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Items: 1 to 20 of 112

1.

Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations.

Witting N, Werlauff U, Duno M, Vissing J.

Muscle Nerve. 2016 Mar;53(3):388-93. doi: 10.1002/mus.24765. Epub 2015 Aug 13.

PMID:
26172852
2.

Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.

Jungbluth H, Sewry CA, Brown SC, Nowak KJ, Laing NG, Wallgren-Pettersson C, Pelin K, Manzur AY, Mercuri E, Dubowitz V, Muntoni F.

Neuromuscul Disord. 2001 Jan;11(1):35-40.

PMID:
11166164
3.

Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy.

Citirak G, Witting N, Duno M, Werlauff U, Petri H, Vissing J.

Neuromuscul Disord. 2014 Apr;24(4):325-30. doi: 10.1016/j.nmd.2013.12.008. Epub 2014 Jan 3.

PMID:
24507666
4.

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
5.

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.

6.

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.

7.

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
8.

A de novo dominant mutation in ACTA1 causing congenital nemaline myopathy associated with a milder phenotype: expanding the spectrum of dominant ACTA1 mutations.

Levesque L, Del Bigio MR, Krawitz S, Mhanni AA.

Neuromuscul Disord. 2013 Mar;23(3):239-42. doi: 10.1016/j.nmd.2012.12.004. Epub 2013 Jan 8.

PMID:
23305948
9.

Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

Sparrow JC, Nowak KJ, Durling HJ, Beggs AH, Wallgren-Pettersson C, Romero N, Nonaka I, Laing NG.

Neuromuscul Disord. 2003 Sep;13(7-8):519-31. Review.

PMID:
12921789
10.

Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies.

Feng JJ, Marston S.

Neuromuscul Disord. 2009 Jan;19(1):6-16. doi: 10.1016/j.nmd.2008.09.005. Epub 2008 Oct 30. Review.

PMID:
18976909
11.

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.

Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Müller CR, Nürnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG.

Nat Genet. 1999 Oct;23(2):208-12.

PMID:
10508519
12.

Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

Laing NG, Dye DE, Wallgren-Pettersson C, Richard G, Monnier N, Lillis S, Winder TL, Lochmüller H, Graziano C, Mitrani-Rosenbaum S, Twomey D, Sparrow JC, Beggs AH, Nowak KJ.

Hum Mutat. 2009 Sep;30(9):1267-77. doi: 10.1002/humu.21059.

13.

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
14.

Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1).

Wallefeld W, Krause S, Nowak KJ, Dye D, Horváth R, Molnár Z, Szabó M, Hashimoto K, Reina C, De Carlos J, Rosell J, Cabello A, Navarro C, Nishino I, Lochmüller H, Laing NG.

Neuromuscul Disord. 2006 Oct;16(9-10):541-7. Epub 2006 Sep 1.

PMID:
16945536
15.

Magnetic resonance imaging of muscle in nemaline myopathy.

Jungbluth H, Sewry CA, Counsell S, Allsop J, Chattopadhyay A, Mercuri E, North K, Laing N, Bydder G, Pelin K, Wallgren-Pettersson C, Muntoni F.

Neuromuscul Disord. 2004 Dec;14(12):779-84.

PMID:
15564032
16.

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.

17.

Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred.

Hutchinson DO, Charlton A, Laing NG, Ilkovski B, North KN.

Neuromuscul Disord. 2006 Feb;16(2):113-21. Epub 2006 Jan 19.

PMID:
16427282
18.

Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn).

Schröder JM, Durling H, Laing N.

Acta Neuropathol. 2004 Sep;108(3):250-6. Epub 2004 Jun 24.

PMID:
15221331
19.

[Sibling cases of severe infantile form of nemaline myopathy with ACTA1-gene mutation].

Sudo A, Hayashi Y, Sano H, Kawamura N, Nishino I, Nonaka I.

No To Hattatsu. 2013 Nov;45(6):452-6. Japanese.

PMID:
24313005
20.

Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele.

Garcia-Angarita N, Kirschner J, Heiliger M, Thirion C, Walter MC, Schnittfeld-Acarlioglu S, Albrecht M, Müller K, Wieczorek D, Lochmüller H, Krause S.

Neuromuscul Disord. 2009 Jul;19(7):481-4. doi: 10.1016/j.nmd.2009.05.001. Epub 2009 Jun 23.

PMID:
19553116

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