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Items: 1 to 20 of 101

1.

Functional Characterization of the Intact Diaphragm in a Nebulin-Based Nemaline Myopathy (NM) Model-Effects of the Fast Skeletal Muscle Troponin Activator tirasemtiv.

Lee EJ, Kolb J, Hwee DT, Malik FI, Granzier HL.

Int J Mol Sci. 2019 Oct 10;20(20). pii: E5008. doi: 10.3390/ijms20205008.

2.

Muscle weakness in respiratory and peripheral skeletal muscles in a mouse model for nebulin-based nemaline myopathy.

Joureau B, de Winter JM, Stam K, Granzier H, Ottenheijm CA.

Neuromuscul Disord. 2017 Jan;27(1):83-89. doi: 10.1016/j.nmd.2016.10.004. Epub 2016 Oct 25.

PMID:
27890461
3.

Omecamtiv mecarbil lowers the contractile deficit in a mouse model of nebulin-based nemaline myopathy.

Lindqvist J, Lee EJ, Karimi E, Kolb J, Granzier H.

PLoS One. 2019 Nov 13;14(11):e0224467. doi: 10.1371/journal.pone.0224467. eCollection 2019.

4.

Fast skeletal muscle troponin activation increases force of mouse fast skeletal muscle and ameliorates weakness due to nebulin-deficiency.

Lee EJ, De Winter JM, Buck D, Jasper JR, Malik FI, Labeit S, Ottenheijm CA, Granzier H.

PLoS One. 2013;8(2):e55861. doi: 10.1371/journal.pone.0055861. Epub 2013 Feb 20.

5.

Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations.

de Winter JM, Buck D, Hidalgo C, Jasper JR, Malik FI, Clarke NF, Stienen GJ, Lawlor MW, Beggs AH, Ottenheijm CA, Granzier H.

J Med Genet. 2013 Jun;50(6):383-92. doi: 10.1136/jmedgenet-2012-101470. Epub 2013 Apr 9.

6.

Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy.

Li F, Buck D, De Winter J, Kolb J, Meng H, Birch C, Slater R, Escobar YN, Smith JE 3rd, Yang L, Konhilas J, Lawlor MW, Ottenheijm C, Granzier HL.

Hum Mol Genet. 2015 Sep 15;24(18):5219-33. doi: 10.1093/hmg/ddv243. Epub 2015 Jun 29.

7.

Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy.

Ottenheijm CA, Buck D, de Winter JM, Ferrara C, Piroddi N, Tesi C, Jasper JR, Malik FI, Meng H, Stienen GJ, Beggs AH, Labeit S, Poggesi C, Lawlor MW, Granzier H.

Brain. 2013 Jun;136(Pt 6):1718-31. doi: 10.1093/brain/awt113. Epub 2013 May 28.

8.

Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene.

de Winter JM, Joureau B, Sequeira V, Clarke NF, van der Velden J, Stienen GJ, Granzier H, Beggs AH, Ottenheijm CA.

Skelet Muscle. 2015 Apr 28;5:12. doi: 10.1186/s13395-015-0037-7. eCollection 2015.

9.

Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency.

Ottenheijm CA, Witt CC, Stienen GJ, Labeit S, Beggs AH, Granzier H.

Hum Mol Genet. 2009 Jul 1;18(13):2359-69. doi: 10.1093/hmg/ddp168. Epub 2009 Apr 4.

10.

Nebulin stiffens the thin filament and augments cross-bridge interaction in skeletal muscle.

Kiss B, Lee EJ, Ma W, Li FW, Tonino P, Mijailovich SM, Irving TC, Granzier HL.

Proc Natl Acad Sci U S A. 2018 Oct 9;115(41):10369-10374. doi: 10.1073/pnas.1804726115. Epub 2018 Sep 24.

11.

Neb: a zebrafish model of nemaline myopathy due to nebulin mutation.

Telfer WR, Nelson DD, Waugh T, Brooks SV, Dowling JJ.

Dis Model Mech. 2012 May;5(3):389-96. doi: 10.1242/dmm.008631. Epub 2011 Dec 12.

12.

Reduced thin filament length in nebulin-knockout skeletal muscle alters isometric contractile properties.

Gokhin DS, Bang ML, Zhang J, Chen J, Lieber RL.

Am J Physiol Cell Physiol. 2009 May;296(5):C1123-32. doi: 10.1152/ajpcell.00503.2008. Epub 2009 Mar 18.

13.

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy.

Lawlor MW, Ottenheijm CA, Lehtokari VL, Cho K, Pelin K, Wallgren-Pettersson C, Granzier H, Beggs AH.

Skelet Muscle. 2011 Jun 20;1(1):23. doi: 10.1186/2044-5040-1-23.

14.

Fast skeletal muscle troponin activator tirasemtiv increases muscle function and performance in the B6SJL-SOD1G93A ALS mouse model.

Hwee DT, Kennedy A, Ryans J, Russell AJ, Jia Z, Hinken AC, Morgans DJ, Malik FI, Jasper JR.

PLoS One. 2014 May 7;9(5):e96921. doi: 10.1371/journal.pone.0096921. eCollection 2014.

15.

The nebulin SH3 domain is dispensable for normal skeletal muscle structure but is required for effective active load bearing in mouse.

Yamamoto DL, Vitiello C, Zhang J, Gokhin DS, Castaldi A, Coulis G, Piaser F, Filomena MC, Eggenhuizen PJ, Kunderfranco P, Camerini S, Takano K, Endo T, Crescenzi M, Luther PK, Lieber RL, Chen J, Bang ML.

J Cell Sci. 2013 Dec 1;126(Pt 23):5477-89. doi: 10.1242/jcs.137026. Epub 2013 Sep 17.

16.

Nebulin alters cross-bridge cycling kinetics and increases thin filament activation: a novel mechanism for increasing tension and reducing tension cost.

Chandra M, Mamidi R, Ford S, Hidalgo C, Witt C, Ottenheijm C, Labeit S, Granzier H.

J Biol Chem. 2009 Nov 6;284(45):30889-96. doi: 10.1074/jbc.M109.049718. Epub 2009 Sep 7.

17.

Tirasemtiv amplifies skeletal muscle response to nerve activation in humans.

Hansen R, Saikali KG, Chou W, Russell AJ, Chen MM, Vijayakumar V, Stoltz RR, Baudry S, Enoka RM, Morgans DJ, Wolff AA, Malik FI.

Muscle Nerve. 2014 Dec;50(6):925-31. doi: 10.1002/mus.24239.

18.

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene.

Kiiski KJ, Lehtokari VL, Vihola AK, Laitila JM, Huovinen S, Sagath LJ, Evilä AE, Paetau AE, Sewry CA, Hackman PB, Pelin KB, Wallgren-Pettersson C, Udd B.

Neuromuscul Disord. 2019 Feb;29(2):97-107. doi: 10.1016/j.nmd.2018.12.007. Epub 2018 Dec 20.

PMID:
30679003
19.

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.

Malfatti E, Lehtokari VL, Böhm J, De Winter JM, Schäffer U, Estournet B, Quijano-Roy S, Monges S, Lubieniecki F, Bellance R, Viou MT, Madelaine A, Wu B, Taratuto AL, Eymard B, Pelin K, Fardeau M, Ottenheijm CA, Wallgren-Pettersson C, Laporte J, Romero NB.

Acta Neuropathol Commun. 2014 Apr 12;2:44. doi: 10.1186/2051-5960-2-44.

20.

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