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.
12. Neb: a zebrafish model of nemaline myopathy due to nebulin mutation. Telfer WR; Nelson DD; Waugh T; Brooks SV; Dowling JJ Dis Model Mech; 2012 May; 5(3):389-96. PubMed ID: 22159874 [TBL] [Abstract][Full Text] [Related]
13. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Agrawal PB; Greenleaf RS; Tomczak KK; Lehtokari VL; Wallgren-Pettersson C; Wallefeld W; Laing NG; Darras BT; Maciver SK; Dormitzer PR; Beggs AH Am J Hum Genet; 2007 Jan; 80(1):162-7. PubMed ID: 17160903 [TBL] [Abstract][Full Text] [Related]
15. [Nemaline myopathy as a cause of neonatal hypotonia - with emphasis on personal experiences. Report of a family with two brothers affected]. Bojdo A; Obersztyn E; Wallgren-Pettersson C; Lehtokari V; Laing N; Davis M; Kułakowska Z Med Wieku Rozwoj; 2009; 13(1):5-10. PubMed ID: 19648653 [TBL] [Abstract][Full Text] [Related]
16. Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1). Abdulhaq UN; Daana M; Dor T; Fellig Y; Eylon S; Schuelke M; Shaag A; Elpeleg O; Edvardson S Muscle Nerve; 2016 Apr; 53(4):564-9. PubMed ID: 26296490 [TBL] [Abstract][Full Text] [Related]
17. Histopathologic progression and a novel mutation in a child with nemaline myopathy. Ladha S; Coons S; Johnsen S; Sambuughin N; Bien-Wilner R; Sivakumar K J Child Neurol; 2008 Jul; 23(7):813-7. PubMed ID: 18487519 [TBL] [Abstract][Full Text] [Related]
18. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Sambuughin N; Yau KS; Olivé M; Duff RM; Bayarsaikhan M; Lu S; Gonzalez-Mera L; Sivadorai P; Nowak KJ; Ravenscroft G; Mastaglia FL; North KN; Ilkovski B; Kremer H; Lammens M; van Engelen BG; Fabian V; Lamont P; Davis MR; Laing NG; Goldfarb LG Am J Hum Genet; 2010 Dec; 87(6):842-7. PubMed ID: 21109227 [TBL] [Abstract][Full Text] [Related]
19. Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. Lehtokari VL; Pelin K; Herczegfalvi A; Karcagi V; Pouget J; Franques J; Pellissier JF; Figarella-Branger D; von der Hagen M; Huebner A; Schoser B; Lochmüller H; Wallgren-Pettersson C Neuromuscul Disord; 2011 Aug; 21(8):556-62. PubMed ID: 21724397 [TBL] [Abstract][Full Text] [Related]