These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
6. Cullin-3 dependent deregulation of ACTN1 represents a new pathogenic mechanism in nemaline myopathy. Blondelle J; Tallapaka K; Seto JT; Ghassemian M; Clark M; Laitila JM; Bournazos A; Singer JD; Lange S JCI Insight; 2019 Apr; 5(10):. PubMed ID: 30990797 [TBL] [Abstract][Full Text] [Related]
7. The nebulin SH3 domain is dispensable for normal skeletal muscle structure but is required for effective active load bearing in mouse. Yamamoto DL; Vitiello C; Zhang J; Gokhin DS; Castaldi A; Coulis G; Piaser F; Filomena MC; Eggenhuizen PJ; Kunderfranco P; Camerini S; Takano K; Endo T; Crescenzi M; Luther PK; Lieber RL; Chen J; Bang ML J Cell Sci; 2013 Dec; 126(Pt 23):5477-89. PubMed ID: 24046450 [TBL] [Abstract][Full Text] [Related]
8. Lifting the nebula: novel insights into skeletal muscle contractility. Ottenheijm CA; Granzier H Physiology (Bethesda); 2010 Oct; 25(5):304-10. PubMed ID: 20940435 [TBL] [Abstract][Full Text] [Related]
10. Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism. Lindqvist J; Ma W; Li F; Hernandez Y; Kolb J; Kiss B; Tonino P; van der Pijl R; Karimi E; Gong H; Strom J; Hourani Z; Smith JE; Ottenheijm C; Irving T; Granzier H Nat Commun; 2020 Jun; 11(1):2699. PubMed ID: 32483185 [TBL] [Abstract][Full Text] [Related]
11. Nebulin regulates thin filament length, contractility, and Z-disk structure in vivo. Witt CC; Burkart C; Labeit D; McNabb M; Wu Y; Granzier H; Labeit S EMBO J; 2006 Aug; 25(16):3843-55. PubMed ID: 16902413 [TBL] [Abstract][Full Text] [Related]
12. Severe myopathy in mice lacking the MEF2/SRF-dependent gene leiomodin-3. Cenik BK; Garg A; McAnally JR; Shelton JM; Richardson JA; Bassel-Duby R; Olson EN; Liu N J Clin Invest; 2015 Apr; 125(4):1569-78. PubMed ID: 25774500 [TBL] [Abstract][Full Text] [Related]
13. Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy. Ottenheijm CA; Buck D; de Winter JM; Ferrara C; Piroddi N; Tesi C; Jasper JR; Malik FI; Meng H; Stienen GJ; Beggs AH; Labeit S; Poggesi C; Lawlor MW; Granzier H Brain; 2013 Jun; 136(Pt 6):1718-31. PubMed ID: 23715096 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Expressing a Z-disk nebulin fragment in nebulin-deficient mouse muscle: effects on muscle structure and function. Li F; Kolb J; Crudele J; Tonino P; Hourani Z; Smith JE; Chamberlain JS; Granzier H Skelet Muscle; 2020 Jan; 10(1):2. PubMed ID: 31992366 [TBL] [Abstract][Full Text] [Related]
17. In vivo characterization of skeletal muscle function in nebulin-deficient mice. Gineste C; Ogier AC; Varlet I; Hourani Z; Bernard M; Granzier H; Bendahan D; Gondin J Muscle Nerve; 2020 Mar; 61(3):416-424. PubMed ID: 31893464 [TBL] [Abstract][Full Text] [Related]
18. Functional Characterization of the Intact Diaphragm in a Nebulin-Based Nemaline Myopathy (NM) Model-Effects of the Fast Skeletal Muscle Troponin Activator Lee EJ; Kolb J; Hwee DT; Malik FI; Granzier HL Int J Mol Sci; 2019 Oct; 20(20):. PubMed ID: 31658633 [TBL] [Abstract][Full Text] [Related]