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Items: 11

1.

What Should the Cardiologist know about Lamin Disease?

Charron P, Arbustini E, Bonne G.

Arrhythm Electrophysiol Rev. 2012 Sep;1(1):22-8. doi: 10.15420/aer.2012.1.1.22.

2.

A novel role of PRR14 in the regulation of skeletal myogenesis.

Yang M, Yuan ZM.

Cell Death Dis. 2015 Apr 23;6:e1734. doi: 10.1038/cddis.2015.103.

3.

Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies.

Peeters K, Chamova T, Jordanova A.

Brain. 2014 Nov;137(Pt 11):2879-96. doi: 10.1093/brain/awu169. Epub 2014 Jun 25. Review.

4.

Whole-exome sequencing to identify a novel LMNA gene mutation associated with inherited cardiac conduction disease.

Lai CC, Yeh YH, Hsieh WP, Kuo CT, Wang WC, Chu CH, Hung CL, Cheng CY, Tsai HY, Lee JL, Tang CY, Hsu LA.

PLoS One. 2013 Dec 12;8(12):e83322. doi: 10.1371/journal.pone.0083322. eCollection 2013.

5.

Identification of a novel muscle A-type lamin-interacting protein (MLIP).

Ahmady E, Deeke SA, Rabaa S, Kouri L, Kenney L, Stewart AF, Burgon PG.

J Biol Chem. 2011 Jun 3;286(22):19702-13. doi: 10.1074/jbc.M110.165548. Epub 2011 Apr 15.

6.

Prediction of disease-related mutations affecting protein localization.

Laurila K, Vihinen M.

BMC Genomics. 2009 Mar 23;10:122. doi: 10.1186/1471-2164-10-122.

7.

Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice.

Puckelwartz MJ, Kessler E, Zhang Y, Hodzic D, Randles KN, Morris G, Earley JU, Hadhazy M, Holaska JM, Mewborn SK, Pytel P, McNally EM.

Hum Mol Genet. 2009 Feb 15;18(4):607-20. doi: 10.1093/hmg/ddn386. Epub 2008 Nov 13.

8.

Dysfunctional connections between the nucleus and the actin and microtubule networks in laminopathic models.

Hale CM, Shrestha AL, Khatau SB, Stewart-Hutchinson PJ, Hernandez L, Stewart CL, Hodzic D, Wirtz D.

Biophys J. 2008 Dec;95(11):5462-75. doi: 10.1529/biophysj.108.139428. Epub 2008 Sep 12.

9.
10.

Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation.

Reichart B, Klafke R, Dreger C, Krüger E, Motsch I, Ewald A, Schäfer J, Reichmann H, Müller CR, Dabauvalle MC.

BMC Cell Biol. 2004 Mar 30;5:12.

11.

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.

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