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Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.
Tajsharghi H, Hammans S, Lindberg C, Lossos A, Clarke NF, Mazanti I, Waddell LB, Fellig Y, Foulds N, Katifi H, Webster R, Raheem O, Udd B, Argov Z, Oldfors A. Tajsharghi H, et al. Among authors: raheem o. Eur J Hum Genet. 2014 Jun;22(6):801-8. doi: 10.1038/ejhg.2013.250. Epub 2013 Nov 6. Eur J Hum Genet. 2014. PMID: 24193343 Free PMC article.
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
Duff RM, Tay V, Hackman P, Ravenscroft G, McLean C, Kennedy P, Steinbach A, Schöffler W, van der Ven PFM, Fürst DO, Song J, Djinović-Carugo K, Penttilä S, Raheem O, Reardon K, Malandrini A, Gambelli S, Villanova M, Nowak KJ, Williams DR, Landers JE, Brown RH Jr, Udd B, Laing NG. Duff RM, et al. Among authors: raheem o. Am J Hum Genet. 2011 Jun 10;88(6):729-740. doi: 10.1016/j.ajhg.2011.04.021. Epub 2011 May 27. Am J Hum Genet. 2011. PMID: 21620354 Free PMC article.
Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D.
Sandell S, Huovinen S, Palmio J, Raheem O, Lindfors M, Zhao F, Haapasalo H, Udd B. Sandell S, et al. Among authors: raheem o. Acta Neuropathol Commun. 2016 Feb 5;4:9. doi: 10.1186/s40478-016-0276-9. Acta Neuropathol Commun. 2016. PMID: 26847086 Free PMC article.
Atypical phenotypes in titinopathies explained by second titin mutations.
Evilä A, Vihola A, Sarparanta J, Raheem O, Palmio J, Sandell S, Eymard B, Illa I, Rojas-Garcia R, Hankiewicz K, Negrão L, Löppönen T, Nokelainen P, Kärppä M, Penttilä S, Screen M, Suominen T, Richard I, Hackman P, Udd B. Evilä A, et al. Among authors: raheem o. Ann Neurol. 2014 Feb;75(2):230-40. doi: 10.1002/ana.24102. Epub 2014 Feb 24. Ann Neurol. 2014. PMID: 24395473
183 results