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Items: 1 to 20 of 190

1.

Clinical phenotype of G206D mutation in the presenilin 1 gene in pathologically confirmed familial Alzheimer's disease.

Wu YY, Cheng IH, Lee CC, Chiu MJ, Lee MJ, Chen TF, Hsu JL.

J Alzheimers Dis. 2011;25(1):145-50. doi: 10.3233/JAD-2011-102031.

PMID:
21335660
2.

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
3.

Presenilin 1 gene mutation (M139I) in a patient with an early-onset Alzheimer's disease: clinical characteristics and genetic identification.

Kim HJ, Kim HY, Ki CS, Kim SH.

Neurol Sci. 2010 Dec;31(6):781-3. doi: 10.1007/s10072-010-0233-5. Epub 2010 Mar 6.

PMID:
20213228
4.

A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease.

Antonell A, Balasa M, Oliva R, Lladó A, Bosch B, Fabregat N, Fortea J, Molinuevo JL, Sánchez-Valle R.

Neurosci Lett. 2011 May 27;496(1):40-2. doi: 10.1016/j.neulet.2011.03.084. Epub 2011 Apr 9.

PMID:
21501661
5.

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
6.

Clinical characterization of a presenilin 1 mutation (F177S) in a family with very early-onset Alzheimer's disease in the third decade of life.

Hausner L, Tschäpe JA, Schmitt HP, Hentschel F, Hartmann T, Frölich L.

Alzheimers Dement. 2014 Mar;10(2):e27-39. doi: 10.1016/j.jalz.2013.02.006. Epub 2013 Jul 11.

PMID:
23850332
7.

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
8.

Presenilin 1 mutation in an african american family presenting with atypical Alzheimer dementia.

Rippon GA, Crook R, Baker M, Halvorsen E, Chin S, Hutton M, Houlden H, Hardy J, Lynch T.

Arch Neurol. 2003 Jun;60(6):884-8.

PMID:
12810495
9.

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.

10.

A novel presenilin 1 mutation (Ser169del) in a Chinese family with early-onset Alzheimer's disease.

Guo J, Wei J, Liao S, Wang L, Jiang H, Tang B.

Neurosci Lett. 2010 Jan 1;468(1):34-7. doi: 10.1016/j.neulet.2009.10.055. Epub 2009 Oct 22.

PMID:
19853643
11.

A novel PSEN1 H163P mutation in a patient with early-onset Alzheimer's disease: clinical, neuroimaging, and neuropathological findings.

Kim J, Bagyinszky E, Chang YH, Choe G, Choi BO, An SS, Kim S.

Neurosci Lett. 2012 Nov 21;530(2):109-14. doi: 10.1016/j.neulet.2012.09.040. Epub 2012 Oct 6.

PMID:
23046926
12.

A novel missense mutation in the presenilin-1 gene in a familial Alzheimer's disease pedigree with abundant amyloid angiopathy.

Yasuda M, Maeda K, Ikejiri Y, Kawamata T, Kuroda S, Tanaka C.

Neurosci Lett. 1997 Aug 22;232(1):29-32.

PMID:
9292884
13.

Presenilin-1 mutation Alzheimer's disease: a genetic epilepsy syndrome?

Larner AJ.

Epilepsy Behav. 2011 May;21(1):20-2. doi: 10.1016/j.yebeh.2011.03.022. Epub 2011 Apr 17. Review.

PMID:
21501974
14.

Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the beta-amyloid precursor protein gene.

Karlinsky H, Vaula G, Haines JL, Ridgley J, Bergeron C, Mortilla M, Tupler RG, Percy ME, Robitaille Y, Noldy NE, et al.

Neurology. 1992 Aug;42(8):1445-53. Erratum in: Neurology 1992 Sep;42(9):1662.

PMID:
1520398
15.

Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2.

Jayadev S, Leverenz JB, Steinbart E, Stahl J, Klunk W, Yu CE, Bird TD.

Brain. 2010 Apr;133(Pt 4):1143-54. doi: 10.1093/brain/awq033.

16.

The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease.

Mattila KM, Forsell C, Pirttilä T, Rinne JO, Lehtimäki T, Röyttä M, Lilius L, Eerola A, St George-Hyslop PH, Frey H, Lannfelt L.

Ann Neurol. 1998 Dec;44(6):965-7.

PMID:
9851443
17.

Pathology of early-onset Alzheimer's disease cases bearing the Thr113-114ins presenilin-1 mutation.

Singleton AB, Hall R, Ballard CG, Perry RH, Xuereb JH, Rubinsztein DC, Tysoe C, Matthews P, Cordell B, Kumar-Singh S, De Jonghe C, Cruts M, van Broeckhoven C, Morris CM.

Brain. 2000 Dec;123 Pt 12:2467-74.

18.

Novel presenilin-1 Y159F sequence variant associated with early-onset Alzheimer's disease.

Kerchner GA, Holbrook K.

Neurosci Lett. 2012 Dec 7;531(2):142-4. doi: 10.1016/j.neulet.2012.10.037. Epub 2012 Nov 2.

PMID:
23123781
19.

[New mutation in the PSEN1 (E120G) gene associated with early onset Alzheimer's disease].

Lladó A, Sánchez-Valle R, Rey MJ, Mercadal P, Almenar C, López-Villegas D, Fortea J, Molinuevo JL.

Neurologia. 2010 Jan-Feb;25(1):13-6. Spanish.

20.

Interference with splicing of Presenilin transcripts has potent dominant negative effects on Presenilin activity.

Nornes S, Newman M, Verdile G, Wells S, Stoick-Cooper CL, Tucker B, Frederich-Sleptsova I, Martins R, Lardelli M.

Hum Mol Genet. 2008 Feb 1;17(3):402-12. Epub 2007 Nov 2.

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