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.
31. Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy. Tan P; Briner J; Boltshauser E; Davis MR; Wilton SD; North K; Wallgren-Pettersson C; Laing NG Neuromuscul Disord; 1999 Dec; 9(8):573-9. PubMed ID: 10619715 [TBL] [Abstract][Full Text] [Related]
32. Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene. Clayton JS; Scriba CK; Romero NB; Malfatti E; Saker S; Larmonier T; Nowak KJ; Ravenscroft G; Laing NG; Taylor RL Stem Cell Res; 2021 May; 53():102273. PubMed ID: 33740643 [TBL] [Abstract][Full Text] [Related]
35. 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]
36. TNNT1 nemaline myopathy: natural history and therapeutic frontier. Fox MD; Carson VJ; Feng HZ; Lawlor MW; Gray JT; Brigatti KW; Jin JP; Strauss KA Hum Mol Genet; 2018 Sep; 27(18):3272-3282. PubMed ID: 29931346 [TBL] [Abstract][Full Text] [Related]
37. Nemaline myopathy and non-fatal hypertrophic cardiomyopathy caused by a novel ACTA1 E239K mutation. Kim SY; Park YE; Kim HS; Lee CH; Yang DH; Kim DS J Neurol Sci; 2011 Aug; 307(1-2):171-3. PubMed ID: 21570694 [TBL] [Abstract][Full Text] [Related]
38. 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]
39. Nemaline myopathies: a current view. Sewry CA; Laitila JM; Wallgren-Pettersson C J Muscle Res Cell Motil; 2019 Jun; 40(2):111-126. PubMed ID: 31228046 [TBL] [Abstract][Full Text] [Related]
40. Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H). Koy A; Ilkovski B; Laing N; North K; Weis J; Neuen-Jacob E; Mayatepek E; Voit T Neuropediatrics; 2007 Dec; 38(6):282-6. PubMed ID: 18461503 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]