Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 299

1.

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
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
11333380
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.

D'Amico A, Graziano C, Pacileo G, Petrini S, Nowak KJ, Boldrini R, Jacques A, Feng JJ, Porfirio B, Sewry CA, Santorelli FM, Limongelli G, Bertini E, Laing N, Marston SB.

Neuromuscul Disord. 2006 Oct;16(9-10):548-52. Epub 2006 Sep 1.

PMID:
16945537
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.

Monnier N, Romero NB, Lerale J, Nivoche Y, Qi D, MacLennan DH, Fardeau M, Lunardi J.

Hum Mol Genet. 2000 Nov 1;9(18):2599-608.

PMID:
11063719
[PubMed - indexed for MEDLINE]
Free Article
9.

Nebulin expression in patients with nemaline myopathy.

Gurgel-Giannetti J, Reed U, Bang ML, Pelin K, Donner K, Marie SK, Carvalho M, Fireman MA, Zanoteli E, Oliveira AS, Zatz M, Wallgren-Pettersson C, Labeit S, Vainzof M.

Neuromuscul Disord. 2001 Mar;11(2):154-62.

PMID:
11257471
[PubMed - indexed for MEDLINE]
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.

PMID:
22174871
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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
[PubMed - indexed for MEDLINE]
12.

Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.

Wallgren-Pettersson C, Pelin K, Nowak KJ, Muntoni F, Romero NB, Goebel HH, North KN, Beggs AH, Laing NG; ENMC International Consortium On Nemaline Myopathy.

Neuromuscul Disord. 2004 Sep;14(8-9):461-70.

PMID:
15336686
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

Clinical course correlates poorly with muscle pathology in nemaline myopathy.

Ryan MM, Ilkovski B, Strickland CD, Schnell C, Sanoudou D, Midgett C, Houston R, Muirhead D, Dennett X, Shield LK, De Girolami U, Iannaccone ST, Laing NG, North KN, Beggs AH.

Neurology. 2003 Feb 25;60(4):665-73.

PMID:
12601110
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy.

Wattanasirichaigoon D, Swoboda KJ, Takada F, Tong HQ, Lip V, Iannaccone ST, Wallgren-Pettersson C, Laing NG, Beggs AH.

Neurology. 2002 Aug 27;59(4):613-7.

PMID:
12196661
[PubMed - indexed for MEDLINE]
17.

Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H).

Koy A, Ilkovski B, Laing N, North K, Weis J, Neuen-Jacob E, Mayatepek E, Voit T.

Neuropediatrics. 2007 Dec;38(6):282-6. doi: 10.1055/s-2008-1065356.

PMID:
18461503
[PubMed - indexed for MEDLINE]
18.

Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.

Ilkovski B, Nowak KJ, Domazetovska A, Maxwell AL, Clement S, Davies KE, Laing NG, North KN, Cooper ST.

Hum Mol Genet. 2004 Aug 15;13(16):1727-43. Epub 2004 Jun 15.

PMID:
15198992
[PubMed - indexed for MEDLINE]
Free Article
19.

Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.

Sewry CA, Brown SC, Pelin K, Jungbluth H, Wallgren-Pettersson C, Labeit S, Manzur A, Muntoni F.

Neuromuscul Disord. 2001 Mar;11(2):146-53.

PMID:
11257470
[PubMed - indexed for MEDLINE]
20.

alpha-Skeletal muscle actin nemaline myopathy mutants cause cell death in cultured muscle cells.

Vandamme D, Lambert E, Waterschoot D, Cognard C, Vandekerckhove J, Ampe C, Constantin B, Rommelaere H.

Biochim Biophys Acta. 2009 Jul;1793(7):1259-71. doi: 10.1016/j.bbamcr.2009.04.004. Epub 2009 Apr 21.

PMID:
19393268
[PubMed - indexed for MEDLINE]
Free Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk