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Items: 1 to 20 of 337

1.

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.

2.

Structural and functional analysis of a new desmin variant causing desmin-related myopathy.

Goudeau B, Dagvadorj A, Rodrigues-Lima F, Nédellec P, Casteras-Simon M, Perret E, Langlois S, Goldfarb L, Vicart P.

Hum Mutat. 2001 Nov;18(5):388-96.

PMID:
11668632
3.

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
4.

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
5.

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.

PMID:
17720647
6.

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.

Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Müller CR, Nürnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG.

Nat Genet. 1999 Oct;23(2):208-12.

PMID:
10508519
7.

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.

Nat Genet. 1998 Aug;19(4):402-3.

PMID:
9697706
8.

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.

PMID:
16828798
9.

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
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.

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

PMID:
19105189
11.

Desmin myopathy.

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

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

12.

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.

J Neurol. 2004 Feb;251(2):143-9.

PMID:
14991347
13.

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.

14.

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.

15.

[Myofibrillar myopathies].

Olivé-Plana M.

Rev Neurol. 2003 Oct 16-31;37(8):770-2. Review. Spanish.

16.

Mutations in myotilin cause myofibrillar myopathy.

Selcen D, Engel AG.

Neurology. 2004 Apr 27;62(8):1363-71. Erratum in: Neurology. 2004 Jul 27;63(2):405.

PMID:
15111675
17.

[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
18.

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

Selcen D, Ohno K, Engel AG.

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

19.

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.

Hum Genet. 2004 Feb;114(3):306-13.

PMID:
14648196
20.

Myofibrillar (desmin-related) myopathy: clinico-pathological spectrum in 3 cases and review of the literature.

Wanschit J, Nakano S, Goudeau B, Ströbel T, Rinner W, Wimmer G, Resch H, Jaksch M, Akiguchi I, Vicart P, Budka H.

Clin Neuropathol. 2002 Sep-Oct;21(5):220-31. Review.

PMID:
12365725
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