.

Acta Neuropathol. 2007 Nov;114(5):471-9. Epub 2007 Aug 25.

PMID:
17721707
6.

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, Laquerrière A, De Pooter T, Camuzat A, Van den Broeck M, Dubois B, Sellal F, Lacomblez L, Vercelletto M, Thomas-Antérion 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. 2007 Sep;28(9):846-55.

PMID:
17436289
7.

Mutational analysis in early-onset familial dementia in the Japanese population. The role of PSEN1 and MAPT R406W mutations.

Ikeuchi T, Kaneko H, Miyashita A, Nozaki H, Kasuga K, Tsukie T, Tsuchiya M, Imamura T, Ishizu H, Aoki K, Ishikawa A, Onodera O, Kuwano R, Nishizawa M.

Dement Geriatr Cogn Disord. 2008;26(1):43-9. doi: 10.1159/000141483. Epub 2008 Jun 28.

PMID:
18587238
8.

Microtubule-associated protein tau genetic variations are uncommon cause of frontotemporal dementia in south India.

Aswathy PM, Jairani PS, Verghese J, Gopala S, Mathuranath PS.

Neurobiol Aging. 2014 Feb;35(2):443.e23-4. doi: 10.1016/j.neurobiolaging.2013.08.010. Epub 2013 Sep 13.

9.

Analyses MAPT, GRN, and C9orf72 mutations in Chinese patients with frontotemporal dementia.

Tang M, Gu X, Wei J, Jiao B, Zhou L, Zhou Y, Weng L, Yan X, Tang B, Xu J, Shen L.

Neurobiol Aging. 2016 Oct;46:235.e11-5. doi: 10.1016/j.neurobiolaging.2016.05.013. Epub 2016 May 20.

PMID:
27311648
10.

Chromosome 17 in FTLD: from MAPT tau to progranulin and back.

Alberici A, Cosseddu M, Padovani A, Borroni B.

Curr Alzheimer Res. 2011 May;8(3):229-36. Review.

PMID:
21222603
11.

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. 2006 Aug 24;442(7105):920-4. Epub 2006 Jul 16.

PMID:
16862115
12.

Progranulin mutations in ubiquitin-positive frontotemporal dementia linked to chromosome 17q21.

Cruts M, Kumar-Singh S, Van Broeckhoven C.

Curr Alzheimer Res. 2006 Dec;3(5):485-91. Review.

PMID:
17168647
13.

Parkinsonism and frontotemporal dementia: the clinical overlap.

Espay AJ, Litvan I.

J Mol Neurosci. 2011 Nov;45(3):343-9. doi: 10.1007/s12031-011-9632-1. Epub 2011 Sep 3.

14.

Survival in progressive supranuclear palsy and frontotemporal dementia.

Chiu WZ, Kaat LD, Seelaar H, Rosso SM, Boon AJ, Kamphorst W, van Swieten JC.

J Neurol Neurosurg Psychiatry. 2010 Apr;81(4):441-5. doi: 10.1136/jnnp.2009.195719.

PMID:
20360166
15.

Further extension of the H1 haplotype associated with progressive supranuclear palsy.

Pastor P, Ezquerra M, Tolosa E, Muñoz E, Martí MJ, Valldeoriola F, Molinuevo JL, Calopa M, Oliva R.

Mov Disord. 2002 May;17(3):550-6.

PMID:
12112206
16.

Genetic Features of MAPT, GRN, C9orf72 and CHCHD10 Gene Mutations in Chinese Patients with Frontotemporal Dementia.

Che XQ, Zhao QH, Huang Y, Li X, Ren RJ, Chen SD, Wang G, Guo QH.

Curr Alzheimer Res. 2017;14(10):1102-1108. doi: 10.2174/1567205014666170426105713.

PMID:
28462717
17.

Familial aggregation of parkinsonism in progressive supranuclear palsy.

Donker Kaat L, Boon AJ, Azmani A, Kamphorst W, Breteler MM, Anar B, Heutink P, van Swieten JC.

Neurology. 2009 Jul 14;73(2):98-105. doi: 10.1212/WNL.0b013e3181a92bcc. Epub 2009 May 20.

PMID:
19458322
18.

Intrafamilial clinical phenotypic heterogeneity with MAPT gene splice site IVS10+16C>T mutation.

Larner AJ.

J Neurol Sci. 2009 Dec 15;287(1-2):253-6. doi: 10.1016/j.jns.2009.08.063. Epub 2009 Sep 18.

PMID:
19766248
19.

Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America.

Gatto EM, Allegri RF, Da Prat G, Chrem Mendez P, Hanna DS, Dorschner MO, Surace EI, Zabetian CP, Mata IF.

Neurobiol Aging. 2017 May;53:195.e11-195.e17. doi: 10.1016/j.neurobiolaging.2017.02.002. Epub 2017 Feb 10.

20.

A new mutation of the tau gene, G303V, in early-onset familial progressive supranuclear palsy.

Ros R, Thobois S, Streichenberger N, Kopp N, Sánchez MP, Pérez M, Hoenicka J, Avila J, Honnorat J, de Yébenes JG.

Arch Neurol. 2005 Sep;62(9):1444-50.

PMID:
16157753

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