Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 76

1.

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
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.

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
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 novel Italian presenilin 2 gene mutation with prevalent behavioral phenotype.

Marcon G, Di Fede G, Giaccone G, Rossi G, Giovagnoli AR, Maccagnano E, Tagliavini F.

J Alzheimers Dis. 2009;16(3):509-11. doi: 10.3233/JAD-2009-0986.

PMID:
19276543
6.

A novel mutation in the predicted TMIII domain of the PSEN2 gene in an Italian pedigree with atypical Alzheimer's disease.

Piscopo P, Talarico G, Crestini A, Gasparini M, Malvezzi-Campeggi L, Piacentini E, Lenzi GL, Bruno G, Confaloni A.

J Alzheimers Dis. 2010;20(1):43-7. doi: 10.3233/JAD-2010-1369.

PMID:
20164579
7.

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
8.

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.

9.

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
10.

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
11.

Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy.

Filla A, De Michele G, Cocozza S, Patrignani A, Volpe G, Castaldo I, Ruggiero G, Bonavita V, Masters C, Casari G, Bruni A.

Neurology. 2002 Mar 26;58(6):922-8.

PMID:
11914409
12.

Progranulin mutation causes frontotemporal dementia in the Swedish Karolinska family.

Chiang HH, Rosvall L, Brohede J, Axelman K, Björk BF, Nennesmo I, Robins T, Graff C.

Alzheimers Dement. 2008 Nov;4(6):414-20. doi: 10.1016/j.jalz.2008.09.001.

PMID:
19012866
13.

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
14.

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
15.

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
16.

Genetic testing in familial AD and FTD: mutation and phenotype spectrum in a Danish cohort.

Lindquist SG, Schwartz M, Batbayli M, Waldemar G, Nielsen JE.

Clin Genet. 2009 Aug;76(2):205-9. doi: 10.1111/j.1399-0004.2009.01191.x. Epub 2009 Jul 29.

PMID:
19659892
17.

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
18.

The genetics of very early onset Alzheimer disease.

Filley CM, Rollins YD, Anderson CA, Arciniegas DB, Howard KL, Murrell JR, Boyer PJ, Kleinschmidt-DeMasters BK, Ghetti B.

Cogn Behav Neurol. 2007 Sep;20(3):149-56.

PMID:
17846513
19.

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.

20.

Novel mutation in the PSEN2 gene (N141Y) associated with early-onset autosomal dominant Alzheimer's disease in a Chinese Han family.

Niu F, Yu S, Zhang Z, Yi X, Ye L, Tang W, Qiu C, Wen H, Sun Y, Gao J, Guo Y.

Neurobiol Aging. 2014 Oct;35(10):2420.e1-5. doi: 10.1016/j.neurobiolaging.2014.04.011. Epub 2014 Apr 18. Erratum in: Neurobiol Aging. 2014 Dec;35(12):2885.

PMID:
24838186

Supplemental Content

Support Center