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Items: 1 to 20 of 47

1.

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
2.

Gene-related protein surplus myopathies.

Goebel HH, Warlo I.

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

PMID:
11001821
3.

Desminopathies in muscle disease.

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

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

PMID:
15495235
4.

[Genetics of dilated cardiomyopathy].

Osterziel KJ, Scheffold T, Perrot A, Dietz R; Netzwerk Myokardiale Erkrankungen.

Z Kardiol. 2001 Jul;90(7):461-9. Review. German.

PMID:
11515275
5.

[Myofibrillar myopathy].

Hayashi YK.

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

PMID:
22068470
6.

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.

PMID:
18055494
7.

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
8.

Desmin filaments and cardiac disease: establishing causality.

Wang X, Osinska H, Gerdes AM, Robbins J.

J Card Fail. 2002 Dec;8(6 Suppl):S287-92. Review.

PMID:
12555134
9.

Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

Sparrow JC, Nowak KJ, Durling HJ, Beggs AH, Wallgren-Pettersson C, Romero N, Nonaka I, Laing NG.

Neuromuscul Disord. 2003 Sep;13(7-8):519-31. Review.

PMID:
12921789
10.

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
11.

Desmin-related myopathy.

van Spaendonck-Zwarts KY, van Hessem L, Jongbloed JD, de Walle HE, Capetanaki Y, van der Kooi AJ, van Langen IM, van den Berg MP, van Tintelen JP.

Clin Genet. 2011 Oct;80(4):354-66. doi: 10.1111/j.1399-0004.2010.01512.x. Epub 2010 Jul 21. Review.

PMID:
20718792
12.

Distal myopathies.

Illa I.

J Neurol. 2000 Mar;247(3):169-74. Review.

PMID:
10787109
13.

Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.

Goldfarb LG, Dalakas MC.

J Clin Invest. 2009 Jul;119(7):1806-13. doi: 10.1172/JCI38027. Epub 2009 Jul 1. Review. Erratum in: J Clin Invest. 2011 Jan 4;121(1):455.

14.

Hereditary myosin myopathies.

Oldfors A.

Neuromuscul Disord. 2007 May;17(5):355-67. Epub 2007 Apr 16. Review.

PMID:
17434305
15.

[Myofibrillar myopathies].

Olivé-Plana M.

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

16.

Genetics of crystallins: cataract and beyond.

Graw J.

Exp Eye Res. 2009 Feb;88(2):173-89. doi: 10.1016/j.exer.2008.10.011. Epub 2008 Nov 1. Review.

PMID:
19007775
17.

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
18.

Desmin-related neuromuscular disorders.

Goebel HH.

Muscle Nerve. 1995 Nov;18(11):1306-20. Review.

PMID:
7565929
19.

Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.

Avila-Smirnow D, Gueneau L, Batonnet-Pichon S, Delort F, Bécane HM, Claeys K, Beuvin M, Goudeau B, Jais JP, Nelson I, Richard P, Ben Yaou R, Romero NB, Wahbi K, Mathis S, Voit T, Furst D, van der Ven P, Gil R, Vicart P, Fardeau M, Bonne G, Behin A.

Rev Neurol (Paris). 2016 Oct;172(10):594-606. doi: 10.1016/j.neurol.2016.07.017. Epub 2016 Sep 12. Review.

PMID:
27633507
20.

Desmin-related myopathies in mice and man.

Carlsson L, Thornell LE.

Acta Physiol Scand. 2001 Mar;171(3):341-8. Review.

PMID:
11412147

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