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22. Familial cardiac and skeletal myopathy associated with desmin accumulation. Porcu M; Muntoni F; Catani G; Mereu D Clin Cardiol; 1994 May; 17(5):277-9. PubMed ID: 8004844 [TBL] [Abstract][Full Text] [Related]
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24. Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy. Li F; Buck D; De Winter J; Kolb J; Meng H; Birch C; Slater R; Escobar YN; Smith JE; Yang L; Konhilas J; Lawlor MW; Ottenheijm C; Granzier HL Hum Mol Genet; 2015 Sep; 24(18):5219-33. PubMed ID: 26123491 [TBL] [Abstract][Full Text] [Related]
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26. 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]
27. [Myocyte sarcolemmal and cytoskeleton proteins in inherited muscular diseases]. Carpén O Duodecim; 2003; 119(3):179-86. PubMed ID: 12650015 [No Abstract] [Full Text] [Related]
28. A nebulin super-repeat panel reveals stronger actin binding toward the ends of the super-repeat region. Laitila J; Lehtonen J; Lehtokari VL; Sagath L; Wallgren-Pettersson C; Grönholm M; Pelin K Muscle Nerve; 2019 Jan; 59(1):116-121. PubMed ID: 30265400 [TBL] [Abstract][Full Text] [Related]
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31. Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy. Sewry CA; Brown SC; Pelin K; Jungbluth H; Wallgren-Pettersson C; Labeit S; Manzur A; Muntoni F Neuromuscul Disord; 2001 Mar; 11(2):146-53. PubMed ID: 11257470 [TBL] [Abstract][Full Text] [Related]
32. Immunophenotyping of congenital myopathies: disorganization of sarcomeric, cytoskeletal and extracellular matrix proteins. van der Ven PF; Jap PH; ter Laak HJ; Nonaka I; Barth PG; Sengers RC; Stadhouders AM; Ramaekers FC J Neurol Sci; 1995 Apr; 129(2):199-213. PubMed ID: 7608737 [TBL] [Abstract][Full Text] [Related]
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