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If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD).
Hilbert JE, Kissel JT, Luebbe EA, Martens WB, McDermott MP, Sanders DB, Tawil R, Thornton CA, Moxley RT 3rd; Registry Scientific Advisory Committee. Hilbert JE, et al. Contemp Clin Trials. 2012 Mar;33(2):302-11. doi: 10.1016/j.cct.2011.11.016. Epub 2011 Nov 26. Contemp Clin Trials. 2012. PMID: 22155025 Free PMC article.
Cerebral and muscle MRI abnormalities in myotonic dystrophy.
Franc DT, Muetzel RL, Robinson PR, Rodriguez CP, Dalton JC, Naughton CE, Mueller BA, Wozniak JR, Lim KO, Day JW. Franc DT, et al. Neuromuscul Disord. 2012 Jun;22(6):483-91. doi: 10.1016/j.nmd.2012.01.003. Epub 2012 Jan 30. Neuromuscul Disord. 2012. PMID: 22290140 Free PMC article.
Diagnostic odyssey of patients with myotonic dystrophy.
Hilbert JE, Ashizawa T, Day JW, Luebbe EA, Martens WB, McDermott MP, Tawil R, Thornton CA, Moxley RT 3rd. Hilbert JE, et al. J Neurol. 2013 Oct;260(10):2497-504. doi: 10.1007/s00415-013-6993-0. Epub 2013 Jun 27. J Neurol. 2013. PMID: 23807151 Free PMC article.