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.
11. Mutations in myotilin cause myofibrillar myopathy. Selcen D; Engel AG Neurology; 2004 Apr; 62(8):1363-71. PubMed ID: 15111675 [TBL] [Abstract][Full Text] [Related]
12. Pathophysiology of protein aggregation and extended phenotyping in filaminopathy. Kley RA; Serdaroglu-Oflazer P; Leber Y; Odgerel Z; van der Ven PF; Olivé M; Ferrer I; Onipe A; Mihaylov M; Bilbao JM; Lee HS; Höhfeld J; Djinović-Carugo K; Kong K; Tegenthoff M; Peters SA; Stenzel W; Vorgerd M; Goldfarb LG; Fürst DO Brain; 2012 Sep; 135(Pt 9):2642-60. PubMed ID: 22961544 [TBL] [Abstract][Full Text] [Related]
13. The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins. Gontier Y; Taivainen A; Fontao L; Sonnenberg A; van der Flier A; Carpen O; Faulkner G; Borradori L J Cell Sci; 2005 Aug; 118(Pt 16):3739-49. PubMed ID: 16076904 [TBL] [Abstract][Full Text] [Related]
16. Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations. Selcen D; Engel AG Ann Neurol; 2003 Dec; 54(6):804-10. PubMed ID: 14681890 [TBL] [Abstract][Full Text] [Related]
17. Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy. Lin X; Ruiz J; Bajraktari I; Ohman R; Banerjee S; Gribble K; Kaufman JD; Wingfield PT; Griggs RC; Fischbeck KH; Mankodi A J Biol Chem; 2014 May; 289(19):13615-26. PubMed ID: 24668811 [TBL] [Abstract][Full Text] [Related]
18. Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC. Avila-Smirnow D; Gueneau L; Batonnet-Pichon S; Delort F; Bécane HM; Claeys K; Beuvin M; Goudeau B; Jais JP; Nelson I; Richard P; Ben Yaou R; Romero NB; Wahbi K; Mathis S; Voit T; Furst D; van der Ven P; Gil R; Vicart P; Fardeau M; Bonne G; Behin A Rev Neurol (Paris); 2016 Oct; 172(10):594-606. PubMed ID: 27633507 [TBL] [Abstract][Full Text] [Related]
19. Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy. Selcen D; Bromberg MB; Chin SS; Engel AG Neurology; 2011 Nov; 77(22):1951-9. PubMed ID: 22094483 [TBL] [Abstract][Full Text] [Related]
20. Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function. Unger A; Beckendorf L; Böhme P; Kley R; von Frieling-Salewsky M; Lochmüller H; Schröder R; Fürst DO; Vorgerd M; Linke WA Acta Neuropathol Commun; 2017 Sep; 5(1):72. PubMed ID: 28915917 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]