PubMed (cited) for id: 601419

Year	Number of Results
1980	1
1981	1
1982	1
1989	1
1993	2
1994	1
1995	2
1997	1
1998	3
1999	2
2000	2
2003	2
2004	4
2007	3
2008	2
2009	2
2010	2
2011	1
2012	3
2013	2
2017	1
2018	1
2019	1
2024	0

1

Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin.

Riley LG, Waddell LB, Ghaoui R, Evesson FJ, Cummings BB, Bryen SJ, Joshi H, Wang MX, Brammah S, Kritharides L, Corbett A, MacArthur DG, Cooper ST. Riley LG, et al. Eur J Hum Genet. 2019 Aug;27(8):1267-1273. doi: 10.1038/s41431-019-0393-6. Epub 2019 Apr 25. Eur J Hum Genet. 2019. PMID: 31024060 Free PMC article.

2

229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.

Straub V, Murphy A, Udd B; LGMD workshop study group. Straub V, et al. Neuromuscul Disord. 2018 Aug;28(8):702-710. doi: 10.1016/j.nmd.2018.05.007. Epub 2018 May 24. Neuromuscul Disord. 2018. PMID: 30055862 No abstract available.

3

Restrictive cardiomyopathy due to novel desmin gene mutation.

Ojrzyńska N, Bilińska ZT, Franaszczyk M, Płoski R, Grzybowski J. Ojrzyńska N, et al. Kardiol Pol. 2017;75(7):723. doi: 10.5603/KP.2017.0129. Kardiol Pol. 2017. PMID: 28703267 Free article. No abstract available.

4

A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.

Cetin N, Balci-Hayta B, Gundesli H, Korkusuz P, Purali N, Talim B, Tan E, Selcen D, Erdem-Ozdamar S, Dincer P. Cetin N, et al. J Med Genet. 2013 Jul;50(7):437-43. doi: 10.1136/jmedgenet-2012-101487. Epub 2013 May 18. J Med Genet. 2013. PMID: 23687351

5

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. Gudkova A, et al. Pediatr Cardiol. 2013 Feb;34(2):467-70. doi: 10.1007/s00246-012-0312-x. Epub 2012 Apr 7. Pediatr Cardiol. 2013. PMID: 22484823

6

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.

7

Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics.

Greenberg SA, Salajegheh M, Judge DP, Feldman MW, Kuncl RW, Waldon Z, Steen H, Wagner KR. Greenberg SA, et al. Ann Neurol. 2012 Jan;71(1):141-5. doi: 10.1002/ana.22649. Ann Neurol. 2012. PMID: 22275259

8

Desmin-related myopathy.

van Spaendonck-Zwarts KY, van Hessem L, Jongbloed JD, de Walle HE, Capetanaki Y, van der Kooi AJ, van Langen IM, van den Berg MP, van Tintelen JP. van Spaendonck-Zwarts KY, et al. Clin Genet. 2011 Oct;80(4):354-66. doi: 10.1111/j.1399-0004.2010.01512.x. Epub 2010 Jul 21. Clin Genet. 2011. PMID: 20718792 Review.

9

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

10

Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.

van Tintelen JP, Van Gelder IC, Asimaki A, Suurmeijer AJ, Wiesfeld AC, Jongbloed JD, van den Wijngaard A, Kuks JB, van Spaendonck-Zwarts KY, Notermans N, Boven L, van den Heuvel F, Veenstra-Knol HE, Saffitz JE, Hofstra RM, van den Berg MP. van Tintelen JP, et al. Heart Rhythm. 2009 Nov;6(11):1574-83. doi: 10.1016/j.hrthm.2009.07.041. Epub 2009 Jul 28. Heart Rhythm. 2009. PMID: 19879535

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