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Items: 1 to 20 of 171

1.

Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.

Lawlor MW, Dechene ET, Roumm E, Geggel AS, Moghadaszadeh B, Beggs AH.

Hum Mutat. 2010 Feb;31(2):176-83. doi: 10.1002/humu.21157.

2.

Mutations in TPM3 are a common cause of congenital fiber type disproportion.

Clarke NF, Kolski H, Dye DE, Lim E, Smith RL, Patel R, Fahey MC, Bellance R, Romero NB, Johnson ES, Labarre-Vila A, Monnier N, Laing NG, North KN.

Ann Neurol. 2008 Mar;63(3):329-37. doi: 10.1002/ana.21308.

PMID:
18300303
3.

Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene.

Malfatti E, Schaeffer U, Chapon F, Yang Y, Eymard B, Xu R, Laporte J, Romero NB.

Neuromuscul Disord. 2013 Dec;23(12):992-7. doi: 10.1016/j.nmd.2013.07.003. Epub 2013 Oct 2.

PMID:
24095155
4.

Congenital myotonic dystrophy can show congenital fiber type disproportion pathology.

Tominaga K, Hayashi YK, Goto K, Minami N, Noguchi S, Nonaka I, Miki T, Nishino I.

Acta Neuropathol. 2010 Apr;119(4):481-6. doi: 10.1007/s00401-010-0660-7. Epub 2010 Feb 24.

PMID:
20179953
5.

Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia.

Munot P, Lashley D, Jungbluth H, Feng L, Pitt M, Robb SA, Palace J, Jayawant S, Kennet R, Beeson D, Cullup T, Abbs S, Laing N, Sewry C, Muntoni F.

Neuromuscul Disord. 2010 Dec;20(12):796-800. doi: 10.1016/j.nmd.2010.07.274. Epub 2010 Oct 14.

PMID:
20951040
6.

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
7.

SEPN1: associated with congenital fiber-type disproportion and insulin resistance.

Clarke NF, Kidson W, Quijano-Roy S, Estournet B, Ferreiro A, Guicheney P, Manson JI, Kornberg AJ, Shield LK, North KN.

Ann Neurol. 2006 Mar;59(3):546-52.

PMID:
16365872
8.

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
9.

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
10.

Congenital fiber type disproportion myopathy caused by LMNA mutations.

Kajino S, Ishihara K, Goto K, Ishigaki K, Noguchi S, Nonaka I, Osawa M, Nishino I, Hayashi YK.

J Neurol Sci. 2014 May 15;340(1-2):94-8. doi: 10.1016/j.jns.2014.02.036. Epub 2014 Mar 5.

PMID:
24642510
11.

Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.

Ilkovski B, Mokbel N, Lewis RA, Walker K, Nowak KJ, Domazetovska A, Laing NG, Fowler VM, North KN, Cooper ST.

J Neuropathol Exp Neurol. 2008 Sep;67(9):867-77. doi: 10.1097/NEN.0b013e318183a44f.

12.

Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy.

Ottenheijm CA, Lawlor MW, Stienen GJ, Granzier H, Beggs AH.

Hum Mol Genet. 2011 May 15;20(10):2015-25. doi: 10.1093/hmg/ddr084. Epub 2011 Feb 28.

13.

Actin mutations are one cause of congenital fibre type disproportion.

Laing NG, Clarke NF, Dye DE, Liyanage K, Walker KR, Kobayashi Y, Shimakawa S, Hagiwara T, Ouvrier R, Sparrow JC, Nishino I, North KN, Nonaka I.

Ann Neurol. 2004 Nov;56(5):689-94.

PMID:
15468086
14.

Congenital myopathy with cap-like structures and nemaline rods: case report and literature review.

Piteau SJ, Rossiter JP, Smith RG, MacKenzie JJ.

Pediatr Neurol. 2014 Aug;51(2):192-7. doi: 10.1016/j.pediatrneurol.2014.04.002. Epub 2014 Apr 12. Review.

PMID:
25079567
15.

Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy.

Tan P, Briner J, Boltshauser E, Davis MR, Wilton SD, North K, Wallgren-Pettersson C, Laing NG.

Neuromuscul Disord. 1999 Dec;9(8):573-9.

PMID:
10619715
16.

Novel TPM3 mutation in a family with cap myopathy and review of the literature.

Schreckenbach T, Schröder JM, Voit T, Abicht A, Neuen-Jacob E, Roos A, Bulst S, Kuhl C, Schulz JB, Weis J, Claeys KG.

Neuromuscul Disord. 2014 Feb;24(2):117-24. doi: 10.1016/j.nmd.2013.10.002. Epub 2013 Oct 23. Review.

PMID:
24239060
17.

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.

Clarke NF, Waddell LB, Cooper ST, Perry M, Smith RL, Kornberg AJ, Muntoni F, Lillis S, Straub V, Bushby K, Guglieri M, King MD, Farrell MA, Marty I, Lunardi J, Monnier N, North KN.

Hum Mutat. 2010 Jul;31(7):E1544-50. doi: 10.1002/humu.21278.

PMID:
20583297
18.

Mutations in TPM2 and congenital fibre type disproportion.

Clarke NF, Waddell LB, Sie LT, van Bon BW, McLean C, Clark D, Kornberg A, Lammens M, North KN.

Neuromuscul Disord. 2012 Nov;22(11):955-8. doi: 10.1016/j.nmd.2012.06.002. Epub 2012 Jul 24.

PMID:
22832343
19.

[Nemaline myopathy as a cause of neonatal hypotonia - with emphasis on personal experiences. Report of a family with two brothers affected].

Bojdo A, Obersztyn E, Wallgren-Pettersson C, Lehtokari V, Laing N, Davis M, Kułakowska Z.

Med Wieku Rozwoj. 2009 Jan-Mar;13(1):5-10. Polish.

PMID:
19648653
20.

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
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