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24. 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. PubMed ID: 19553116 [TBL] [Abstract][Full Text] [Related]
30. 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]
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33. TNNT1 myopathy with novel compound heterozygous mutations. Lee S; Eum J; Park S; Ki S; Hwang BJ; Kee Y; Chae JH Neuromuscul Disord; 2022 Feb; 32(2):176-184. PubMed ID: 35165004 [TBL] [Abstract][Full Text] [Related]
34. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Pelin K; Hilpelä P; Donner K; Sewry C; Akkari PA; Wilton SD; Wattanasirichaigoon D; Bang ML; Centner T; Hanefeld F; Odent S; Fardeau M; Urtizberea JA; Muntoni F; Dubowitz V; Beggs AH; Laing NG; Labeit S; de la Chapelle A; Wallgren-Pettersson C Proc Natl Acad Sci U S A; 1999 Mar; 96(5):2305-10. PubMed ID: 10051637 [TBL] [Abstract][Full Text] [Related]
35. 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. PubMed ID: 15336687 [TBL] [Abstract][Full Text] [Related]
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37. The de novo missense mutation N117S in skeletal muscle α‑actin 1 causes a mild form of congenital nemaline myopathy. Yang L; Yu P; Chen X; Cai T Mol Med Rep; 2016 Aug; 14(2):1693-6. PubMed ID: 27357517 [TBL] [Abstract][Full Text] [Related]
38. Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function. Sztal TE; Zhao M; Williams C; Oorschot V; Parslow AC; Giousoh A; Yuen M; Hall TE; Costin A; Ramm G; Bird PI; Busch-Nentwich EM; Stemple DL; Currie PD; Cooper ST; Laing NG; Nowak KJ; Bryson-Richardson RJ Acta Neuropathol; 2015 Sep; 130(3):389-406. PubMed ID: 25931053 [TBL] [Abstract][Full Text] [Related]
39. Loss of Tropomodulin4 in the zebrafish mutant träge causes cytoplasmic rod formation and muscle weakness reminiscent of nemaline myopathy. Berger J; Tarakci H; Berger S; Li M; Hall TE; Arner A; Currie PD Dis Model Mech; 2014 Dec; 7(12):1407-15. PubMed ID: 25288681 [TBL] [Abstract][Full Text] [Related]
40. Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy. Friedman B; Simpson K; Tesi-Rocha C; Zhou D; Palmer CA; Suchy SF Neuromuscul Disord; 2014 Apr; 24(4):331-4. PubMed ID: 24447884 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]