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Items: 1 to 20 of 244

1.

From genotype to phenotype: a clinical pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation.

Nasreddine ZS, Loginov M, Clark LN, Lamarche J, Miller BL, Lamontagne A, Zhukareva V, Lee VM, Wilhelmsen KC, Geschwind DH.

Ann Neurol. 1999 Jun;45(6):704-15.

PMID:
10360762
2.

Tau pathology in a family with dementia and a P301L mutation in tau.

Mirra SS, Murrell JR, Gearing M, Spillantini MG, Goedert M, Crowther RA, Levey AI, Jones R, Green J, Shoffner JM, Wainer BH, Schmidt ML, Trojanowski JQ, Ghetti B.

J Neuropathol Exp Neurol. 1999 Apr;58(4):335-45.

PMID:
10218629
3.

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. 2000 Feb 22;54(4):818-27.

PMID:
10690970
4.

A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L)

Bird TD, Nochlin D, Poorkaj P, Cherrier M, Kaye J, Payami H, Peskind E, Lampe TH, Nemens E, Boyer PJ, Schellenberg GD.

Brain. 1999 Apr;122 ( Pt 4):741-56. Erratum in: Brain 1999 Jul;122(Pt 7):1398.

PMID:
10219785
5.

Phenotypic variation in hereditary frontotemporal dementia with tau mutations.

van Swieten JC, Stevens M, Rosso SM, Rizzu P, Joosse M, de Koning I, Kamphorst W, Ravid R, Spillantini MG, Niermeijer, Heutink P.

Ann Neurol. 1999 Oct;46(4):617-26.

PMID:
10514099
6.

Neuropathological features of frontotemporal dementia and parkinsonism linked to chromosome 17q21-22 (FTDP-17): Duke Family 1684.

Hulette CM, Pericak-Vance MA, Roses AD, Schmechel DE, Yamaoka LH, Gaskell PC, Welsh-Bohmer KA, Crowther RA, Spillantini MG.

J Neuropathol Exp Neurol. 1999 Aug;58(8):859-66.

PMID:
10446810
7.

Contrasting genotypes of the tau gene in two phenotypically distinct patients with P301L mutation of frontotemporal dementia and parkinsonism linked to chromosome 17.

Kobayashi T, Mori H, Okuma Y, Dickson DW, Cookson N, Tsuboi Y, Motoi Y, Tanaka R, Miyashita N, Anno M, Narabayashi H, Mizuno Y.

J Neurol. 2002 Jun;249(6):669-75.

PMID:
12111297
8.

Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.

Dumanchin C, Camuzat A, Campion D, Verpillat P, Hannequin D, Dubois B, Saugier-Veber P, Martin C, Penet C, Charbonnier F, Agid Y, Frebourg T, Brice A.

Hum Mol Genet. 1998 Oct;7(11):1825-9.

PMID:
9736786
9.

Frontotemporal dementia and Parkinsonism linked to chromosome 17: a new group of tauopathies.

Spillantini MG, Bird TD, Ghetti B.

Brain Pathol. 1998 Apr;8(2):387-402. Review.

PMID:
9546295
10.

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. 2001 Oct;124(Pt 10):1948-57.

PMID:
11571213
11.

Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation.

Lippa CF, Zhukareva V, Kawarai T, Uryu K, Shafiq M, Nee LE, Grafman J, Liang Y, St George-Hyslop PH, Trojanowski JQ, Lee VM.

Ann Neurol. 2000 Dec;48(6):850-8.

PMID:
11117541
12.

Tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17).

Spillantini MG, Van Swieten JC, Goedert M.

Neurogenetics. 2000 Mar;2(4):193-205. Review.

PMID:
10983715
13.

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.

Neurology. 2005 May 10;64(9):1578-85.

PMID:
15883319
14.

Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene.

Pickering-Brown SM, Richardson AM, Snowden JS, McDonagh AM, Burns A, Braude W, Baker M, Liu WK, Yen SH, Hardy J, Hutton M, Davies Y, Allsop D, Craufurd D, Neary D, Mann DM.

Brain. 2002 Apr;125(Pt 4):732-51.

PMID:
11912108
15.

[Clinical, genetic and pathological aspects of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)].

Tsuboi Y.

Rinsho Shinkeigaku. 2004 Nov;44(11):875-8. Review. Japanese.

PMID:
15651319
16.

Severity of gliosis in Pick's disease and frontotemporal lobar degeneration: tau-positive glia differentiate these disorders.

Schofield E, Kersaitis C, Shepherd CE, Kril JJ, Halliday GM.

Brain. 2003 Apr;126(Pt 4):827-40.

PMID:
12615642
17.

Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22.

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.

Ann Neurol. 1997 Nov;42(5):794-8.

PMID:
9392579
18.

Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R.

van Herpen E, Rosso SM, Serverijnen LA, Yoshida H, Breedveld G, van de Graaf R, Kamphorst W, Ravid R, Willemsen R, Dooijes D, Majoor-Krakauer D, Kros JM, Crowther RA, Goedert M, Heutink P, van Swieten JC.

Ann Neurol. 2003 Nov;54(5):573-81.

PMID:
14595646
19.
20.

Pick's complex and FTDP-17.

Kertesz A.

Mov Disord. 2003 Sep;18 Suppl 6:S57-62. Review.

PMID:
14502657

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