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Items: 1 to 20 of 84

1.

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.

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
3.

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
4.

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
5.

Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy.

Dunand M, Lobrinus JA, Jeannet PY, Behin A, Claeys KG, Selcen D, Kuntzer T.

Neuromuscul Disord. 2009 Nov;19(11):802. doi: 10.1016/j.nmd.2009.07.013. Epub 2009 Aug 28. No abstract available.

PMID:
19716701
6.

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
7.

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.

8.

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.

Dalakas MC, Park KY, Semino-Mora C, Lee HS, Sivakumar K, Goldfarb LG.

N Engl J Med. 2000 Mar 16;342(11):770-80.

9.

[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
10.

[Correlation between desmin gene, platelet-activating factor acetylhydrolase gene and dilated cardiomyopathy].

Wang B, Rao L, Zhang L, Zhou B, Wang YP, Chen XY.

Sichuan Da Xue Xue Bao Yi Xue Ban. 2006 May;37(3):391-4. Chinese.

PMID:
16761416
11.

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
12.

[Clinical characteristics and desmin mutations in patients with desminopathy associated cardiomyopathy from 5 Chinese families].

Hong DJ, Zhang W, Jiang TY, Feng L, Wang ZX, Yuan Y.

Zhonghua Xin Xue Guan Bing Za Zhi. 2010 May;38(5):420-4. Chinese.

PMID:
20654101
13.

A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy.

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

J Mol Med (Berl). 2003 Dec;81(12):795-800. Epub 2003 Oct 15.

PMID:
14564412
14.

Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation.

Pruszczyk P, Kostera-Pruszczyk A, Shatunov A, Goudeau B, Dramiñska A, Takeda K, Sambuughin N, Vicart P, Strelkov SV, Goldfarb LG, Kamiñska A.

Int J Cardiol. 2007 Apr 25;117(2):244-53. Epub 2006 Aug 4.

PMID:
16890305
15.

Characterization of the canine desmin (DES) gene and evaluation as a candidate gene for dilated cardiomyopathy in the Dobermann.

Stabej P, Imholz S, Versteeg SA, Zijlstra C, Stokhof AA, Domanjko-Petric A, Leegwater PA, van Oost BA.

Gene. 2004 Oct 13;340(2):241-9.

PMID:
15475165
16.

Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.

Walter MC, Reilich P, Huebner A, Fischer D, Schröder R, Vorgerd M, Kress W, Born C, Schoser BG, Krause KH, Klutzny U, Bulst S, Frey JR, Lochmüller H.

Brain. 2007 Jun;130(Pt 6):1485-96. Epub 2007 Apr 17.

PMID:
17439987
17.

The absence of desmin leads to cardiomyocyte hypertrophy and cardiac dilation with compromised systolic function.

Milner DJ, Taffet GE, Wang X, Pham T, Tamura T, Hartley C, Gerdes AM, Capetanaki Y.

J Mol Cell Cardiol. 1999 Nov;31(11):2063-76.

PMID:
10591032
18.

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.

19.

[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
20.

Immunoadsorption and subsequent immunoglobulin substitution decreases myocardial gene expression of desmin in dilated cardiomyopathy.

Kallwellis-Opara A, Staudt A, Trimpert C, Noutsias M, Kühl U, Pauschinger M, Schultheiss HP, Grube M, Böhm M, Baumann G, Völker U, Kroemer HK, Felix SB.

J Mol Med (Berl). 2007 Dec;85(12):1429-35. Epub 2007 Oct 9.

PMID:
17924085

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