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Items: 1 to 20 of 113

1.

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.

2.

Evolution of the phenotype in a family with an LMNA gene mutation presenting with isolated cardiac involvement.

Carboni N, Porcu M, Mura M, Cocco E, Marrosu G, Maioli MA, Solla E, Tranquilli S, Orrù P, Marrosu MG.

Muscle Nerve. 2010 Jan;41(1):85-91. doi: 10.1002/mus.21443.

PMID:
19768759
3.

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
4.

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
5.

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.

6.

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.

7.

A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene.

Ambrosi P, Kreitmann B, Lepidi H, Habib G, Levy N, Philip N, De Sandre-Giovannoli A.

Int J Cardiol. 2016 Apr 15;209:317-8. doi: 10.1016/j.ijcard.2016.02.113. Epub 2016 Feb 16. No abstract available.

PMID:
26922292
8.

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.

9.

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
10.

The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins.

Al-Saaidi R, Rasmussen TB, Palmfeldt J, Nissen PH, Beqqali A, Hansen J, Pinto YM, Boesen T, Mogensen J, Bross P.

Exp Cell Res. 2013 Nov 15;319(19):3010-9. doi: 10.1016/j.yexcr.2013.08.024. Epub 2013 Aug 31.

PMID:
24001739
11.

Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene.

D'Amico A, Benedetti S, Petrini S, Sambuughin N, Boldrini R, Menditto I, Ferrari M, Verardo M, Goldfarb L, Bertini E.

Neuromuscul Disord. 2005 Dec;15(12):847-50. Epub 2005 Nov 8.

PMID:
16288872
12.

Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy.

Perrot A, Hussein S, Ruppert V, Schmidt HH, Wehnert MS, Duong NT, Posch MG, Panek A, Dietz R, Kindermann I, Böhm M, Michalewska-Wludarczyk A, Richter A, Maisch B, Pankuweit S, Ozcelik C.

Basic Res Cardiol. 2009 Jan;104(1):90-9. doi: 10.1007/s00395-008-0748-6. Epub 2008 Sep 15.

PMID:
18795223
13.

Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.

Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Peterson A, Li D, Jakobs P, Litt M, Porter CB, Rahko PS, Hershberger RE.

Am Heart J. 2008 Jul;156(1):161-9. doi: 10.1016/j.ahj.2008.01.026. Epub 2008 Mar 12.

14.

Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies.

Scharner J, Lu HC, Fraternali F, Ellis JA, Zammit PS.

Proteins. 2014 Jun;82(6):904-15. doi: 10.1002/prot.24465. Epub 2013 Dec 26.

PMID:
24375749
15.

Identification of novel mutations in LMNA associated with familial forms of dilated cardiomyopathy.

Stallmeyer B, Koopmann M, Schulze-Bahr E.

Genet Test Mol Biomarkers. 2012 Jun;16(6):543-9. doi: 10.1089/gtmb.2011.0214. Epub 2012 Jan 6.

PMID:
22224630
16.

Mutations in the LMNA gene encoding lamin A/C.

Genschel J, Schmidt HH.

Hum Mutat. 2000 Dec;16(6):451-9. Review.

PMID:
11102973
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.

The laminopathies: a clinical review.

Rankin J, Ellard S.

Clin Genet. 2006 Oct;70(4):261-74. Review. Erratum in: Clin Genet. 2007 Mar;71(3):293.

PMID:
16965317
20.

Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene.

Ruggiero L, Fiorillo C, Tessa A, Manganelli F, Iodice R, Dubbioso R, Vitale F, Storti E, Soscia E, Santorelli F, Santoro L.

Muscle Nerve. 2015 Apr;51(4):604-8. doi: 10.1002/mus.24467. Epub 2015 Feb 24.

PMID:
25256213

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