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Items: 1 to 20 of 131

1.

Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.

Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad M.

Am J Hum Genet. 2003 Mar;72(3):681-90.

2.

A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression.

Jiang M, Zhao X, Han W, Bian C, Li X, Wang G, Ao Y, Li Y, Yi D, Zhe Y, Lo WH, Zhang X, Li J.

Hum Genet. 2006 Sep;120(2):238-42. Epub 2006 Jun 27.

PMID:
16802141
3.

Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function.

Robinson P, Lipscomb S, Preston LC, Altin E, Watkins H, Ashley CC, Redwood CS.

FASEB J. 2007 Mar;21(3):896-905. Epub 2006 Dec 27.

4.

Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.

Beck AE, McMillin MJ, Gildersleeve HI, Kezele PR, Shively KM, Carey JC, Regnier M, Bamshad MJ.

Am J Med Genet A. 2013 Mar;161A(3):550-5. doi: 10.1002/ajmg.a.35809. Epub 2013 Feb 7.

5.

A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures.

Li X, Jiang M, Han W, Zhao N, Liu W, Sui Y, Lu Y, Li J.

Gene. 2013 Sep 25;527(2):630-5. doi: 10.1016/j.gene.2013.06.082. Epub 2013 Jul 11.

PMID:
23850728
6.

Fine mapping of five human skeletal muscle genes: alpha-tropomyosin, beta-tropomyosin, troponin-I slow-twitch, troponin-I fast-twitch, and troponin-C fast.

Tiso N, Rampoldi L, Pallavicini A, Zimbello R, Pandolfo D, Valle G, Lanfranchi G, Danieli GA.

Biochem Biophys Res Commun. 1997 Jan 13;230(2):347-50.

PMID:
9016781
7.

Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B.

Jiang M, Bian C, Li X, Man X, Ge W, Han W, Bao H, Li Y, Yi D, Guan Y, Li J.

Prenat Diagn. 2007 May;27(5):468-70.

PMID:
17380469
8.

A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis.

Kimber E, Tajsharghi H, Kroksmark AK, Oldfors A, Tulinius M.

Neurology. 2006 Aug 22;67(4):597-601.

PMID:
16924011
9.
10.

Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.

Gurnett CA, Alaee F, Desruisseau D, Boehm S, Dobbs MB.

Clin Orthop Relat Res. 2009 May;467(5):1195-200. doi: 10.1007/s11999-008-0694-5. Epub 2009 Jan 14.

11.

Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation.

Tajsharghi H, Kimber E, Holmgren D, Tulinius M, Oldfors A.

Neurology. 2007 Mar 6;68(10):772-5.

PMID:
17339586
12.

A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus.

Zhao N, Jiang M, Han W, Bian C, Li X, Huang F, Kong Q, Li J.

Eur J Med Genet. 2011 May-Jun;54(3):351-3. doi: 10.1016/j.ejmg.2011.03.002. Epub 2011 Mar 12.

PMID:
21402185
13.
14.

A TNNI2 mutation in a family with distal arthrogryposis type 2B.

Shrimpton AE, Hoo JJ.

Eur J Med Genet. 2006 Mar-Apr;49(2):201-6. Epub 2005 Jul 11.

PMID:
16497570
15.

Tropomyosins in skeletal muscle diseases.

Kee AJ, Hardeman EC.

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

PMID:
19209820
16.

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy.

Donner K, Ollikainen M, Ridanpää M, Christen HJ, Goebel HH, de Visser M, Pelin K, Wallgren-Pettersson C.

Neuromuscul Disord. 2002 Feb;12(2):151-8.

PMID:
11738357
17.

Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis.

Attali R, Warwar N, Israel A, Gurt I, McNally E, Puckelwartz M, Glick B, Nevo Y, Ben-Neriah Z, Melki J.

Hum Mol Genet. 2009 Sep 15;18(18):3462-9. doi: 10.1093/hmg/ddp290. Epub 2009 Jun 19.

18.

A new distal arthrogryposis syndrome characterized by plantar flexion contractures.

Stevenson DA, Swoboda KJ, Sanders RK, Bamshad M.

Am J Med Genet A. 2006 Dec 15;140(24):2797-801.

19.

Drosophila melanogaster troponin-T mutations engender three distinct syndromes of myofibrillar abnormalities.

Fyrberg E, Fyrberg CC, Beall C, Saville DL.

J Mol Biol. 1990 Dec 5;216(3):657-75.

PMID:
2124273
20.

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.

Mokbel N, Ilkovski B, Kreissl M, Memo M, Jeffries CM, Marttila M, Lehtokari VL, Lemola E, Grönholm M, Yang N, Menard D, Marcorelles P, Echaniz-Laguna A, Reimann J, Vainzof M, Monnier N, Ravenscroft G, McNamara E, Nowak KJ, Laing NG, Wallgren-Pettersson C, Trewhella J, Marston S, Ottenheijm C, North KN, Clarke NF.

Brain. 2013 Feb;136(Pt 2):494-507. doi: 10.1093/brain/aws348. Epub 2013 Jan 31.

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