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Items: 1 to 20 of 486

1.

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.

Hum Mutat. 2009 Mar;30(3):E490-9. doi: 10.1002/humu.20941.

PMID:
19105189
2.

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.

3.

Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro.

Bär H, Fischer D, Goudeau B, Kley RA, Clemen CS, Vicart P, Herrmann H, Vorgerd M, Schröder R.

Hum Mol Genet. 2005 May 15;14(10):1251-60. Epub 2005 Mar 30.

PMID:
15800015
4.

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.

Vicart P, Caron A, Guicheney P, Li Z, Prévost MC, Faure A, Chateau D, Chapon F, Tomé F, Dupret JM, Paulin D, Fardeau M.

Nat Genet. 1998 Sep;20(1):92-5.

PMID:
9731540
5.

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
6.

Impact of disease mutations on the desmin filament assembly process.

Bär H, Mücke N, Ringler P, Müller SA, Kreplak L, Katus HA, Aebi U, Herrmann H.

J Mol Biol. 2006 Jul 28;360(5):1031-42. Epub 2006 Jun 16.

PMID:
16828798
7.

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
8.

Patient-specific protein aggregates in myofibrillar myopathies: laser microdissection and differential proteomics for identification of plaque components.

Feldkirchner S, Schessl J, Müller S, Schoser B, Hanisch FG.

Proteomics. 2012 Dec;12(23-24):3598-609. doi: 10.1002/pmic.201100559. Epub 2012 Nov 5.

PMID:
23044792
9.

Gene-related protein surplus myopathies.

Goebel HH, Warlo I.

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

PMID:
11001821
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.

A novel desmin R355P mutation causes cardiac and skeletal myopathy.

Fidziańska A, Kotowicz J, Sadowska M, Goudeau B, Walczak E, Vicart P, Hausmanowa-Petrusewicz I.

Neuromuscul Disord. 2005 Aug;15(8):525-31.

PMID:
16009553
12.

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
13.

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
14.

Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation.

Park KY, Dalakas MC, Semino-Mora C, Lee HS, Litvak S, Takeda K, Ferrans VJ, Goldfarb LG.

Clin Genet. 2000 Jun;57(6):423-9.

PMID:
10905661
15.

[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
16.

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.

J Struct Biol. 2007 Apr;158(1):107-15. Epub 2006 Nov 10.

PMID:
17188893
17.

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.

Hum Mutat. 2007 Apr;28(4):374-86.

PMID:
17221859
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.

Different early pathogenesis in myotilinopathy compared to primary desminopathy.

Fischer D, Clemen CS, Olivé M, Ferrer I, Goudeau B, Roth U, Badorf P, Wattjes MP, Lutterbey G, Kral T, van der Ven PF, Fürst DO, Vicart P, Goldfarb LG, Moza M, Carpen O, Reichelt J, Schröder R.

Neuromuscul Disord. 2006 Jun;16(6):361-7. Epub 2006 May 8.

PMID:
16684602
20.

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

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