Similar articles for PMID: 14648196

Year	Number of Results
1841	1
1842	1
1988	1
1994	1
1995	2
1996	4
1997	1
1998	6
1999	1
2000	6
2001	5
2002	1
2003	5
2004	6
2005	4
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2007	10
2008	3
2009	4
2010	4
2011	3
2012	2
2013	6
2014	3
2015	7
2016	3
2017	4
2018	3
2019	7
2020	4
2021	4
2022	6
2023	2
2024	0

1

Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy.

Kaminska A, Strelkov SV, Goudeau B, Olivé M, Dagvadorj A, Fidzianska A, Simon-Casteras M, Shatunov A, Dalakas MC, Ferrer I, Kwiecinski H, Vicart P, Goldfarb LG. Kaminska A, et al. Hum Genet. 2004 Feb;114(3):306-13. doi: 10.1007/s00439-003-1057-7. Epub 2003 Nov 27. Hum Genet. 2004. PMID: 14648196

2

Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.

Dagvadorj A, Goudeau B, Hilton-Jones D, Blancato JK, Shatunov A, Simon-Casteras M, Squier W, Nagle JW, Goldfarb LG, Vicart P. Dagvadorj A, et al. Muscle Nerve. 2003 Jun;27(6):669-75. doi: 10.1002/mus.10370. Muscle Nerve. 2003. PMID: 12766977

3

Missense mutations in desmin associated with familial cardiac and skeletal myopathy.

Goldfarb LG, Park KY, Cervenáková L, Gorokhova S, Lee HS, Vasconcelos O, Nagle JW, Semino-Mora C, Sivakumar K, Dalakas MC. Goldfarb LG, et al. Nat Genet. 1998 Aug;19(4):402-3. doi: 10.1038/1300. Nat Genet. 1998. PMID: 9697706

4

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.

Dalakas MC, Park KY, Semino-Mora C, Lee HS, Sivakumar K, Goldfarb LG. Dalakas MC, et al. N Engl J Med. 2000 Mar 16;342(11):770-80. doi: 10.1056/NEJM200003163421104. N Engl J Med. 2000. PMID: 10717012 Free article.

5

A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin.

Dagvadorj A, Olivé M, Urtizberea JA, Halle M, Shatunov A, Bönnemann C, Park KY, Goebel HH, Ferrer I, Vicart P, Dalakas MC, Goldfarb LG. Dagvadorj A, et al. J Neurol. 2004 Feb;251(2):143-9. doi: 10.1007/s00415-004-0289-3. J Neurol. 2004. PMID: 14991347

6

Assembly defects of desmin disease mutants carrying deletions in the alpha-helical rod domain are rescued by wild type protein.

Bär H, Mücke N, Katus HA, Aebi U, Herrmann H. Bär H, et al. J Struct Biol. 2007 Apr;158(1):107-15. doi: 10.1016/j.jsb.2006.10.029. Epub 2006 Nov 10. J Struct Biol. 2007. PMID: 17188893

7

Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain.

Vernengo L, Chourbagi O, Panuncio A, Lilienbaum A, Batonnet-Pichon S, Bruston F, Rodrigues-Lima F, Mesa R, Pizzarossa C, Demay L, Richard P, Vicart P, Rodriguez MM. Vernengo L, et al. Neuromuscul Disord. 2010 Mar;20(3):178-87. doi: 10.1016/j.nmd.2010.01.001. Epub 2010 Feb 4. Neuromuscul Disord. 2010. PMID: 20133133

8

Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.

Bär H, Goudeau B, Wälde S, Casteras-Simon M, Mücke N, Shatunov A, Goldberg YP, Clarke C, Holton JL, Eymard B, Katus HA, Fardeau M, Goldfarb L, Vicart P, Herrmann H. Bär H, et al. Hum Mutat. 2007 Apr;28(4):374-86. doi: 10.1002/humu.20459. Hum Mutat. 2007. PMID: 17221859

9

Noncompaction cardiomyopathy is caused by a novel in-frame desmin (DES) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defect.

Marakhonov AV, Brodehl A, Myasnikov RP, Sparber PA, Kiseleva AV, Kulikova OV, Meshkov AN, Zharikova AA, Koretsky SN, Kharlap MS, Stanasiuk C, Mershina EA, Sinitsyn VE, Shevchenko AO, Mozheyko NP, Drapkina OM, Boytsov SA, Milting H, Skoblov MY. Marakhonov AV, et al. Hum Mutat. 2019 Jun;40(6):734-741. doi: 10.1002/humu.23747. Epub 2019 Apr 3. Hum Mutat. 2019. PMID: 30908796

10

How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy.

Clemen CS, Fischer D, Reimann J, Eichinger L, Müller CR, Müller HD, Goebel HH, Schröder R. Clemen CS, et al. Hum Mutat. 2009 Mar;30(3):E490-9. doi: 10.1002/humu.20941. Hum Mutat. 2009. PMID: 19105189

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