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Items: 1 to 20 of 404

1.

Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2).

Tajsharghi H, Ohlsson M, Lindberg C, Oldfors A.

Arch Neurol. 2007 Sep;64(9):1334-8.

PMID:
17846275
2.

New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations.

Ohlsson M, Quijano-Roy S, Darin N, Brochier G, Lacène E, Avila-Smirnow D, Fardeau M, Oldfors A, Tajsharghi H.

Neurology. 2008 Dec 2;71(23):1896-901. doi: 10.1212/01.wnl.0000336654.44814.b8.

PMID:
19047562
3.

De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy.

Durling HJ, Reilich P, Müller-Höcker J, Mendel B, Pongratz D, Wallgren-Pettersson C, Gunning P, Lochmüller H, Laing NG.

Neuromuscul Disord. 2002 Dec;12(10):947-51.

PMID:
12467750
4.

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy.

Donner K, Ollikainen M, Ridanpää M, Christen HJ, Goebel HH, de Visser M, Pelin K, Wallgren-Pettersson C.

Neuromuscul Disord. 2002 Feb;12(2):151-8.

PMID:
11738357
5.

Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2.

Lehtokari VL, Ceuterick-de Groote C, de Jonghe P, Marttila M, Laing NG, Pelin K, Wallgren-Pettersson C.

Neuromuscul Disord. 2007 Jun;17(6):433-42. Epub 2007 Apr 16.

PMID:
17434307
6.

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
7.

Myopathies associated with β-tropomyosin mutations.

Tajsharghi H, Ohlsson M, Palm L, Oldfors A.

Neuromuscul Disord. 2012 Nov;22(11):923-33. doi: 10.1016/j.nmd.2012.05.018. Epub 2012 Jun 29. Review.

PMID:
22749895
8.

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
9.

A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions.

Gommans IM, Davis M, Saar K, Lammens M, Mastaglia F, Lamont P, van Duijnhoven G, ter Laak HJ, Reis A, Vogels OJ, Laing N, van Engelen BG, Kremer H.

Brain. 2003 Jul;126(Pt 7):1545-51. Epub 2003 Jun 4. Erratum in: Brain. 2003 Sep;126(Pt 9):2115.

PMID:
12805120
10.

Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy.

Marttila M, Lemola E, Wallefeld W, Memo M, Donner K, Laing NG, Marston S, Grönholm M, Wallgren-Pettersson C.

Biochem J. 2012 Feb 15;442(1):231-9. doi: 10.1042/BJ20111030.

PMID:
22084935
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.

Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy.

Monnier N, Lunardi J, Marty I, Mezin P, Labarre-Vila A, Dieterich K, Jouk PS.

Neuromuscul Disord. 2009 Feb;19(2):118-23. doi: 10.1016/j.nmd.2008.11.009. Epub 2009 Jan 19.

PMID:
19155175
13.

A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy.

Corbett MA, Robinson CS, Dunglison GF, Yang N, Joya JE, Stewart AW, Schnell C, Gunning PW, North KN, Hardeman EC.

Hum Mol Genet. 2001 Feb 15;10(4):317-28.

PMID:
11157795
14.

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
15.

Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures.

Tasca G, Fattori F, Ricci E, Monforte M, Rizzo V, Mercuri E, Bertini E, Silvestri G.

Acta Neuropathol. 2013 Jan;125(1):169-71. doi: 10.1007/s00401-012-1049-6. Epub 2012 Sep 27. No abstract available.

PMID:
23015096
16.

An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.

Corbett MA, Akkari PA, Domazetovska A, Cooper ST, North KN, Laing NG, Gunning PW, Hardeman EC.

Ann Neurol. 2005 Jan;57(1):42-9.

PMID:
15562513
17.

Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation.

Tajsharghi H, Kimber E, Holmgren D, Tulinius M, Oldfors A.

Neurology. 2007 Mar 6;68(10):772-5.

PMID:
17339586
18.

Cap disease due to mutation of the beta-tropomyosin gene (TPM2).

Clarke NF, Domazetovska A, Waddell L, Kornberg A, McLean C, North KN.

Neuromuscul Disord. 2009 May;19(5):348-51. doi: 10.1016/j.nmd.2009.03.003. Epub 2009 Apr 3.

PMID:
19345583
19.

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
20.

Autosomal dominant nemaline myopathy: a new phenotype unlinked to previously known genetic loci.

Jeannet PY, Mittaz L, Dunand M, Lobrinus JA, Bonafe L, Kuntzer T.

Neuromuscul Disord. 2007 Jan;17(1):6-12. Epub 2006 Dec 6.

PMID:
17157023

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