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Items: 1 to 20 of 268

1.

Desminopathies in muscle disease.

Paulin D, Huet A, Khanamyrian L, Xue Z.

J Pathol. 2004 Nov;204(4):418-27. Review.

PMID:
15495235
2.

Desmin myopathy.

Goldfarb LG, Vicart P, Goebel HH, Dalakas MC.

Brain. 2004 Apr;127(Pt 4):723-34. Epub 2004 Jan 14. Review.

PMID:
14724127
3.

Gene-related protein surplus myopathies.

Goebel HH, Warlo I.

Mol Genet Metab. 2000 Sep-Oct;71(1-2):267-75. Review.

PMID:
11001821
4.

Expression of the intermediate filament protein synemin in myofibrillar myopathies and other muscle diseases.

Olivé M, Goldfarb L, Dagvadorj A, Sambuughin N, Paulin D, Li Z, Goudeau B, Vicart P, Ferrer I.

Acta Neuropathol. 2003 Jul;106(1):1-7. Epub 2003 Apr 1.

PMID:
12669240
5.

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.

N Engl J Med. 2000 Mar 16;342(11):770-80.

6.
7.

On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.

Schröder R, Goudeau B, Simon MC, Fischer D, Eggermann T, Clemen CS, Li Z, Reimann J, Xue Z, Rudnik-Schöneborn S, Zerres K, van der Ven PF, Fürst DO, Kunz WS, Vicart P.

Hum Mol Genet. 2003 Mar 15;12(6):657-69. Erratum in: Hum Mol Genet. 2007 Dec 1;16(23):2989-90.

PMID:
12620971
8.

Cytoskeletal derangements in hereditary myopathy with a desmin L345P mutation.

Carlsson L, Fischer C, Sjöberg G, Robson RM, Sejersen T, Thornell LE.

Acta Neuropathol. 2002 Nov;104(5):493-504. Epub 2002 Jul 3.

PMID:
12410397
9.

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.

Muscle Nerve. 2003 Jun;27(6):669-75.

PMID:
12766977
10.

Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.

Selcen D, Ohno K, Engel AG.

Brain. 2004 Feb;127(Pt 2):439-51. Epub 2004 Jan 7.

PMID:
14711882
11.

[Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material without mutation of the alphabeta-crystallin gene].

Pou Serradell A, Lloreta Trull J, Corominas Torres J, Guicheney P.

Neurologia. 2001 May;16(5):195-203. Spanish.

PMID:
11412718
12.

Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stages.

Bär H, Mücke N, Kostareva A, Sjöberg G, Aebi U, Herrmann H.

Proc Natl Acad Sci U S A. 2005 Oct 18;102(42):15099-104. Epub 2005 Oct 10.

13.

Desmin mutations in the terminal consensus motif prevent synemin-desmin heteropolymer filament assembly.

Chourbagi O, Bruston F, Carinci M, Xue Z, Vicart P, Paulin D, Agbulut O.

Exp Cell Res. 2011 Apr 1;317(6):886-97. doi: 10.1016/j.yexcr.2011.01.013. Epub 2011 Jan 22.

PMID:
21262226
14.

Molecular pathology of myofibrillar myopathies.

Ferrer I, Olivé M.

Expert Rev Mol Med. 2008 Sep 3;10:e25. doi: 10.1017/S1462399408000793. Review.

PMID:
18764962
15.

Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation.

Arias M, Pardo J, Blanco-Arias P, Sobrido MJ, Arias S, Dapena D, Carracedo A, Goldfarb LG, Navarro C.

Neuromuscul Disord. 2006 Aug;16(8):498-503. Epub 2006 Jun 27.

PMID:
16806931
16.

The biology of desmin filaments: how do mutations affect their structure, assembly, and organisation?

Bär H, Strelkov SV, Sjöberg G, Aebi U, Herrmann H.

J Struct Biol. 2004 Nov;148(2):137-52. Review.

PMID:
15477095
17.

Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations.

Dalakas MC, Dagvadorj A, Goudeau B, Park KY, Takeda K, Simon-Casteras M, Vasconcelos O, Sambuughin N, Shatunov A, Nagle JW, Sivakumar K, Vicart P, Goldfarb LG.

Neuromuscul Disord. 2003 Mar;13(3):252-8.

PMID:
12609507
18.

Abnormal desmin protein in myofibrillar myopathies caused by desmin gene mutations.

Li M, Dalakas MC.

Ann Neurol. 2001 Apr;49(4):532-6.

PMID:
11310634
19.

Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene.

Bergman JE, Veenstra-Knol HE, van Essen AJ, van Ravenswaaij CM, den Dunnen WF, van den Wijngaard A, van Tintelen JP.

Eur J Med Genet. 2007 Sep-Oct;50(5):355-66. Epub 2007 Jul 15.

PMID:
17720647
20.

Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.

Ferreiro A, Ceuterick-de Groote C, Marks JJ, Goemans N, Schreiber G, Hanefeld F, Fardeau M, Martin JJ, Goebel HH, Richard P, Guicheney P, Bönnemann CG.

Ann Neurol. 2004 May;55(5):676-86.

PMID:
15122708

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