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Items: 1 to 20 of 123

1.

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
2.

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
3.

A novel mutation in the predicted TM2 domain of the presenilin 2 gene in a Spanish patient with late-onset Alzheimer's disease.

Lao JI, Beyer K, Fernández-Novoa L, Cacabelos R.

Neurogenetics. 1998 Aug;1(4):293-6.

PMID:
10732806
4.

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
5.

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
6.

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
7.

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
8.

A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease.

Raux G, Gantier R, Martin C, Pothin Y, Brice A, Frebourg T, Campion D.

Hum Mutat. 2000 Jul;16(1):95. No abstract available.

PMID:
10874324
9.

Identification of a novel mutation (Leu282Arg) of the human presenilin 1 gene in Alzheimer's disease.

Aldudo J, Bullido MJ, Arbizu T, Oliva R, Valdivieso F.

Neurosci Lett. 1998 Jan 16;240(3):174-6.

PMID:
9502232
10.

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
11.

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
12.

A novel pathogenic mutation (Leu262Phe) found in the presenilin 1 gene in early-onset Alzheimer's disease.

Forsell C, Froelich S, Axelman K, Vestling M, Cowburn RF, Lilius L, Johnston JA, Engvall B, Johansson K, Dahlkild A, Ingelson M, St George-Hyslop PH, Lannfelt L.

Neurosci Lett. 1997 Sep 26;234(1):3-6.

PMID:
9347932
13.

A new presenilin Alzheimer's disease case confirms the helical alignment of pathogenic mutations in transmembrane domain 5.

Coleman P, Kurlan R, Crook R, Werner J, Hardy J.

Neurosci Lett. 2004 Jul 8;364(3):139-40.

PMID:
15196662
14.

De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group.

Dumanchin C, Brice A, Campion D, Hannequin D, Martin C, Moreau V, Agid Y, Martinez M, Clerget-Darpoux F, Frebourg T.

J Med Genet. 1998 Aug;35(8):672-3.

16.

A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies.

Houlden H, Crook R, Dolan RJ, McLaughlin J, Revesz T, Hardy J.

Neurosci Lett. 2001 Nov 2;313(1-2):93-5.

PMID:
11684347
18.

A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease.

Ramirez-Dueñas MG, Rogaeva EA, Leal CA, Lin C, Ramirez-Casillas GA, Hernandez-Romo JA, St George-Hyslop PH, Cantu JM.

Ann Genet. 1998;41(3):149-53.

PMID:
9833068
19.

A novel mutation of presenilin 1 in familial Alzheimer's disease in Israel detected by denaturing gradient gel electrophoresis.

Reznik-Wolf H, Treves TA, Davidson M, Aharon-Peretz J, St George Hyslop PH, Chapman J, Korczyn AD, Goldman B, Friedman E.

Hum Genet. 1996 Dec;98(6):700-2.

PMID:
8931704
20.

Detection of the presenilin 1 gene mutation (M139T) in early-onset familial Alzheimer disease in Spain.

Queralt R, Ezquerra M, Castellví M, Lleó A, Blesa R, Oliva R.

Neurosci Lett. 2001 Feb 23;299(3):239-41.

PMID:
11165779

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