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Results: 1 to 20 of 98

1.

Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes.

Gudkova A, Kostareva A, Sjoberg G, Smolina N, Turalchuk M, Kuznetsova I, Rybakova M, Edstrom L, Shlyakhto E, Sejersen T.

Pediatr Cardiol. 2013 Feb;34(2):467-70. doi: 10.1007/s00246-012-0312-x. Epub 2012 Apr 7.

PMID:
22484823
[PubMed - indexed for MEDLINE]
2.

Desmin mutations in a St. Petersburg cohort of cardiomyopathies.

Kostareva A, Gudkova A, Sjoberg G, Kiselev I, Moiseeva O, Karelkina E, Goldfarb L, Schlyakhto E, Sejersen T.

Acta Myol. 2006 Dec;25(3):109-15.

PMID:
17626518
[PubMed - indexed for MEDLINE]
3.

Epidemiology of desmin and cardiac actin gene mutations in a european population of dilated cardiomyopathy.

Tesson F, Sylvius N, Pilotto A, Dubosq-Bidot L, Peuchmaurd M, Bouchier C, Benaiche A, Mangin L, Charron P, Gavazzi A, Tavazzi L, Arbustini E, Komajda M.

Eur Heart J. 2000 Nov;21(22):1872-6.

PMID:
11052860
[PubMed - indexed for MEDLINE]
Free Article
4.

[Genetics of dilated cardiomyopathy].

Osterziel KJ, Scheffold T, Perrot A, Dietz R; Netzwerk Myokardiale Erkrankungen.

Z Kardiol. 2001 Jul;90(7):461-9. Review. German.

PMID:
11515275
[PubMed - indexed for MEDLINE]
5.

Desmin mutation responsible for idiopathic dilated cardiomyopathy.

Li D, Tapscoft T, Gonzalez O, Burch PE, Quiñones MA, Zoghbi WA, Hill R, Bachinski LL, Mann DL, Roberts R.

Circulation. 1999 Aug 3;100(5):461-4.

PMID:
10430757
[PubMed - indexed for MEDLINE]
Free Article
6.

Frequency and clinical characteristics of dilated cardiomyopathy caused by desmin gene mutation in a Japanese population.

Miyamoto Y, Akita H, Shiga N, Takai E, Iwai C, Mizutani K, Kawai H, Takarada A, Yokoyama M.

Eur Heart J. 2001 Dec;22(24):2284-9.

PMID:
11728149
[PubMed - indexed for MEDLINE]
Free Article
7.

Late gadolinium enhanced cardiovascular magnetic resonance of lamin A/C gene mutation related dilated cardiomyopathy.

Holmström M, Kivistö S, Heliö T, Jurkko R, Kaartinen M, Antila M, Reissell E, Kuusisto J, Kärkkäinen S, Peuhkurinen K, Koikkalainen J, Lötjönen J, Lauerma K.

J Cardiovasc Magn Reson. 2011 Jun 20;13:30. doi: 10.1186/1532-429X-13-30.

PMID:
21689390
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Desmin A213V substitution represents a rare polymorphism but not a mutation and is more prevalent in patients with heart dilation of various origins.

Kostareva A, Sjoberg G, Gudkova A, Smolina N, Semernin E, Shlyakhto E, Sejersen T.

Acta Myol. 2011 Jun;30(1):42-5.

PMID:
21842594
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype.

Charniot JC, Pascal C, Bouchier C, Sébillon P, Salama J, Duboscq-Bidot L, Peuchmaurd M, Desnos M, Artigou JY, Komajda M.

Hum Mutat. 2003 May;21(5):473-81.

PMID:
12673789
[PubMed - indexed for MEDLINE]
10.

Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.

Arbustini E, Pasotti M, Pilotto A, Pellegrini C, Grasso M, Previtali S, Repetto A, Bellini O, Azan G, Scaffino M, Campana C, Piccolo G, Viganò M, Tavazzi L.

Eur J Heart Fail. 2006 Aug;8(5):477-83. Epub 2005 Dec 22.

PMID:
16376610
[PubMed - indexed for MEDLINE]
11.

