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Results: 1 to 20 of 382

1.

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 Jun 29. pii: ddv243. [Epub ahead of print]

PMID:
26123491
2.

Leiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophy.

Tian L, Ding S, You Y, Li TR, Liu Y, Wu X, Sun L, Xu T.

Dis Model Mech. 2015 Jun 1;8(6):635-41. doi: 10.1242/dmm.019430. Epub 2015 Apr 16.

3.

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.

4.

Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function.

Sztal TE, Zhao M, Williams C, Oorschot V, Parslow AC, Giousoh A, Yuen M, Hall TE, Costin A, Ramm G, Bird PI, Busch-Nentwich EM, Stemple DL, Currie PD, Cooper ST, Laing NG, Nowak KJ, Bryson-Richardson RJ.

Acta Neuropathol. 2015 May 1. [Epub ahead of print]

PMID:
25931053
5.

Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature.

Waisayarat J, Suriyonplengsaeng C, Khongkhatithum C, Rochanawutanon M.

Diagn Pathol. 2015 Apr 16;10:27. doi: 10.1186/s13000-015-0270-8.

6.

Sudden cardiac arrest in a child with nemaline myopathy.

Marseglia L, D'Angelo G, Manti S, Salpietro V, Arrigo T, Cavallari V, Gitto E.

Ital J Pediatr. 2015 Mar 21;41:20. doi: 10.1186/s13052-015-0124-8.

7.

Two novel nebulin variants in an adult patient with congenital nemaline myopathy.

Güttsches AK, Dekomien G, Claeys KG, von der Hagen M, Huebner A, Kley RA, Kirschner J, Vorgerd M.

Neuromuscul Disord. 2015 May;25(5):392-6. doi: 10.1016/j.nmd.2015.01.013. Epub 2015 Feb 3.

PMID:
25740301
8.

Nemaline myopathy with KLHL40 mutation presenting as congenital totally locked-in state.

Kawase K, Nishino I, Sugimoto M, Togawa T, Sugiura T, Kouwaki M, Kibe T, Koyama N, Yokochi K.

Brain Dev. 2015 Feb 23. pii: S0387-7604(15)00027-3. doi: 10.1016/j.braindev.2015.02.002. [Epub ahead of print]

PMID:
25721947
9.

Clinical utility gene card for: Nemaline myopathy.

Nowak KJ, Davis MR, Wallgren-Pettersson C, Lamont PJ, Laing NG.

Eur J Hum Genet. 2015 Feb 25. doi: 10.1038/ejhg.2015.12. [Epub ahead of print] No abstract available.

PMID:
25712079
10.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF.

J Clin Invest. 2015 Jan;125(1):456-7. doi: 10.1172/JCI80057. Epub 2015 Jan 2. No abstract available.

11.

Nemaline myopathy and heart failure: role of ivabradine; a case report.

Sarullo FM, Vitale G, Di Franco A, Sarullo S, Salerno Y, Vassallo L, Baviera EP, Marazia S, Mandalà G, Lanza GA.

BMC Cardiovasc Disord. 2015 Jan 19;15:5. doi: 10.1186/1471-2261-15-5.

12.

Sporadic late-onset nemaline myopathy in a woman with multiple myeloma successfully treated with lenalidomide/dexamethasone.

Montagnese F, Portaro S, Musumeci O, Migliorato A, Moggio M, Fagiolari G, Rodolico C.

Muscle Nerve. 2015 Jun;51(6):934-5. doi: 10.1002/mus.24545. Epub 2015 Jan 5. No abstract available.

PMID:
25524603
13.

Identification of a novel nemaline myopathy-Causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order amish.

Marra JD, Engelstad KE, Ankala A, Tanji K, Dastgir J, De Vivo DC, Coffee B, Chiriboga CA.

Muscle Nerve. 2015 May;51(5):767-72. doi: 10.1002/mus.24528. Epub 2015 Feb 17.

PMID:
25430424
14.

Sporadic late-onset nemaline myopathy as a rare cause of slowly progressive muscle weakness with young adult onset.

Maeda MH, Ohta H, Izutsu K, Shimizu J, Uesaka Y.

Muscle Nerve. 2015 May;51(5):772-4. doi: 10.1002/mus.24509. Epub 2015 Jan 16.

PMID:
25381859
15.

Sporadic late-onset nemaline myopathy with MGUS: long-term follow-up after melphalan and SCT.

Voermans NC, Benveniste O, Minnema MC, Lokhorst H, Lammens M, Meersseman W, Delforge M, Kuntzer T, Novy J, Pabst T, Bouhour F, Romero N, Leblond V, Bergh Pv, Vekemans MC, van Engelen BG, Eymard B.

Neurology. 2014 Dec 2;83(23):2133-9. doi: 10.1212/WNL.0000000000001047. Epub 2014 Nov 5.

PMID:
25378674
16.

Loss of Tropomodulin4 in the zebrafish mutant träge causes cytoplasmic rod formation and muscle weakness reminiscent of nemaline myopathy.

Berger J, Tarakci H, Berger S, Li M, Hall TE, Arner A, Currie PD.

Dis Model Mech. 2014 Dec;7(12):1407-15. doi: 10.1242/dmm.017376. Epub 2014 Oct 2.

17.

Alterations at the cross-bridge level are associated with a paradoxical gain of muscle function in vivo in a mouse model of nemaline myopathy.

Gineste C, Ottenheijm C, Le Fur Y, Banzet S, Pecchi E, Vilmen C, Cozzone PJ, Koulmann N, Hardeman EC, Bendahan D, Gondin J.

PLoS One. 2014 Sep 30;9(9):e109066. doi: 10.1371/journal.pone.0109066. eCollection 2014.

18.

Sexually dimorphic myofilament function in a mouse model of nemaline myopathy.

Lindqvist J, Hardeman EC, Ochala J.

Arch Biochem Biophys. 2014 Dec 15;564:37-42. doi: 10.1016/j.abb.2014.09.011. Epub 2014 Sep 24.

PMID:
25261348
19.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF.

J Clin Invest. 2014 Nov;124(11):4693-708. doi: 10.1172/JCI75199. Epub 2014 Sep 24. Erratum in: J Clin Invest. 2015 Jan;125(1):456-7.

20.

Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy.

Castiglioni C, Cassandrini D, Fattori F, Bellacchio E, D'Amico A, Alvarez K, Gejman R, Diaz J, Santorelli FM, Romero NB, Bertini E, Bevilacqua JA.

Muscle Nerve. 2014 Dec;50(6):1011-6. doi: 10.1002/mus.24353. Epub 2014 Oct 30.

PMID:
25088345
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