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Results: 1 to 20 of 84

Related Citations for PubMed (Select 14681895)

1.

Atypical dementia associated with a novel presenilin-2 mutation.

Binetti G, Signorini S, Squitti R, Alberici A, Benussi L, Cassetta E, Frisoni GB, Barbiero L, Feudatari E, Nicosia F, Testa C, Zanetti O, Gennarelli M, Perani D, Anchisi D, Ghidoni R, Rossini PM.

Ann Neurol. 2003 Dec;54(6):832-6.

PMID:
14681895
2.

A novel PSEN2 mutation associated with a peculiar phenotype.

Piscopo P, Marcon G, Piras MR, Crestini A, Campeggi LM, Deiana E, Cherchi R, Tanda F, Deplano A, Vanacore N, Tagliavini F, Pocchiari M, Giaccone G, Confaloni A.

Neurology. 2008 Apr 22;70(17):1549-54. doi: 10.1212/01.wnl.0000310643.53587.87.

PMID:
18427071
3.

A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease.

Ezquerra M, Lleó A, Castellví M, Queralt R, Santacruz P, Pastor P, Molinuevo JL, Blesa R, Oliva R.

Arch Neurol. 2003 Aug;60(8):1149-51.

PMID:
12925374
4.

Prevalence of pathogenic mutations in an Italian clinical series of patients with familial dementia.

Signorini S, Ghidoni R, Barbiero L, Benussi L, Binetti G.

Curr Alzheimer Res. 2004 Aug;1(3):215-8.

PMID:
15975068
5.

Dementia, pyramidal system involvement, and leukoencephalopathy with a presenilin 1 mutation.

Marrosu MG, Floris G, Costa G, Schirru L, Spinicci G, Cherchi MV, Mura M, Mascia MG, Cocco E.

Neurology. 2006 Jan 10;66(1):108-11.

PMID:
16401857
6.

Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation.

Raux G, Gantier R, Thomas-Anterion C, Boulliat J, Verpillat P, Hannequin D, Brice A, Frebourg T, Campion D.

Neurology. 2000 Nov 28;55(10):1577-8.

PMID:
11094121
7.

Three-year follow-up of a patient with early-onset Alzheimer's disease with presenilin-2 N141I mutation - case report and review of the literature.

Nikisch G, Hertel A, Kiessling B, Wagner T, Krasz D, Hofmann E, Wiedemann G.

Eur J Med Res. 2008 Dec 3;13(12):579-84. Review.

PMID:
19073399
8.

Familial frontotemporal dementia associated with a novel presenilin-1 mutation.

Tang-Wai D, Lewis P, Boeve B, Hutton M, Golde T, Baker M, Hardy J, Michels V, Ivnik R, Jack C, Petersen R.

Dement Geriatr Cogn Disord. 2002;14(1):13-21.

PMID:
12053127
9.

A novel presenilin 2 gene mutation (D439A) in a patient with early-onset Alzheimer's disease.

Lleó A, Blesa R, Gendre J, Castellví M, Pastor P, Queralt R, Oliva R.

Neurology. 2001 Nov 27;57(10):1926-8.

PMID:
11723295
10.

Absence of pathogenic mutations in presenilin homologue 2 in a conclusively 17-linked tau-negative dementia family.

Rademakers R, Van den Broeck M, Sleegers K, van Duijn C, Van Broeckhoven C, Cruts M.

Neurogenetics. 2004 Feb;5(1):79-80. Epub 2003 Oct 8. No abstract available.

PMID:
14534840
11.

Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: genetic and bioinformatic assessment.

Zekanowski C, Golan MP, Krzyśko KA, Lipczyńska-Łojkowska W, Filipek S, Kowalska A, Rossa G, Pepłońska B, Styczyńska M, Maruszak A, Religa D, Wender M, Kulczycki J, Barcikowska M, Kuźnicki J.

Exp Neurol. 2006 Jul;200(1):82-8. Epub 2006 Mar 20.

PMID:
16546171
12.

A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis.

Hattori S, Sakuma K, Wakutani Y, Wada K, Shimoda M, Urakami K, Kowa H, Nakashima K.

Neurosci Lett. 2004 Sep 30;368(3):319-22.

PMID:
15364419
13.

Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I.

Finckh U, Alberici A, Antoniazzi M, Benussi L, Fedi V, Giannini C, Gal A, Nitsch RM, Binetti G.

Neurology. 2000 May 23;54(10):2006-8.

PMID:
10822446
14.

A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques.

Dermaut B, Kumar-Singh S, Engelborghs S, Theuns J, Rademakers R, Saerens J, Pickut BA, Peeters K, van den Broeck M, Vennekens K, Claes S, Cruts M, Cras P, Martin JJ, Van Broeckhoven C, De Deyn PP.

Ann Neurol. 2004 May;55(5):617-26.

PMID:
15122701
15.

Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life.

Snider BJ, Norton J, Coats MA, Chakraverty S, Hou CE, Jervis R, Lendon CL, Goate AM, McKeel DW Jr, Morris JC.

Arch Neurol. 2005 Dec;62(12):1821-30.

PMID:
16344340
16.

New V272A presenilin 1 mutation with very early onset subcortical dementia and parkinsonism.

Jimenez-Escrig A, Rabano A, Guerrero C, Simon J, Barquero MS, Güell I, Ginestal RC, Montero T, Orensanz L.

Eur J Neurol. 2004 Oct;11(10):663-9.

PMID:
15469450
17.

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
18.

Mutations of presenilin genes in dilated cardiomyopathy and heart failure.

Li D, Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Partain J, Nixon RR, Allen CN, Irwin RP, Jakobs PM, Litt M, Hershberger RE.

Am J Hum Genet. 2006 Dec;79(6):1030-9. Epub 2006 Oct 24.

19.

17q-linked frontotemporal dementia-amyotrophic lateral sclerosis without tau mutations with tau and alpha-synuclein inclusions.

Wilhelmsen KC, Forman MS, Rosen HJ, Alving LI, Goldman J, Feiger J, Lee JV, Segall SK, Kramer JH, Lomen-Hoerth C, Rankin KP, Johnson J, Feiler HS, Weiner MW, Lee VM, Trojanowski JQ, Miller BL.

Arch Neurol. 2004 Mar;61(3):398-406.

PMID:
15023818
20.

Neuropathological and clinical phenotype of an Italian Alzheimer family with M239V mutation of presenilin 2 gene.

Marcon G, Giaccone G, Cupidi C, Balestrieri M, Beltrami CA, Finato N, Bergonzi P, Sorbi S, Bugiani O, Tagliavini F.

J Neuropathol Exp Neurol. 2004 Mar;63(3):199-209.

PMID:
15055444
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