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Items: 1 to 20 of 105

1.

Severe dilated cardiomyopathy and quadriceps myopathy due to lamin A/C gene mutation: a phenotypic study.

Charniot JC, Desnos M, Zerhouni K, Bonnefont-Rousselot D, Albertini JP, Salama JZ, Bassez G, Komajda M, Artigou JY.

Eur J Heart Fail. 2006 May;8(3):249-56. Epub 2005 Nov 28.

2.

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
3.

Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy.

Antoniades L, Eftychiou C, Kyriakides T, Christodoulou K, Katritsis DG.

J Interv Card Electrophysiol. 2007 Jun;19(1):1-7. Epub 2007 Jun 29.

PMID:
17605093
4.

Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.

Sébillon P, Bouchier C, Bidot LD, Bonne G, Ahamed K, Charron P, Drouin-Garraud V, Millaire A, Desrumeaux G, Benaïche A, Charniot JC, Schwartz K, Villard E, Komajda M.

J Med Genet. 2003 Aug;40(8):560-7.

5.

[A novel lamin A/C mutation in a family with dilated cardiomyopathy and a strong history of sudden cardiac death].

Andreassi MG, Botto N, Vittorini S, Pulignani S, Aquaro G, Sicari R.

Recenti Prog Med. 2010 Mar;101(3):127-30. Italian.

PMID:
20461955
6.

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.

7.

Dilated cardiomyopathy and skeletal myopathy: presenting features of a laminopathy.

Sims-Williams HP, Nye HJ, Walker PR.

BMJ Case Rep. 2013 Jan 17;2013. pii: bcr2012007574. doi: 10.1136/bcr-2012-007574.

8.

Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement.

Schmidt HH, Lochs H.

Circulation. 2001 Jan 30;103(4):E20. No abstract available.

9.

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.

Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, Atherton J, Vidaillet HJ Jr, Spudich S, De Girolami U, Seidman JG, Seidman C, Muntoni F, Müehle G, Johnson W, McDonough B.

N Engl J Med. 1999 Dec 2;341(23):1715-24.

10.

A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation.

Hershberger RE, Hanson EL, Jakobs PM, Keegan H, Coates K, Bousman S, Litt M.

Am Heart J. 2002 Dec;144(6):1081-6.

PMID:
12486434
11.

Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation.

McPherson E, Turner L, Zador I, Reynolds K, Macgregor D, Giampietro PF.

Am J Med Genet A. 2009 Feb 15;149A(4):567-72. doi: 10.1002/ajmg.a.32627.

PMID:
19283854
12.

[Diseases associated with lamin A/C gene defects: what the clinical cardiologist ought to know].

Pasotti M, Repetto A, Pisani A, Arbustini E.

Ital Heart J Suppl. 2004 Feb;5(2):98-111. Review. Italian.

PMID:
15080529
13.

Genetic and phenotypic analysis of dilated cardiomyopathy with conduction system disease: demand for strategies in the management of presymptomatic lamin A/C mutant carriers.

Perrot A, Sigusch HH, Nägele H, Genschel J, Lehmkuhl H, Hetzer R, Geier C, Leon Perez V, Reinhard D, Dietz R, Josef Osterziel K, Schmidt HH.

Eur J Heart Fail. 2006 Aug;8(5):484-93. Epub 2006 Jan 4.

14.

Novel mutations in the lamin A/C gene in heart transplant recipients with end stage dilated cardiomyopathy.

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

Heart. 2006 Apr;92(4):524-6. No abstract available.

15.

Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduction defect.

Wang H, Wang J, Zheng W, Wang X, Wang S, Song L, Zou Y, Yao Y, Hui R.

Biochem Biophys Res Commun. 2006 May 26;344(1):17-24.

PMID:
16630578
16.

R25G mutation in exon 1 of LMNA gene is associated with dilated cardiomyopathy and limb-girdle muscular dystrophy 1B.

Yuan WL, Huang CY, Wang JF, Xie SL, Nie RQ, Liu YM, Liu PM, Zhou SX, Chen SQ, Huang WJ.

Chin Med J (Engl). 2009 Dec 5;122(23):2840-5.

PMID:
20092787
17.

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
18.

[A novel LMNA gene mutation E82K associated with familial dilated cardiomyopathy].

Wang H, Zheng WY, Wang JZ, Wang XJ, Zhen YS, Song L, Zou YB, Hui RT.

Zhonghua Xin Xue Guan Bing Za Zhi. 2005 Oct;33(10):875-9. Chinese.

PMID:
16266469
19.

Heart transplantation in 7 patients from a single family with limb-girdle muscular dystrophy caused by lamin A/C mutation.

Ambrosi P, Mouly-Bandini A, Attarian S, Habib G.

Int J Cardiol. 2009 Nov 12;137(3):e75-6. doi: 10.1016/j.ijcard.2009.04.036. Epub 2009 May 15.

PMID:
19446900
20.

The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy.

Møller DV, Pham TT, Gustafsson F, Hedley P, Ersbøll MK, Bundgaard H, Andersen CB, Torp-Pedersen C, Køber L, Christiansen M.

Eur J Heart Fail. 2009 Nov;11(11):1031-5. doi: 10.1093/eurjhf/hfp134. No abstract available.

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