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Items: 1 to 20 of 274

1.

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
2.

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
3.

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
4.

Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1.

Hung RM, Yoon G, Hawkins CE, Halliday W, Biggar D, Vajsar J.

Neuromuscul Disord. 2010 Apr;20(4):238-40. doi: 10.1016/j.nmd.2010.01.011. Epub 2010 Mar 19. Erratum in: Neuromuscul Disord.2010 Aug;20(8):567.

PMID:
20303757
5.

TPM3 mutation in one of the original cases of cap disease.

Ohlsson M, Fidzianska A, Tajsharghi H, Oldfors A.

Neurology. 2009 Jun 2;72(22):1961-3. doi: 10.1212/WNL.0b013e3181a82659. No abstract available.

PMID:
19487656
6.

Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3.

Waddell LB, Kreissl M, Kornberg A, Kennedy P, McLean C, Labarre-Vila A, Monnier N, North KN, Clarke NF.

Neuromuscul Disord. 2010 Jul;20(7):464-6. doi: 10.1016/j.nmd.2010.05.012. Epub 2010 Jun 15.

PMID:
20554445
7.

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
8.

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
9.

New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7.

Darin N, Tajsharghi H, Ostman-Smith I, Gilljam T, Oldfors A.

Neurology. 2007 Jun 5;68(23):2041-2. No abstract available.

PMID:
17548557
10.

Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.

Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C, Brockington M, Robb SA, Straub V, Voit T, Swash M, Ferreiro A, Bydder G, Sewry CA, Müller C, Muntoni F.

Neurology. 2005 Dec 27;65(12):1930-5.

PMID:
16380615
11.

Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C.

Tajsharghi H, Leren TP, Abdul-Hussein S, Tulinius M, Brunvand L, Dahl HM, Oldfors A.

J Med Genet. 2010 Aug;47(8):575-7. doi: 10.1136/jmg.2009.072710. Epub 2009 Oct 26.

PMID:
19858127
12.

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
13.

Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation.

Uro-Coste E, Arné-Bes MC, Pellissier JF, Richard P, Levade T, Heitz F, Figarella-Branger D, Delisle MB.

Neuromuscul Disord. 2009 Feb;19(2):163-6. doi: 10.1016/j.nmd.2008.11.012. Epub 2009 Jan 12.

PMID:
19138847
14.

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
15.

A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance.

Mayr JA, Moslemi AR, Förster H, Kamper A, Idriceanu C, Muss W, Huemer M, Oldfors A, Sperl W.

Neuromuscul Disord. 2006 Dec;16(12):874-7. Epub 2006 Oct 20.

PMID:
17056256
16.

A TPM3 mutation causing cap myopathy.

De Paula AM, Franques J, Fernandez C, Monnier N, Lunardi J, Pellissier JF, Figarella-Branger D, Pouget J.

Neuromuscul Disord. 2009 Oct;19(10):685-8. doi: 10.1016/j.nmd.2009.06.365. Epub 2009 Jun 23.

PMID:
19553118
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.

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.

Mokbel N, Ilkovski B, Kreissl M, Memo M, Jeffries CM, Marttila M, Lehtokari VL, Lemola E, Grönholm M, Yang N, Menard D, Marcorelles P, Echaniz-Laguna A, Reimann J, Vainzof M, Monnier N, Ravenscroft G, McNamara E, Nowak KJ, Laing NG, Wallgren-Pettersson C, Trewhella J, Marston S, Ottenheijm C, North KN, Clarke NF.

Brain. 2013 Feb;136(Pt 2):494-507. doi: 10.1093/brain/aws348. Epub 2013 Jan 31.

PMID:
23378224
19.

Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation.

Arias M, Pardo J, Blanco-Arias P, Sobrido MJ, Arias S, Dapena D, Carracedo A, Goldfarb LG, Navarro C.

Neuromuscul Disord. 2006 Aug;16(8):498-503. Epub 2006 Jun 27.

PMID:
16806931
20.

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

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