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Items: 1 to 20 of 105

1.

Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).

Joureau B, de Winter JM, Conijn S, Bogaards SJP, Kovacevic I, Kalganov A, Persson M, Lindqvist J, Stienen GJM, Irving TC, Ma W, Yuen M, Clarke NF, Rassier DE, Malfatti E, Romero NB, Beggs AH, Ottenheijm CAC.

Ann Neurol. 2018 Feb;83(2):269-282. doi: 10.1002/ana.25144. Epub 2018 Feb 6.

2.

The pathogenesis of ACTA1-related congenital fiber type disproportion.

Clarke NF, Ilkovski B, Cooper S, Valova VA, Robinson PJ, Nonaka I, Feng JJ, Marston S, North K.

Ann Neurol. 2007 Jun;61(6):552-61.

PMID:
17387733
3.

Mutation-specific effects on thin filament length in thin filament myopathy.

Winter JM, Joureau B, Lee EJ, Kiss B, Yuen M, Gupta VA, Pappas CT, Gregorio CC, Stienen GJ, Edvardson S, Wallgren-Pettersson C, Lehtokari VL, Pelin K, Malfatti E, Romero NB, Engelen BG, Voermans NC, Donkervoort S, Bönnemann CG, Clarke NF, Beggs AH, Granzier H, Ottenheijm CA.

Ann Neurol. 2016 Jun;79(6):959-69. doi: 10.1002/ana.24654. Epub 2016 Apr 30.

4.

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.

5.

Distinct underlying mechanisms of limb and respiratory muscle fiber weaknesses in nemaline myopathy.

Lindqvist J, Cheng AJ, Renaud G, Hardeman EC, Ochala J.

J Neuropathol Exp Neurol. 2013 Jun;72(6):472-81. doi: 10.1097/NEN.0b013e318293b1cc.

PMID:
23656990
6.

Nemaline myopathy-related skeletal muscle α-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness.

Ochala J, Ravenscroft G, Laing NG, Nowak KJ.

PLoS One. 2012;7(9):e45923. doi: 10.1371/journal.pone.0045923. Epub 2012 Sep 20.

7.

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 Sep;130(3):389-406. doi: 10.1007/s00401-015-1430-3. Epub 2015 May 1.

8.

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.

9.

Multimodal MRI and (31)P-MRS investigations of the ACTA1(Asp286Gly) mouse model of nemaline myopathy provide evidence of impaired in vivo muscle function, altered muscle structure and disturbed energy metabolism.

Gineste C, Duhamel G, Le Fur Y, Vilmen C, Cozzone PJ, Nowak KJ, Bendahan D, Gondin J.

PLoS One. 2013 Aug 20;8(8):e72294. doi: 10.1371/journal.pone.0072294. eCollection 2013.

10.

Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.

Ravenscroft G, Jackaman C, Sewry CA, McNamara E, Squire SE, Potter AC, Papadimitriou J, Griffiths LM, Bakker AJ, Davies KE, Laing NG, Nowak KJ.

PLoS One. 2011;6(12):e28699. doi: 10.1371/journal.pone.0028699. Epub 2011 Dec 9.

11.

Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.

Ilkovski B, Cooper ST, Nowak K, Ryan MM, Yang N, Schnell C, Durling HJ, Roddick LG, Wilkinson I, Kornberg AJ, Collins KJ, Wallace G, Gunning P, Hardeman EC, Laing NG, North KN.

Am J Hum Genet. 2001 Jun;68(6):1333-43. Epub 2001 Apr 27.

12.

Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms.

Nowak KJ, Ravenscroft G, Laing NG.

Acta Neuropathol. 2013 Jan;125(1):19-32. doi: 10.1007/s00401-012-1019-z. Epub 2012 Jul 24. Review.

PMID:
22825594
13.

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.

14.

Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.

Agrawal PB, Strickland CD, Midgett C, Morales A, Newburger DE, Poulos MA, Tomczak KK, Ryan MM, Iannaccone ST, Crawford TO, Laing NG, Beggs AH.

Ann Neurol. 2004 Jul;56(1):86-96.

PMID:
15236405
15.

A novel ACTA1 mutation causing progressive facioscapuloperoneal myopathy in an adult.

Kao JC, Liewluck T, Milone M.

J Clin Neurosci. 2018 Jul;53:261-262. doi: 10.1016/j.jocn.2018.04.044. Epub 2018 May 3.

PMID:
29731279
16.

Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature.

Moreno CAM, Abath Neto O, Donkervoort S, Hu Y, Reed UC, Oliveira ASB, Bönnemann C, Zanoteli E.

Pediatr Neurol. 2017 Oct;75:11-16. doi: 10.1016/j.pediatrneurol.2017.04.002. Epub 2017 Apr 7. Review.

PMID:
28780987
17.

Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations.

Saito Y, Komaki H, Hattori A, Takeuchi F, Sasaki M, Kawabata K, Mitsuhashi S, Tominaga K, Hayashi YK, Nowak KJ, Laing NG, Nonaka I, Nishino I.

Neuromuscul Disord. 2011 Jul;21(7):489-93. doi: 10.1016/j.nmd.2011.03.004. Epub 2011 Apr 21.

PMID:
21514153
18.

Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1).

Ohlsson M, Tajsharghi H, Darin N, Kyllerman M, Oldfors A.

Neuromuscul Disord. 2004 Sep;14(8-9):471-5.

PMID:
15336687
19.

Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy.

Nguyen MA, Joya JE, Kee AJ, Domazetovska A, Yang N, Hook JW, Lemckert FA, Kettle E, Valova VA, Robinson PJ, North KN, Gunning PW, Mitchell CA, Hardeman EC.

Brain. 2011 Dec;134(Pt 12):3516-29. doi: 10.1093/brain/awr274. Epub 2011 Nov 8.

PMID:
22067542
20.

Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy.

Friedman B, Simpson K, Tesi-Rocha C, Zhou D, Palmer CA, Suchy SF.

Neuromuscul Disord. 2014 Apr;24(4):331-4. doi: 10.1016/j.nmd.2013.12.006. Epub 2013 Dec 24.

PMID:
24447884

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