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Items: 1 to 20 of 109

1.

Desmin mutations and arrhythmogenic right ventricular cardiomyopathy.

Lorenzon A, Beffagna G, Bauce B, De Bortoli M, Li Mura IE, Calore M, Dazzo E, Basso C, Nava A, Thiene G, Rampazzo A.

Am J Cardiol. 2013 Feb 1;111(3):400-5. doi: 10.1016/j.amjcard.2012.10.017. Epub 2012 Nov 17.

2.

Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks.

Otten E, Asimaki A, Maass A, van Langen IM, van der Wal A, de Jonge N, van den Berg MP, Saffitz JE, Wilde AA, Jongbloed JD, van Tintelen JP.

Heart Rhythm. 2010 Aug;7(8):1058-64. doi: 10.1016/j.hrthm.2010.04.023. Epub 2010 Apr 24.

PMID:
20423733
3.

Screening of pathogenic genes in Chinese patients with arrhythmogenic right ventricular cardiomyopathy.

Bao JR, Wang JZ, Yao Y, Wang YL, Fan XH, Sun K, Zhang S, Hui RT, Song L.

Chin Med J (Engl). 2013 Nov;126(22):4238-41.

PMID:
24238504
4.

Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening.

Roux-Buisson N, Gandjbakhch E, Donal E, Probst V, Deharo JC, Chevalier P, Klug D, Mansencal N, Delacretaz E, Cosnay P, Scanu P, Extramiana F, Keller D, Hidden-Lucet F, Trapani J, Fouret P, Frank R, Fressart V, Fauré J, Lunardi J, Charron P.

Heart Rhythm. 2014 Nov;11(11):1999-2009. doi: 10.1016/j.hrthm.2014.07.020. Epub 2014 Jul 17.

5.

Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy.

Pilichou K, Nava A, Basso C, Beffagna G, Bauce B, Lorenzon A, Frigo G, Vettori A, Valente M, Towbin J, Thiene G, Danieli GA, Rampazzo A.

Circulation. 2006 Mar 7;113(9):1171-9. Epub 2006 Feb 27.

6.

De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.

Klauke B, Kossmann S, Gaertner A, Brand K, Stork I, Brodehl A, Dieding M, Walhorn V, Anselmetti D, Gerdes D, Bohms B, Schulz U, Zu Knyphausen E, Vorgerd M, Gummert J, Milting H.

Hum Mol Genet. 2010 Dec 1;19(23):4595-607. doi: 10.1093/hmg/ddq387. Epub 2010 Sep 9.

PMID:
20829228
7.

Comprehensive analysis of desmosomal gene mutations in Han Chinese patients with arrhythmogenic right ventricular cardiomyopathy.

Zhou X, Chen M, Song H, Wang B, Chen H, Wang J, Wang W, Feng S, Zhang F, Ju W, Li M, Gu K, Cao K, Wang DW, Yang B.

Eur J Med Genet. 2015 Apr;58(4):258-65. doi: 10.1016/j.ejmg.2015.02.009. Epub 2015 Mar 9.

PMID:
25765472
8.

Arrhythmogenic right ventricular cardiomyopathy due to a novel plakophilin 2 mutation: wide spectrum of disease in mutation carriers within a family.

Kannankeril PJ, Bhuiyan ZA, Darbar D, Mannens MM, Wilde AA, Roden DM.

Heart Rhythm. 2006 Aug;3(8):939-44. Epub 2006 May 3.

PMID:
16876743
9.

Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy.

van Hengel J, Calore M, Bauce B, Dazzo E, Mazzotti E, De Bortoli M, Lorenzon A, Li Mura IE, Beffagna G, Rigato I, Vleeschouwers M, Tyberghein K, Hulpiau P, van Hamme E, Zaglia T, Corrado D, Basso C, Thiene G, Daliento L, Nava A, van Roy F, Rampazzo A.

Eur Heart J. 2013 Jan;34(3):201-10. doi: 10.1093/eurheartj/ehs373. Epub 2012 Nov 7.

PMID:
23136403
10.

Modeling of arrhythmogenic right ventricular cardiomyopathy with human induced pluripotent stem cells.

Caspi O, Huber I, Gepstein A, Arbel G, Maizels L, Boulos M, Gepstein L.

Circ Cardiovasc Genet. 2013 Dec;6(6):557-68. doi: 10.1161/CIRCGENETICS.113.000188. Epub 2013 Nov 7.

11.

Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Bauce B, Nava A, Beffagna G, Basso C, Lorenzon A, Smaniotto G, De Bortoli M, Rigato I, Mazzotti E, Steriotis A, Marra MP, Towbin JA, Thiene G, Danieli GA, Rampazzo A.

Heart Rhythm. 2010 Jan;7(1):22-9. doi: 10.1016/j.hrthm.2009.09.070. Epub 2009 Oct 12.

PMID:
20129281
12.

Screening of genes encoding junctional candidates in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Gandjbakhch E, Vite A, Gary F, Fressart V, Donal E, Simon F, Hidden-Lucet F, Komajda M, Charron P, Villard E.

Europace. 2013 Oct;15(10):1522-5. doi: 10.1093/europace/eut224. Epub 2013 Jul 14.

PMID:
23858024
13.

Myocardial expression profiles of candidate molecules in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia compared to those with dilated cardiomyopathy and healthy controls.

Akdis D, Medeiros-Domingo A, Gaertner-Rommel A, Kast JI, Enseleit F, Bode P, Klingel K, Kandolf R, Renois F, Andreoletti L, Akdis CA, Milting H, Lüscher TF, Brunckhorst C, Saguner AM, Duru F.

Heart Rhythm. 2016 Mar;13(3):731-41. doi: 10.1016/j.hrthm.2015.11.010. Epub 2015 Nov 10.

14.

Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes.

Taylor M, Graw S, Sinagra G, Barnes C, Slavov D, Brun F, Pinamonti B, Salcedo EE, Sauer W, Pyxaras S, Anderson B, Simon B, Bogomolovas J, Labeit S, Granzier H, Mestroni L.

Circulation. 2011 Aug 23;124(8):876-85. doi: 10.1161/CIRCULATIONAHA.110.005405. Epub 2011 Aug 1.

15.

Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy.

Syrris P, Ward D, Asimaki A, Sen-Chowdhry S, Ebrahim HY, Evans A, Hitomi N, Norman M, Pantazis A, Shaw AL, Elliott PM, McKenna WJ.

Circulation. 2006 Jan 24;113(3):356-64. Epub 2006 Jan 16.

16.

Correlation of ventricular arrhythmias with genotype in arrhythmogenic right ventricular cardiomyopathy.

Bao J, Wang J, Yao Y, Wang Y, Fan X, Sun K, He DS, Marcus FI, Zhang S, Hui R, Song L.

Circ Cardiovasc Genet. 2013 Dec;6(6):552-6. doi: 10.1161/CIRCGENETICS.113.000122. Epub 2013 Oct 14.

17.

LMNA cardiomyopathy detected in Japanese arrhythmogenic right ventricular cardiomyopathy cohort.

Kato K, Takahashi N, Fujii Y, Umehara A, Nishiuchi S, Makiyama T, Ohno S, Horie M.

J Cardiol. 2016 Oct;68(4):346-51. doi: 10.1016/j.jjcc.2015.10.013. Epub 2015 Nov 25.

PMID:
26620845
18.

Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.

van Tintelen JP, Van Gelder IC, Asimaki A, Suurmeijer AJ, Wiesfeld AC, Jongbloed JD, van den Wijngaard A, Kuks JB, van Spaendonck-Zwarts KY, Notermans N, Boven L, van den Heuvel F, Veenstra-Knol HE, Saffitz JE, Hofstra RM, van den Berg MP.

Heart Rhythm. 2009 Nov;6(11):1574-83. doi: 10.1016/j.hrthm.2009.07.041. Epub 2009 Jul 28.

PMID:
19879535
19.

Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy.

Mayosi BM, Fish M, Shaboodien G, Mastantuono E, Kraus S, Wieland T, Kotta MC, Chin A, Laing N, Ntusi NB, Chong M, Horsfall C, Pimstone SN, Gentilini D, Parati G, Strom TM, Meitinger T, Pare G, Schwartz PJ, Crotti L.

Circ Cardiovasc Genet. 2017 Apr;10(2). pii: e001605. doi: 10.1161/CIRCGENETICS.116.001605.

PMID:
28280076
20.

The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death.

Brodehl A, Dieding M, Klauke B, Dec E, Madaan S, Huang T, Gargus J, Fatima A, Saric T, Cakar H, Walhorn V, Tönsing K, Skrzipczyk T, Cebulla R, Gerdes D, Schulz U, Gummert J, Svendsen JH, Olesen MS, Anselmetti D, Christensen AH, Kimonis V, Milting H.

Circ Cardiovasc Genet. 2013 Dec;6(6):615-23. doi: 10.1161/CIRCGENETICS.113.000103. Epub 2013 Nov 7.

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