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Best matches for genetic pedigree AND mutation AND phenotype AND psen1 gene:

Genetics of dementia. Loy CT et al. Lancet. (2014)

Identification of PSEN1 mutations p.M233L and p.R352C in Han Chinese families with early-onset familial Alzheimer's disease. Jiang HY et al. Neurobiol Aging. (2015)

Different clinical phenotypes in siblings with a presenilin-1 P264L mutation. Ishizuka T et al. Dement Geriatr Cogn Disord. (2012)

Search results

Items: 1 to 20 of 46

1.

Novel Mutations in <i>PSENEN</i> Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease.

Zhou C, Wen GD, Soe LM, Xu HJ, Du J, Zhang JZ.

Chin Med J (Engl). 2016 Dec 5;129(23):2834-2839. doi: 10.4103/0366-6999.194648.

2.

Angela R.: a familial Alzheimer's disease case in the days of Auguste D.

Borrello L, Cupidi C, LaganĂ  V, Anfossi M, Conidi ME, Smirne N, Taverniti M, Guarasci R, Bruni AC.

J Neurol. 2016 Dec;263(12):2494-2498. Epub 2016 Oct 11.

PMID:
27730373
3.

Genomics of Alzheimer Disease: A Review.

Rosenberg RN, Lambracht-Washington D, Yu G, Xia W.

JAMA Neurol. 2016 Jul 1;73(7):867-74. doi: 10.1001/jamaneurol.2016.0301. Review.

PMID:
27135718
4.

Identification of the PS1 Thr147Ile Variant in a Family with Very Early Onset Dementia and Expressive Aphasia.

Denvir J, Neitch S, Fan J, Niles RM, Boskovic G, Schreurs BG, Primerano DA, Alkon DL.

J Alzheimers Dis. 2015;46(2):483-90. doi: 10.3233/JAD-150051.

5.

Identification of PSEN1 mutations p.M233L and p.R352C in Han Chinese families with early-onset familial Alzheimer's disease.

Jiang HY, Li GD, Dai SX, Bi R, Zhang DF, Li ZF, Xu XF, Zhou TC, Yu L, Yao YG.

Neurobiol Aging. 2015 Mar;36(3):1602.e3-6. doi: 10.1016/j.neurobiolaging.2014.11.009. Epub 2014 Dec 18.

PMID:
25595498
6.

Genetics of dementia.

Loy CT, Schofield PR, Turner AM, Kwok JB.

Lancet. 2014 Mar 1;383(9919):828-40. doi: 10.1016/S0140-6736(13)60630-3. Epub 2013 Aug 6. Review.

PMID:
23927914
7.

Different clinical phenotypes in siblings with a presenilin-1 P264L mutation.

Ishizuka T, Nakamura M, Ichiba M, Fujita S, Takeuchi K, Fujimoto T, Sano A.

Dement Geriatr Cogn Disord. 2012;33(2-3):132-40. doi: 10.1159/000338394. Epub 2012 May 8.

PMID:
22572737
8.

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
9.

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
10.

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
11.

Brain pathology in three subjects from the same pedigree with presenilin-1 (PSEN1) P264L mutation.

Martikainen P, Pikkarainen M, Pöntynen K, Hiltunen M, Lehtovirta M, Tuisku S, Soininen H, Alafuzoff I.

Neuropathol Appl Neurobiol. 2010 Feb;36(1):41-54. doi: 10.1111/j.1365-2990.2009.01046.x. Epub 2009 Oct 22.

PMID:
19849793
12.

Novel PSEN1 mutation in a Bulgarian patient with very early-onset Alzheimer's disease, spastic paraparesis, and extrapyramidal signs.

Dintchov Traykov L, Mehrabian S, Van den Broeck M, Radoslavova Raycheva M, Cruts M, Kirilova Jordanova A, Van Broeckhoven C.

Am J Alzheimers Dis Other Demen. 2009 Oct-Nov;24(5):404-7. doi: 10.1177/1533317509341464.

PMID:
19797784
13.

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
14.

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
15.

Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1.

Rudzinski LA, Fletcher RM, Dickson DW, Crook R, Hutton ML, Adamson J, Graff-Radford NR.

Alzheimer Dis Assoc Disord. 2008 Jul-Sep;22(3):299-307. doi: 10.1097/WAD.0b013e3181732399.

16.

Novel presenilin 1 variant (P117A) causing Alzheimer's disease in the fourth decade of life.

Kauwe JS, Wang J, Chakraverty S, Goate AM, Henao-Martinez AF.

Neurosci Lett. 2008 Jun 20;438(2):257-9. doi: 10.1016/j.neulet.2008.04.029. Epub 2008 Apr 15.

17.

Variable phenotype of Alzheimer's disease with spastic paraparesis.

Karlstrom H, Brooks WS, Kwok JB, Broe GA, Kril JJ, McCann H, Halliday GM, Schofield PR.

J Neurochem. 2008 Feb;104(3):573-83. Epub 2007 Nov 6. Review.

18.

No association of spastic paraparesis genes in PSEN1 Alzheimer's disease with spastic paraparesis.

Karlstrom H, Kwok JB, Gregory GC, Hallupp M, Brooks WS, Schofield PR.

Neuroreport. 2007 Aug 6;18(12):1267-9.

PMID:
17632280
19.

A novel presenilin 1 deletion (p.L166del) associated with early onset familial Alzheimer's disease.

Knight WD, Kennedy J, Mead S, Rossor MN, Beck J, Collinge J, Mummery C.

Eur J Neurol. 2007 Jul;14(7):829-31.

PMID:
17594345
20.

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.

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