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Results: 1 to 20 of 242

Similar articles for PubMed (Select 15004326)

2.

Chinese Presenilin-1 V97L mutation enhanced Abeta42 levels in SH-SY5Y neuroblastoma cells.

Fang B, Jia L, Jia J.

Neurosci Lett. 2006 Oct 2;406(1-2):33-7. Epub 2006 Aug 17.

PMID:
16916581
3.

The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathology.

Lemere CA, Lopera F, Kosik KS, Lendon CL, Ossa J, Saido TC, Yamaguchi H, Ruiz A, Martinez A, Madrigal L, Hincapie L, Arango JC, Anthony DC, Koo EH, Goate AM, Selkoe DJ, Arango JC.

Nat Med. 1996 Oct;2(10):1146-50.

PMID:
8837617
4.

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
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.

A novel Polish presenilin-1 mutation (P117L) is associated with familial Alzheimer's disease and leads to death as early as the age of 28 years.

Wisniewski T, Dowjat WK, Buxbaum JD, Khorkova O, Efthimiopoulos S, Kulczycki J, Lojkowska W, Wegiel J, Wisniewski HM, Frangione B.

Neuroreport. 1998 Jan 26;9(2):217-21.

PMID:
9507958
7.

The impact of different presenilin 1 andpresenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: evidence for other phenotype-modifying factors.

Gómez-Isla T, Growdon WB, McNamara MJ, Nochlin D, Bird TD, Arango JC, Lopera F, Kosik KS, Lantos PL, Cairns NJ, Hyman BT.

Brain. 1999 Sep;122 ( Pt 9):1709-19.

8.

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
10.

Novel presenilin-1 mutation with widespread cortical amyloid deposition but limited cerebral amyloid angiopathy.

Yasuda M, Maeda S, Kawamata T, Tamaoka A, Yamamoto Y, Kuroda S, Maeda K, Tanaka C.

J Neurol Neurosurg Psychiatry. 2000 Feb;68(2):220-3.

11.

The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients.

Ikeda M, Sharma V, Sumi SM, Rogaeva EA, Poorkaj P, Sherrington R, Nee L, Tsuda T, Oda N, Watanabe M, Aoki M, Shoji M, Abe K, Itoyama Y, Hirai S, Schellenberg GD, Bird TD, St George-Hyslop PH.

Ann Neurol. 1996 Dec;40(6):912-7.

PMID:
9007097
12.

A pathogenic presenilin-1 deletion causes abberrant Abeta 42 production in the absence of congophilic amyloid plaques.

Steiner H, Revesz T, Neumann M, Romig H, Grim MG, Pesold B, Kretzschmar HA, Hardy J, Holton JL, Baumeister R, Houlden H, Haass C.

J Biol Chem. 2001 Mar 9;276(10):7233-9. Epub 2000 Nov 17.

13.

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
14.

Alzheimer's disease presenilin-1 exon 9 deletion and L250S mutations sensitize SH-SY5Y neuroblastoma cells to hyperosmotic stress-induced apoptosis.

Tanii H, Ankarcrona M, Flood F, Nilsberth C, Mehta ND, Perez-Tur J, Winblad B, Benedikz E, Cowburn RF.

Neuroscience. 2000;95(2):593-601.

PMID:
10658639
15.

Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous Southern African family with early-onset Alzheimer's disease.

Heckmann JM, Low WC, de Villiers C, Rutherfoord S, Vorster A, Rao H, Morris CM, Ramesar RS, Kalaria RN.

Brain. 2004 Jan;127(Pt 1):133-42. Epub 2003 Oct 21.

16.

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
17.

Familial Alzheimer's disease-linked presenilin 1 variants elevate Abeta1-42/1-40 ratio in vitro and in vivo.

Borchelt DR, Thinakaran G, Eckman CB, Lee MK, Davenport F, Ratovitsky T, Prada CM, Kim G, Seekins S, Yager D, Slunt HH, Wang R, Seeger M, Levey AI, Gandy SE, Copeland NG, Jenkins NA, Price DL, Younkin SG, Sisodia SS.

Neuron. 1996 Nov;17(5):1005-13.

18.

Inhibition of neurite outgrowth by familial Alzheimer's disease-linked presenilin-1 mutations.

Dowjat WK, Wisniewski T, Efthimiopoulos S, Wisniewski HM.

Neurosci Lett. 1999 May 28;267(2):141-4.

PMID:
10400232
19.

Evidence that Abeta42 plasma levels in presenilin-1 mutation carriers do not allow for prediction of their clinical phenotype.

De Jonghe C, Cras P, Vanderstichele H, Cruts M, Vanderhoeven I, Smouts I, Vanmechelen E, Martin JJ, Hendriks L, Van Broeckhoven C.

Neurobiol Dis. 1999 Aug;6(4):280-7.

PMID:
10448055
20.

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
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