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Items: 1 to 20 of 386

1.

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
2.

Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia.

Arango D, Cruts M, Torres O, Backhovens H, Serrano ML, Villareal E, Montañes P, Matallana D, Cano C, Van Broeckhoven C, Jacquier M.

Am J Med Genet. 2001 Oct 1;103(2):138-43.

PMID:
11568920
3.

Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.

Campion D, Dumanchin C, Hannequin D, Dubois B, Belliard S, Puel M, Thomas-Anterion C, Michon A, Martin C, Charbonnier F, Raux G, Camuzat A, Penet C, Mesnage V, Martinez M, Clerget-Darpoux F, Brice A, Frebourg T.

Am J Hum Genet. 1999 Sep;65(3):664-70.

4.

A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis.

Ataka S, Tomiyama T, Takuma H, Yamashita T, Shimada H, Tsutada T, Kawabata K, Mori H, Miki T.

Arch Neurol. 2004 Nov;61(11):1773-6.

PMID:
15534188
5.

Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland.

Zekanowski C, Styczyńska M, Pepłońska B, Gabryelewicz T, Religa D, Ilkowski J, Kijanowska-Haładyna B, Kotapka-Minc S, Mikkelsen S, Pfeffer A, Barczak A, Łuczywek E, Wasiak B, Chodakowska-Zebrowska M, Gustaw K, Łaczkowski J, Sobów T, Kuźnicki J, Barcikowska M.

Exp Neurol. 2003 Dec;184(2):991-6.

PMID:
14769392
6.

Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update.

Raux G, Guyant-Maréchal L, Martin C, Bou J, Penet C, Brice A, Hannequin D, Frebourg T, Campion D.

J Med Genet. 2005 Oct;42(10):793-5. Epub 2005 Jul 20.

7.

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
8.

A novel presenilin 1 mutation (Leu166Arg) associated with early-onset Alzheimer disease.

Ezquerra M, Carnero C, Blesa R, Oliva R.

Arch Neurol. 2000 Apr;57(4):485-8.

PMID:
10768621
9.

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
10.

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
11.

Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onset Alzheimer disease in Spain.

Lleó A, Blesa R, Queralt R, Ezquerra M, Molinuevo JL, Peña-Casanova J, Rojo A, Oliva R.

Arch Neurol. 2002 Nov;59(11):1759-63.

PMID:
12433263
12.

Familial Alzheimer's disease genes in Japanese.

Kamimura K, Tanahashi H, Yamanaka H, Takahashi K, Asada T, Tabira T.

J Neurol Sci. 1998 Sep 18;160(1):76-81.

PMID:
9804121
13.

A pedigree with a novel presenilin 1 mutation at a residue that is not conserved in presenilin 2.

Yasuda M, Maeda K, Hashimoto M, Yamashita H, Ikejiri Y, Bird TD, Tanaka C, Schellenberg GD.

Arch Neurol. 1999 Jan;56(1):65-9.

PMID:
9923762
14.

A presenilin 1 mutation (Arg278Ser) associated with early onset Alzheimer's disease and spastic paraparesis.

Raman A, Lin X, Suri M, Hewitt M, Constantinescu CS, Phillips MF.

J Neurol Sci. 2007 Sep 15;260(1-2):78-82. Epub 2007 May 15.

PMID:
17507029
15.

Novel mutations and repeated findings of mutations in familial Alzheimer disease.

Finckh U, Kuschel C, Anagnostouli M, Patsouris E, Pantes GV, Gatzonis S, Kapaki E, Davaki P, Lamszus K, Stavrou D, Gal A.

Neurogenetics. 2005 May;6(2):85-9. Epub 2005 Mar 18.

PMID:
15776278
16.

Molecular evidence of presenilin 1 mutation in familial early onset dementia.

Matsubara-Tsutsui M, Yasuda M, Yamagata H, Nomura T, Taguchi K, Kohara K, Miyoshi K, Miki T.

Am J Med Genet. 2002 Apr 8;114(3):292-8.

PMID:
11920851
17.

A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease.

Bertoli Avella AM, Marcheco Teruel B, Llibre Rodriguez JJ, Gomez Viera N, Borrajero Martinez I, Severijnen EA, Joosse M, van Duijn CM, Heredero Baute L, Heutink P.

Neurogenetics. 2002 Oct;4(2):97-104.

PMID:
12484344
18.

Genetics of early-onset Alzheimer dementia.

Rademakers R, Cruts M, Van Broeckhoven C.

ScientificWorldJournal. 2003 Jun 16;3:497-519. Review.

19.

Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene.

Smith MJ, Gardner RJ, Knight MA, Forrest SM, Beyreuther K, Storey E, McLean CA, Cotton RG, Cappal R, Masters CL.

Neuroreport. 1999 Feb 25;10(3):503-7.

PMID:
10208579
20.

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

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