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2. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Laing NG; Wilton SD; Akkari PA; Dorosz S; Boundy K; Kneebone C; Blumbergs P; White S; Watkins H; Love DR Nat Genet; 1995 Jan; 9(1):75-9. PubMed ID: 7704029 [TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 17846275 [TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 15562513 [TBL] [Abstract][Full Text] [Related]
8. Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin. Lehtokari VL; Pelin K; Donner K; Voit T; Rudnik-Schöneborn S; Stoetter M; Talim B; Topaloglu H; Laing NG; Wallgren-Pettersson C Eur J Hum Genet; 2008 Sep; 16(9):1055-61. PubMed ID: 18382475 [TBL] [Abstract][Full Text] [Related]
9. Myofiber adaptational response to exercise in a mouse model of nemaline myopathy. Nair-Shalliker V; Kee AJ; Joya JE; Lucas CA; Hoh JF; Hardeman EC Muscle Nerve; 2004 Oct; 30(4):470-80. PubMed ID: 15372535 [TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 12805120 [TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 23015096 [No Abstract] [Full Text] [Related]
12. A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study. Pénisson-Besnier I; Monnier N; Toutain A; Dubas F; Laing N Neuromuscul Disord; 2007 Apr; 17(4):330-7. PubMed ID: 17376686 [TBL] [Abstract][Full Text] [Related]
13. 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; 59(4):613-7. PubMed ID: 12196661 [TBL] [Abstract][Full Text] [Related]
14. Myopathies associated with β-tropomyosin mutations. Tajsharghi H; Ohlsson M; Palm L; Oldfors A Neuromuscul Disord; 2012 Nov; 22(11):923-33. PubMed ID: 22749895 [TBL] [Abstract][Full Text] [Related]
15. Dietary L-tyrosine supplementation in nemaline myopathy. Ryan MM; Sy C; Rudge S; Ellaway C; Ketteridge D; Roddick LG; Iannaccone ST; Kornberg AJ; North KN J Child Neurol; 2008 Jun; 23(6):609-13. PubMed ID: 18079309 [TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 19155175 [TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 12467750 [TBL] [Abstract][Full Text] [Related]
19. Expression and biological activity of Baculovirus generated wild-type human slow alpha tropomyosin and the Met9Arg mutant responsible for a dominant form of nemaline myopathy. Akkari PA; Song Y; Hitchcock-DeGregori S; Blechynden L; Laing N Biochem Biophys Res Commun; 2002 Aug; 296(2):300-4. PubMed ID: 12163017 [TBL] [Abstract][Full Text] [Related]
20. Report of the 70th ENMC International Workshop: nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands. Wallgren-Pettersson C; Laing NG Neuromuscul Disord; 2000 Jun; 10(4-5):299-306. PubMed ID: 10838258 [No Abstract] [Full Text] [Related] [Next] [New Search]