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Items: 1 to 20 of 25

1.

Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy.

Wattanasirichaigoon D, Swoboda KJ, Takada F, Tong HQ, Lip V, Iannaccone ST, Wallgren-Pettersson C, Laing NG, Beggs AH.

Neurology. 2002 Aug 27;59(4):613-7.

PMID:
12196661
2.

Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments.

Sanoudou D, Beggs AH.

Trends Mol Med. 2001 Aug;7(8):362-8. Review.

PMID:
11516997
3.
4.

Cardiac and skeletal myopathies: can genotype explain phenotype?

Marston SB, Hodgkinson JL.

J Muscle Res Cell Motil. 2001;22(1):1-4. Review.

PMID:
11563546
5.

Congenital myopathies: diseases of the actin cytoskeleton.

Clarkson E, Costa CF, Machesky LM.

J Pathol. 2004 Nov;204(4):407-17. Review.

PMID:
15495263
6.

Novel TPM3 mutation in a family with cap myopathy and review of the literature.

Schreckenbach T, Schröder JM, Voit T, Abicht A, Neuen-Jacob E, Roos A, Bulst S, Kuhl C, Schulz JB, Weis J, Claeys KG.

Neuromuscul Disord. 2014 Feb;24(2):117-24. doi: 10.1016/j.nmd.2013.10.002. Epub 2013 Oct 23. Review.

PMID:
24239060
7.

Nemaline myopathy: a clinical study of 143 cases.

Ryan MM, Schnell C, Strickland CD, Shield LK, Morgan G, Iannaccone ST, Laing NG, Beggs AH, North KN.

Ann Neurol. 2001 Sep;50(3):312-20. Review.

PMID:
11558787
8.

Nemaline myopathies.

Wallgren-Pettersson C, Sewry CA, Nowak KJ, Laing NG.

Semin Pediatr Neurol. 2011 Dec;18(4):230-8. doi: 10.1016/j.spen.2011.10.004. Review.

PMID:
22172418
9.

[Severe infantile nemaline myopathy].

Miike T.

Ryoikibetsu Shokogun Shirizu. 2001;(35):398-401. Review. Japanese. No abstract available.

PMID:
11555968
10.

Myopathies associated with β-tropomyosin mutations.

Tajsharghi H, Ohlsson M, Palm L, Oldfors A.

Neuromuscul Disord. 2012 Nov;22(11):923-33. doi: 10.1016/j.nmd.2012.05.018. Epub 2012 Jun 29. Review.

PMID:
22749895
11.

[Congenital mild nemaline myopathy].

Miike T.

Ryoikibetsu Shokogun Shirizu. 2001;(35):402-5. Review. Japanese. No abstract available.

PMID:
11555969
12.

HIV-associated nemaline rod myopathy: role of intravenous immunoglobulin therapy in two persons with HIV/AIDS.

de Sanctis JT, Cumbo-Nacheli G, Dobbie D, Baumgartner D.

AIDS Read. 2008 Feb;18(2):90-4. Review.

PMID:
18330038
13.

Recent advances in nemaline myopathy.

Romero NB, Sandaradura SA, Clarke NF.

Curr Opin Neurol. 2013 Oct;26(5):519-26. doi: 10.1097/WCO.0b013e328364d681. Review.

PMID:
23995272
14.

[Adult-onset nemaline myopathy with distal muscle atrophy--case report].

Niwa F, Shiga K, Kimura M, Yamaguchi T, Kondo M, Nakagawa M.

Brain Nerve. 2009 Jun;61(6):695-9. Review. Japanese.

PMID:
19526838
15.

[Adult onset nemaline myopathy and monoclonal gammopathy].

Nakagawa M, Hirata K.

Ryoikibetsu Shokogun Shirizu. 2001;(35):406-13. Review. Japanese. No abstract available.

PMID:
11555970
16.

Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy.

North KN, Laing NG, Wallgren-Pettersson C.

J Med Genet. 1997 Sep;34(9):705-13. Review. No abstract available. Erratum in: J Med Genet 1997 Oct;34(10):879.

17.

The de novo missense mutation N117S in skeletal muscle α‑actin 1 causes a mild form of congenital nemaline myopathy.

Yang L, Yu P, Chen X, Cai T.

Mol Med Rep. 2016 Aug;14(2):1693-6. doi: 10.3892/mmr.2016.5429. Epub 2016 Jun 23. Review.

PMID:
27357517
18.

Clinical approach to the diagnosis of congenital myopathies.

North KN.

Semin Pediatr Neurol. 2011 Dec;18(4):216-20. doi: 10.1016/j.spen.2011.10.002. Review.

PMID:
22172416
19.

Tropomyosins in skeletal muscle diseases.

Kee AJ, Hardeman EC.

Adv Exp Med Biol. 2008;644:143-57. Review.

PMID:
19209820
20.

Nemaline cardiomyopathy in a young adult: an ultraimmunohistochemical study and review of the literature.

Müller-Höcker J, Schäfer S, Mendel B, Lochmüller H, Pongratz D.

Ultrastruct Pathol. 2000 Nov-Dec;24(6):407-16. Review.

PMID:
11206338

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