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Items: 1 to 20 of 30

1.
2.

Neuromuscular disorders: genes, genetic counseling and therapeutic trials.

Zatz M, Passos-Bueno MR, Vainzof M.

Genet Mol Biol. 2016 Jul-Sep;39(3):339-48. doi: 10.1590/1678-4685-GMB-2016-0019.

3.

Expression of myotilin during chicken development.

Dube DK, Wang J, Pellenz C, Fan Y, Dube S, Han M, Linask K, Sanger JM, Sanger JW.

Anat Rec (Hoboken). 2014 Sep;297(9):1596-603. doi: 10.1002/ar.22964.

4.

Circadian regulation of myocardial sarcomeric Titin-cap (Tcap, telethonin): identification of cardiac clock-controlled genes using open access bioinformatics data.

Podobed PS, Alibhai FJ, Chow CW, Martino TA.

PLoS One. 2014 Aug 14;9(8):e104907. doi: 10.1371/journal.pone.0104907. eCollection 2014.

5.

Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G.

Francis A, Sunitha B, Vinodh K, Polavarapu K, Katkam SK, Modi S, Bharath MM, Gayathri N, Nalini A, Thangaraj K.

PLoS One. 2014 Jul 23;9(7):e102763. doi: 10.1371/journal.pone.0102763. eCollection 2014.

6.

Phosphoregulation of the titin-cap protein telethonin in cardiac myocytes.

Candasamy AJ, Haworth RS, Cuello F, Ibrahim M, Aravamudhan S, Krüger M, Holt MR, Terracciano CM, Mayr M, Gautel M, Avkiran M.

J Biol Chem. 2014 Jan 17;289(3):1282-93. doi: 10.1074/jbc.M113.479030. Epub 2013 Nov 26.

7.

A critical role for Telethonin in regulating t-tubule structure and function in the mammalian heart.

Ibrahim M, Siedlecka U, Buyandelger B, Harada M, Rao C, Moshkov A, Bhargava A, Schneider M, Yacoub MH, Gorelik J, Knöll R, Terracciano CM.

Hum Mol Genet. 2013 Jan 15;22(2):372-83. doi: 10.1093/hmg/dds434. Epub 2012 Oct 25.

8.

Voltage-gated sodium channels: biophysics, pharmacology, and related channelopathies.

Savio-Galimberti E, Gollob MH, Darbar D.

Front Pharmacol. 2012 Jul 11;3:124. doi: 10.3389/fphar.2012.00124. eCollection 2012.

9.
10.

A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients.

Waddell LB, Tran J, Zheng XF, Bönnemann CG, Hu Y, Evesson FJ, Lek M, Arbuckle S, Wang MX, Smith RL, North KN, Clarke NF.

Neuromuscul Disord. 2011 Nov;21(11):776-81. doi: 10.1016/j.nmd.2011.05.007. Epub 2011 Jun 17.

11.

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.

Magri F, Del Bo R, D'Angelo MG, Govoni A, Ghezzi S, Gandossini S, Sciacco M, Ciscato P, Bordoni A, Tedeschi S, Fortunato F, Lucchini V, Cereda M, Corti S, Moggio M, Bresolin N, Comi GP.

BMC Med Genet. 2011 Mar 11;12:37. doi: 10.1186/1471-2350-12-37.

12.

Transcriptional analysis of the titin cap gene.

Zhang S, Londhe P, Zhang M, Davie JK.

Mol Genet Genomics. 2011 Mar;285(3):261-72. doi: 10.1007/s00438-011-0603-6. Epub 2011 Feb 9.

13.

Imaging phenotype vs genotype in nonhypertrophic heritable cardiomyopathies: dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy.

Raman SV, Basso C, Tandri H, Taylor MR.

Circ Cardiovasc Imaging. 2010 Nov;3(6):753-65. doi: 10.1161/CIRCIMAGING.110.957563. Review. No abstract available.

14.

Dynamic strength of titin's Z-disk end.

Kollár V, Szatmári D, Grama L, Kellermayer MS.

J Biomed Biotechnol. 2010;2010:838530. doi: 10.1155/2010/838530. Epub 2010 Apr 19.

15.

Functional muscle analysis of the Tcap knockout mouse.

Markert CD, Meaney MP, Voelker KA, Grange RW, Dalley HW, Cann JK, Ahmed M, Bishwokarma B, Walker SJ, Yu SX, Brown M, Lawlor MW, Beggs AH, Childers MK.

Hum Mol Genet. 2010 Jun 1;19(11):2268-83. doi: 10.1093/hmg/ddq105. Epub 2010 Mar 16.

16.

Genomic profiling of messenger RNAs and microRNAs reveals potential mechanisms of TWEAK-induced skeletal muscle wasting in mice.

Panguluri SK, Bhatnagar S, Kumar A, McCarthy JJ, Srivastava AK, Cooper NG, Lundy RF, Kumar A.

PLoS One. 2010 Jan 19;5(1):e8760. doi: 10.1371/journal.pone.0008760.

17.

Muscle giants: molecular scaffolds in sarcomerogenesis.

Kontrogianni-Konstantopoulos A, Ackermann MA, Bowman AL, Yap SV, Bloch RJ.

Physiol Rev. 2009 Oct;89(4):1217-67. doi: 10.1152/physrev.00017.2009. Review.

18.

Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere-membrane interaction, not sarcomere assembly.

Zhang R, Yang J, Zhu J, Xu X.

Hum Mol Genet. 2009 Nov 1;18(21):4130-40. doi: 10.1093/hmg/ddp362. Epub 2009 Aug 12.

19.

Cytoplasmic Ig-domain proteins: cytoskeletal regulators with a role in human disease.

Otey CA, Dixon R, Stack C, Goicoechea SM.

Cell Motil Cytoskeleton. 2009 Aug;66(8):618-34. doi: 10.1002/cm.20385. Review.

20.

Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient.

Olivé M, Shatunov A, Gonzalez L, Carmona O, Moreno D, Quereda LG, Martinez-Matos JA, Goldfarb LG, Ferrer I.

Neuromuscul Disord. 2008 Dec;18(12):929-33. doi: 10.1016/j.nmd.2008.07.009. Epub 2008 Oct 22.

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