Retrospective analysis of magnetic resonance myocardial delayed enhancement.

Zhang ZH, Miao Q, Lin SB, Zhang SY, Li DJ, Chen LB, Zhang H, Wang YN, Zhou L, Kong LY, Feng F, You H, Sun HY, Zhao WM, Zhang LR, Jin ZY.

Chin Med Sci J. 2006 Dec;21(4):245-51.

PMID:
17249200
[PubMed - indexed for MEDLINE]
12.

Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene.

Bergman JE, Veenstra-Knol HE, van Essen AJ, van Ravenswaaij CM, den Dunnen WF, van den Wijngaard A, van Tintelen JP.

Eur J Med Genet. 2007 Sep-Oct;50(5):355-66. Epub 2007 Jul 15.

PMID:
17720647
[PubMed - indexed for MEDLINE]
13.

Prevalence of desmin mutations in dilated cardiomyopathy.

Taylor MR, Slavov D, Ku L, Di Lenarda A, Sinagra G, Carniel E, Haubold K, Boucek MM, Ferguson D, Graw SL, Zhu X, Cavanaugh J, Sucharov CC, Long CS, Bristow MR, Lavori P, Mestroni L; Familial Cardiomyopathy Registry; BEST (Beta-Blocker Evaluation of Survival Trial) DNA Bank.

Circulation. 2007 Mar 13;115(10):1244-51. Epub 2007 Feb 26.

PMID:
17325244
[PubMed - indexed for MEDLINE]
Free Article
14.

[Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material without mutation of the alphabeta-crystallin gene].

Pou Serradell A, Lloreta Trull J, Corominas Torres J, Guicheney P.

Neurologia. 2001 May;16(5):195-203. Spanish.

PMID:
11412718
[PubMed - indexed for MEDLINE]
15.

Role of cardiac magnetic resonance imaging in assessment of nonischemic cardiomyopathies.

Shehata ML, Turkbey EB, Vogel-Claussen J, Bluemke DA.

Top Magn Reson Imaging. 2008 Feb;19(1):43-57. doi: 10.1097/RMR.0b013e31816fcb22. Review.

PMID:
18690160
[PubMed - indexed for MEDLINE]
16.

Myocardial fibrosis in desmin-related hypertrophic cardiomyopathy.

He Y, Zhang Z, Hong D, Dai Q, Jiang T.

J Cardiovasc Magn Reson. 2010 Nov 18;12:68. doi: 10.1186/1532-429X-12-68.

PMID:
21083940
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Mutations in the cardiac Troponin C gene are a cause of idiopathic dilated cardiomyopathy in childhood.

Kaski JP, Burch M, Elliott PM.

Cardiol Young. 2007 Dec;17(6):675-7. Epub 2007 Nov 1.

PMID:
17977476
[PubMed - indexed for MEDLINE]
18.

Letter by Ellims et al regarding article, "myocardial tissue characterization using magnetic resonance noncontrast t1 mapping in hypertrophic and dilated cardiomyopathy".

Ellims AH, Iles LM, Taylor AJ.

Circ Cardiovasc Imaging. 2013 Mar 1;6(2):e1. doi: 10.1161/CIRCIMAGING.112.000064. No abstract available.

PMID:
23512783
[PubMed - indexed for MEDLINE]
Free Article
19.

Restrictive cardiomyopathy due to desmin accumulation in a family with evidence of autosomal dominant inheritance.

Zachara E, Bertini E, Lioy E, Boldrini R, Prati PL, Bosman C.

G Ital Cardiol. 1997 May;27(5):436-42.

PMID:
9199955
[PubMed - indexed for MEDLINE]
20.

Restrictive cardiomyopathy, atrioventricular block and mild to subclinical myopathy in patients with desmin-immunoreactive material deposits.

Arbustini E, Morbini P, Grasso M, Fasani R, Verga L, Bellini O, Dal Bello B, Campana C, Piccolo G, Febo O, Opasich C, Gavazzi A, Ferrans VJ.

J Am Coll Cardiol. 1998 Mar 1;31(3):645-53.

PMID:
9502648
[PubMed - indexed for MEDLINE]
Free Article
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