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.
16. Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. Klein A; Jungbluth H; Clement E; Lillis S; Abbs S; Munot P; Pane M; Wraige E; Schara U; Straub V; Mercuri E; Muntoni F Arch Neurol; 2011 Sep; 68(9):1171-9. PubMed ID: 21911697 [TBL] [Abstract][Full Text] [Related]
17. Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Jungbluth H; Lillis S; Zhou H; Abbs S; Sewry C; Swash M; Muntoni F Neuromuscul Disord; 2009 May; 19(5):344-7. PubMed ID: 19303294 [TBL] [Abstract][Full Text] [Related]
18. MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvement. Schessl J; Medne L; Hu Y; Zou Y; Brown MJ; Huse JT; Torigian DA; Jungbluth H; Goebel HH; Bönnemann CG Neuromuscul Disord; 2007 Jan; 17(1):28-32. PubMed ID: 17134899 [TBL] [Abstract][Full Text] [Related]
19. Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation. Sato I; Wu S; Ibarra MC; Hayashi YK; Fujita H; Tojo M; Oh SJ; Nonaka I; Noguchi S; Nishino I Neurology; 2008 Jan; 70(2):114-22. PubMed ID: 17538032 [TBL] [Abstract][Full Text] [Related]
20. A novel mutation in the DNM2 gene impairs dynamin 2 localization in skeletal muscle of a patient with late onset centronuclear myopathy. Kierdaszuk B; Berdynski M; Karolczak J; Redowicz MJ; Zekanowski C; Kaminska AM Neuromuscul Disord; 2013 Mar; 23(3):219-28. PubMed ID: 23374900 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]