Similar articles for PMID: 22395865

Year	Number of Results
1996	1
1999	2
2000	4
2001	1
2003	3
2005	3
2006	7
2007	4
2008	2
2009	3
2010	6
2011	5
2012	8
2013	17
2014	4
2015	9
2016	7
2017	10
2018	8
2019	9
2020	7
2021	1
2024	0

1

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.

Hedberg C, Melberg A, Kuhl A, Jenne D, Oldfors A. Hedberg C, et al. Eur J Hum Genet. 2012 Sep;20(9):984-5. doi: 10.1038/ejhg.2012.39. Epub 2012 Mar 7. Eur J Hum Genet. 2012. PMID: 22395865 Free PMC article.

2

Functional characterization of desmin mutant p.P419S.

Brodehl A, Dieding M, Cakar H, Klauke B, Walhorn V, Gummert J, Anselmetti D, Milting H. Brodehl A, et al. Eur J Hum Genet. 2013 Jun;21(6):589-90. doi: 10.1038/ejhg.2012.212. Epub 2012 Oct 3. Eur J Hum Genet. 2013. PMID: 23032110 Free PMC article. No abstract available.

3

Reply to Brodehl et al.

Hedberg C, Melberg A, Kuhl A, Jenne D, Oldfors A. Hedberg C, et al. Eur J Hum Genet. 2013 Jun;21(6):590. doi: 10.1038/ejhg.2012.214. Epub 2012 Oct 3. Eur J Hum Genet. 2013. PMID: 23032113 Free PMC article. No abstract available.

4

Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia.

Bermúdez-Jiménez FJ, Carriel V, Brodehl A, Alaminos M, Campos A, Schirmer I, Milting H, Abril BÁ, Álvarez M, López-Fernández S, García-Giustiniani D, Monserrat L, Tercedor L, Jiménez-Jáimez J. Bermúdez-Jiménez FJ, et al. Circulation. 2018 Apr 10;137(15):1595-1610. doi: 10.1161/CIRCULATIONAHA.117.028719. Epub 2017 Dec 6. Circulation. 2018. PMID: 29212896 Free article.

5

Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks.

Otten E, Asimaki A, Maass A, van Langen IM, van der Wal A, de Jonge N, van den Berg MP, Saffitz JE, Wilde AA, Jongbloed JD, van Tintelen JP. Otten E, et al. Heart Rhythm. 2010 Aug;7(8):1058-64. doi: 10.1016/j.hrthm.2010.04.023. Epub 2010 Apr 24. Heart Rhythm. 2010. PMID: 20423733

6

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q.

Melberg A, Oldfors A, Blomström-Lundqvist C, Stålberg E, Carlsson B, Larrson E, Lidell C, Eeg-Olofsson KE, Wikström G, Henriksson G, Dahl N. Melberg A, et al. Ann Neurol. 1999 Nov;46(5):684-92. doi: 10.1002/1531-8249(199911)46:5<684::aid-ana2>3.0.co;2-#. Ann Neurol. 1999. PMID: 10970245

7

De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.

Klauke B, Kossmann S, Gaertner A, Brand K, Stork I, Brodehl A, Dieding M, Walhorn V, Anselmetti D, Gerdes D, Bohms B, Schulz U, Zu Knyphausen E, Vorgerd M, Gummert J, Milting H. Klauke B, et al. Hum Mol Genet. 2010 Dec 1;19(23):4595-607. doi: 10.1093/hmg/ddq387. Epub 2010 Sep 9. Hum Mol Genet. 2010. PMID: 20829228

8

Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect.

Brodehl A, Dieding M, Biere N, Unger A, Klauke B, Walhorn V, Gummert J, Schulz U, Linke WA, Gerull B, Vorgert M, Anselmetti D, Milting H. Brodehl A, et al. J Mol Cell Cardiol. 2016 Feb;91:207-14. doi: 10.1016/j.yjmcc.2015.12.015. Epub 2015 Dec 23. J Mol Cell Cardiol. 2016. PMID: 26724190

9

Desmin mutations and arrhythmogenic right ventricular cardiomyopathy.

Lorenzon A, Beffagna G, Bauce B, De Bortoli M, Li Mura IE, Calore M, Dazzo E, Basso C, Nava A, Thiene G, Rampazzo A. Lorenzon A, et al. Am J Cardiol. 2013 Feb 1;111(3):400-5. doi: 10.1016/j.amjcard.2012.10.017. Epub 2012 Nov 17. Am J Cardiol. 2013. PMID: 23168288 Free PMC article.

10

Compound and heterozygous mutations of DSG2 identified by Whole Exome Sequencing in arrhythmogenic right ventricular cardiomyopathy/dysplasia with ventricular tachycardia.

Lin Y, Huang J, Zhao T, He S, Huang Z, Chen X, Fei H, Luo H, Liu H, Wu S, Lin X. Lin Y, et al. J Electrocardiol. 2018 Sep-Oct;51(5):837-843. doi: 10.1016/j.jelectrocard.2018.06.012. Epub 2018 Jun 20. J Electrocardiol. 2018. PMID: 30177324

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