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Items: 1 to 20 of 420

1.

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.

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.

Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion.

De Jonghe C, Cruts M, Rogaeva EA, Tysoe C, Singleton A, Vanderstichele H, Meschino W, Dermaut B, Vanderhoeven I, Backhovens H, Vanmechelen E, Morris CM, Hardy J, Rubinsztein DC, St George-Hyslop PH, Van Broeckhoven C.

Hum Mol Genet. 1999 Aug;8(8):1529-40.

PMID:
10401002
4.

Dilated cardiomyopathy caused by LMNA mutations. Clinical and morphological studies.

Bilińska ZT, Sylvius N, Grzybowski J, Fidziańska A, Michalak E, Walczak E, Walski M, Bieganowska K, Szymaniak E, Kuśmierczyk-Droszcz B, Lubiszewska B, Wagner T, Tesson F, Ruzyłło W.

Kardiol Pol. 2006 Aug;64(8):812-9; discussion 820-1.

5.

High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.

van Tintelen JP, Hofstra RM, Katerberg H, Rossenbacker T, Wiesfeld AC, du Marchie Sarvaas GJ, Wilde AA, van Langen IM, Nannenberg EA, van der Kooi AJ, Kraak M, van Gelder IC, van Veldhuisen DJ, Vos Y, van den Berg MP; Working Group on Inherited Cardiac Disorders, line 27/50, Interuniversity Cardiology Institute of The Netherlands..

Am Heart J. 2007 Dec;154(6):1130-9. Epub 2007 Sep 14.

PMID:
18035086
6.

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
7.

[Familial predisposition and microbial etiology in dilated cardiomyopathy].

Pankuweit S, Richter A, Ruppert V, Maisch B.

Herz. 2009 Mar;34(2):110-6. doi: 10.1007/s00059-009-3200-2. German.

PMID:
19370326
8.

Novel MAPT Val75Ala mutation and PSEN2 Arg62Hys in two siblings with frontotemporal dementia.

Gallo M, Tomaino C, Puccio G, Frangipane F, Curcio SA, Bernardi L, Geracitano S, Anfossi M, Mirabelli M, Colao R, Vasso F, Smirne N, Maletta RG, Bruni AC.

Neurol Sci. 2010 Feb;31(1):65-70. doi: 10.1007/s10072-009-0132-9. Epub 2009 Sep 19.

PMID:
19768372
9.

Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.

Cruchaga C, Haller G, Chakraverty S, Mayo K, Vallania FL, Mitra RD, Faber K, Williamson J, Bird T, Diaz-Arrastia R, Foroud TM, Boeve BF, Graff-Radford NR, St Jean P, Lawson M, Ehm MG, Mayeux R, Goate AM; NIA-LOAD/NCRAD Family Study Consortium..

PLoS One. 2012;7(2):e31039. doi: 10.1371/journal.pone.0031039. Epub 2012 Feb 1. Erratum in: PLoS One. 2012;7(5): doi/10.1371/annotation/c92e16da-7733-421d-b063-1db19488daa6. Haller, Gabe [added]..

10.

Familial dilated cardiomyopathy with troponin T K210del mutation.

Martins E, Silva-Cardoso J, Alves C, Pereira H, Soares B, Damasceno A, Abreu-Lima C, Amorim A, Rocha-Gonçalves F.

Rev Port Cardiol. 2006 Mar;25(3):295-300.

PMID:
16789403
11.

Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.

Taylor MR, Fain PR, Sinagra G, Robinson ML, Robertson AD, Carniel E, Di Lenarda A, Bohlmeyer TJ, Ferguson DA, Brodsky GL, Boucek MM, Lascor J, Moss AC, Li WL, Stetler GL, Muntoni F, Bristow MR, Mestroni L; Familial Dilated Cardiomyopathy Registry Research Group..

J Am Coll Cardiol. 2003 Mar 5;41(5):771-80. Erratum in: J Am Coll Cardiol. 2003 Aug 6;42(3):590.

12.

[Familial dilated cardiomyopathy].

Osterziel KJ, Hassfeld S, Geier C, Perrot A.

Herz. 2005 Sep;30(6):529-34. Review. German.

PMID:
16170685
13.

A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy.

Kärkkäinen S, Heliö T, Miettinen R, Tuomainen P, Peltola P, Rummukainen J, Ylitalo K, Kaartinen M, Kuusisto J, Toivonen L, Nieminen MS, Laakso M, Peuhkurinen K.

Eur Heart J. 2004 May;25(10):885-93.

PMID:
15140538
14.

Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.

Jakobs PM, Hanson EL, Crispell KA, Toy W, Keegan H, Schilling K, Icenogle TB, Litt M, Hershberger RE.

J Card Fail. 2001 Sep;7(3):249-56.

PMID:
11561226
15.

[Genes in Alzheimer's disease].

Hoenicka J.

Rev Neurol. 2006 Mar 1-15;42(5):302-5. Review. Spanish.

16.

Alpha B-crystallin mutation in dilated cardiomyopathy.

Inagaki N, Hayashi T, Arimura T, Koga Y, Takahashi M, Shibata H, Teraoka K, Chikamori T, Yamashina A, Kimura A.

Biochem Biophys Res Commun. 2006 Apr 7;342(2):379-86. Epub 2006 Feb 8.

PMID:
16483541
17.

Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy.

Carniel E, Taylor MR, Sinagra G, Di Lenarda A, Ku L, Fain PR, Boucek MM, Cavanaugh J, Miocic S, Slavov D, Graw SL, Feiger J, Zhu XZ, Dao D, Ferguson DA, Bristow MR, Mestroni L.

Circulation. 2005 Jul 5;112(1):54-9.

18.

Genetic aspects of Alzheimer's disease.

Zekanowski C, Religa D, Graff C, Filipek S, Kuźnicki J.

Acta Neurobiol Exp (Wars). 2004;64(1):19-31. Review.

19.

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
20.

Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy.

Duboscq-Bidot L, Charron P, Ruppert V, Fauchier L, Richter A, Tavazzi L, Arbustini E, Wichter T, Maisch B, Komajda M, Isnard R, Villard E; EUROGENE Heart Failure Network..

Eur Heart J. 2009 Sep;30(17):2128-36. doi: 10.1093/eurheartj/ehp225. Epub 2009 Jun 12.

PMID:
19525294

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