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Results: 1 to 20 of 108

Similar articles for PubMed (Select 23109048)

1.

Filamin C-related myopathies: pathology and mechanisms.

Fürst DO, Goldfarb LG, Kley RA, Vorgerd M, Olivé M, van der Ven PF.

Acta Neuropathol. 2013 Jan;125(1):33-46. doi: 10.1007/s00401-012-1054-9. Epub 2012 Oct 30.

PMID:
23109048
2.

Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.

Kley RA, Serdaroglu-Oflazer P, Leber Y, Odgerel Z, van der Ven PF, Olivé M, Ferrer I, Onipe A, Mihaylov M, Bilbao JM, Lee HS, Höhfeld J, Djinović-Carugo K, Kong K, Tegenthoff M, Peters SA, Stenzel W, Vorgerd M, Goldfarb LG, Fürst DO.

Brain. 2012 Sep;135(Pt 9):2642-60. doi: 10.1093/brain/aws200.

3.

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.

Kley RA, Hellenbroich Y, van der Ven PF, Fürst DO, Huebner A, Bruchertseifer V, Peters SA, Heyer CM, Kirschner J, Schröder R, Fischer D, Müller K, Tolksdorf K, Eger K, Germing A, Brodherr T, Reum C, Walter MC, Lochmüller H, Ketelsen UP, Vorgerd M.

Brain. 2007 Dec;130(Pt 12):3250-64. Review.

4.

Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.

Duff RM, Tay V, Hackman P, Ravenscroft G, McLean C, Kennedy P, Steinbach A, Schöffler W, van der Ven PF, Fürst DO, Song J, Djinović-Carugo K, Penttilä S, Raheem O, Reardon K, Malandrini A, Gambelli S, Villanova M, Nowak KJ, Williams DR, Landers JE, Brown RH Jr, Udd B, Laing NG.

Am J Hum Genet. 2011 Jun 10;88(6):729-40. doi: 10.1016/j.ajhg.2011.04.021. Epub 2011 May 27.

5.

Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations.

Kley RA, van der Ven PF, Olivé M, Höhfeld J, Goldfarb LG, Fürst DO, Vorgerd M.

Autophagy. 2013 Mar;9(3):422-3. doi: 10.4161/auto.22921. Epub 2012 Dec 13.

6.

The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy.

Löwe T, Kley RA, van der Ven PF, Himmel M, Huebner A, Vorgerd M, Fürst DO.

Hum Mol Genet. 2007 Jun 1;16(11):1351-8. Epub 2007 Apr 5.

7.

Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency.

Guergueltcheva V, Peeters K, Baets J, Ceuterick-de Groote C, Martin JJ, Suls A, De Vriendt E, Mihaylova V, Chamova T, Almeida-Souza L, Ydens E, Tzekov C, Hadjidekov G, Gospodinova M, Storm K, Reyniers E, Bichev S, van der Ven PF, Fürst DO, Mitev V, Lochmüller H, Timmerman V, Tournev I, De Jonghe P, Jordanova A.

Neurology. 2011 Dec 13;77(24):2105-14. doi: 10.1212/WNL.0b013e31823dc51e. Epub 2011 Nov 30.

PMID:
22131542
8.

A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients.

Kley RA, Maerkens A, Leber Y, Theis V, Schreiner A, van der Ven PF, Uszkoreit J, Stephan C, Eulitz S, Euler N, Kirschner J, Müller K, Meyer HE, Tegenthoff M, Fürst DO, Vorgerd M, Müller T, Marcus K.

Mol Cell Proteomics. 2013 Jan;12(1):215-27. doi: 10.1074/mcp.M112.023176. Epub 2012 Oct 31.

9.

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.

Shatunov A, Olivé M, Odgerel Z, Stadelmann-Nessler C, Irlbacher K, van Landeghem F, Bayarsaikhan M, Lee HS, Goudeau B, Chinnery PF, Straub V, Hilton-Jones D, Damian MS, Kaminska A, Vicart P, Bushby K, Dalakas MC, Sambuughin N, Ferrer I, Goebel HH, Goldfarb LG.

Eur J Hum Genet. 2009 May;17(5):656-63. doi: 10.1038/ejhg.2008.226. Epub 2008 Dec 3.

10.

Myofibrillar myopathies.

Selcen D.

Curr Opin Neurol. 2008 Oct;21(5):585-9. doi: 10.1097/WCO.0b013e32830a752b. Review.

11.

A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.

Vorgerd M, van der Ven PF, Bruchertseifer V, Löwe T, Kley RA, Schröder R, Lochmüller H, Himmel M, Koehler K, Fürst DO, Huebner A.

Am J Hum Genet. 2005 Aug;77(2):297-304. Epub 2005 May 31.

12.

The Z-disk diseases.

Selcen D, Carpén O.

Adv Exp Med Biol. 2008;642:116-30. Review.

PMID:
19181098
13.

Dominant-negative effects of a novel mutation in the filamin myopathy.

Kono S, Nishio T, Takahashi Y, Goto-Inoue N, Kinoshita M, Zaima N, Suzuki H, Fukutoku-Otsuji A, Setou M, Miyajima H.

Neurology. 2010 Aug 10;75(6):547-54. doi: 10.1212/WNL.0b013e3181ec7fbd. Retraction in: Neurology. 2010 Dec 7;75(23):2138.

PMID:
20697107
14.

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.

15.

Myofibrillar myopathies.

Selcen D.

Neuromuscul Disord. 2011 Mar;21(3):161-71. doi: 10.1016/j.nmd.2010.12.007. Epub 2011 Jan 20. Review.

16.

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
17.

Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy.

Maerkens A, Kley RA, Olivé M, Theis V, van der Ven PF, Reimann J, Milting H, Schreiner A, Uszkoreit J, Eisenacher M, Barkovits K, Güttsches AK, Tonillo J, Kuhlmann K, Meyer HE, Schröder R, Tegenthoff M, Fürst DO, Müller T, Goldfarb LG, Vorgerd M, Marcus K.

J Proteomics. 2013 Sep 2;90:14-27. doi: 10.1016/j.jprot.2013.04.026. Epub 2013 Apr 30.

PMID:
23639843
18.

Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy.

Ruparelia AA, Zhao M, Currie PD, Bryson-Richardson RJ.

Hum Mol Genet. 2012 Sep 15;21(18):4073-83. doi: 10.1093/hmg/dds231. Epub 2012 Jun 16.

19.

A novel heterozygous deletion-insertion mutation (2695-2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family.

Luan X, Hong D, Zhang W, Wang Z, Yuan Y.

Neuromuscul Disord. 2010 Jun;20(6):390-6. doi: 10.1016/j.nmd.2010.03.009. Epub 2010 Apr 22.

PMID:
20417099
20.

[Myofibrillar myopathy].

Hayashi YK.

Brain Nerve. 2011 Nov;63(11):1179-88. Review. Japanese.

PMID:
22068470
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