Published Manuscripts

  1. Miró J, Gertz KJ, Carter GT, Jensen MP (2013). Pain location and intensity impacts function in persons with myotonic type 1 and facioscapulohumeral dystrophy with chronic pain. Muscle Nerve. 2014. Jan 11. [Epub ahead of print]
  2. Smith AE, McMullen K, Jensen MP, Carter GT, Molton IR (2013). Symptom Burden in Persons with Myotonic and Facioscapulohumeral Muscular Dystrophy. Am J Phys Med Rehabil. 2013. Nov 16. [Epub ahead of print]
  3. Gadalla SM, Pfeiffer RM, Kristinsson SY, Björkholm M, Hilbert JE, Moxley RT 3rd, Landgren O, Greene MH (2013). Quantifying cancer absolute risk and cancer mortality in the presence of competing events after a myotonic dystrophy diagnosis. PLoS One, Nov 13;8(11).
  4. Heatwole C, Bode R, Johnson N, Dekdebrun J, Dilek N, Heatwole M, Hilbert JE, Luebbe E, Martens W, McDermott MP, Rothrock N, Thornton C, Vickrey BG, Victorson D, Moxley R, 3rd (2013). The myotonic dystrophy health index: Initial evaluation of a new outcome measure. Muscle Nerve, 2013 Oct 19. [Epub ahead of print]
  5. Hilbert JE, Ashizawa T, Day JW, Luebbe EA, Martens WB, McDermott MP, Tawil R, Thornton CA, Moxley RT, 3rd (2013). Diagnostic odyssey of patients with myotonic dystrophy. J Neurol., 260(10):2497-504.
  6. Kalman L, Tarleton J, Hitch M, Hegde M, Hjelm N, Berry-Kravis E, Zhou L, Hilbert JE, Luebbe EA, Moxley RT, 3rd, Toji L (2013). Development of a genomic DNA reference materials panel for myotonic dystrophy type 1 (DM1) genetic testing. Journal of Molecular Diagnostics, 15(4):518-525.
  7. Statland JM, Tawil R (2013). Risk of functional impairment in facioscapulohumeral muscular dystrophy. Muscle Nerve, 2013 Jul 19. [Epub ahead of print]
  8. Statland JM, Sacconi S, Farmakidis C, Donlin-Smith CM, Chung M, Tawil R (2013). Coats syndrome in facioscapulohumeral dystrophy type 1: frequency and D4Z4 contraction size. Neurology, 80(13):1247-50.
  9. Das M, Moxley RT, 3rd, Hilbert JE, Martens WB, Letren L, Greene MH, Gadalla SM (2012). . Correlates of tumor development in patients with myotonic dystrophy. J Neurol., 259(10):2161-2166.
  10. Franc DT, Muetzel RL, Robinson PR, Rodriguez CP, Dalton JC, Naughton CE, Mueller BA, Wozniak JR, Lim KO, Day JW (2012). Cerebral and muscle MRI abnormalities in myotonic dystrophy. Neurolmuscular Disorders, 22(6):483-91.
  11. Heatwole C, Bode R, Johnson N, Quinn C, Martens W, McDermott MP, Rothrock N, Thornton C, Vickrey B, Victorson D, Moxley R, 3rd (2012). Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1). Neurology, 79(4):348-57.
  12. Hilbert JE, Kissel JT, Luebbe EA, Martens WB, McDermott MP, Sanders DB, Tawil R, Thornton CA, Moxley RT, 3rd (2012). 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). Registry Scientific Advisory Committee. Contemporary Clinical Trials, 33(2):302-11.
  13. Nieto R, Raichle KA, Jensen MP, Miro J (2012) .Changes in pain-related beliefs, coping, and catastrophizing predict changes in pain intensity, pain interference, and psychological functioning in individuals with myotonic muscular dystrophy and facioscapulohumeral dystrophy. Clin J Pain, 28(1):47-54.
  14. Gadalla SM, Lund M, Pfeiffer RM, Gortz S, Mueller CM, Moxley RT, 3rd, Kristinsson SY, Bjorkholm M, Shebl FM, Hilbert JE, Landgren O, Wohlfahrt J, Melbye M, Greene MH (2011). Cancer risk among patients with myotonic muscular dystrophy. JAMA, 306(22):2480-2486.
  15. Heatwole CR, Eichinger KJ, Friedman DI, Hilbert JE, Jackson CE, Logigian EL, Martens WB, McDermott MP, Pandya SK, Quinn C, Smirnow AM, Thornton CA, Moxley RT, 3rd (2011). Open-Label Trial of Recombinant Human Insulin-like Growth Factor 1/Recombinant Human Insulin-like Growth Factor Binding Protein 3 in Myotonic Dystrophy Type 1. Arch Neurol, 68(1):37-44.
  16. Prendergast P, Magalhaes S, Campbell C (2010). Congenital myotonic dystrophy in a national registry. Paediatr Child Health, 15(8):514-8.
  17. Miro J, Raichle KA, Carter GT, O'Brien SA, Abresch RT, McDonald CM, Jensen MP (2009). Impact of biopsychosocial factors on chronic pain in persons with myotonic and facioscapulohumeral muscular dystrophy. Am J Hosp Palliat Care, 26(4):308-319.
  18. Mueller CM, Hilbert JE, Martens WB, Thornton CA, Moxley RT, Greene MH (2009). Hypothesis: neoplasms in myotonic dystrophy. Cancer Causes Control, 20(10):2009-2020.
  19. Ciafaloni E, Mignot E, Sansone V, Hilbert JE, Lin L, Lin X, Liu LC, Pigeon WR, Perlis ML, Thornton CA (2008). The hypocretin neurotransmission system in myotonic dystrophy type 1. Neurology, 70(3):226-230.
  20. Jensen MP, Hoffman AJ, Stoelb BL, Abresch RT, Carter GT, McDonald CM (2008). Chronic pain in persons with myotonic dystrophy and facioscapulohumeral dystrophy. Arch Phys Med Rehabil, 89(2):320-328.
  21. Osborne RJ, Welle S, Venance SL, Thornton CA, Tawil R (2007). Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. Neurology, 68:569-577.
  22. Ciafaloni E, Pressman EK, Loi AM, Smirnow AM, Guntrum DJ, Dilek N, Tawil R (2006). Pregnancy and birth outcomes in women with facioscapulohumeral muscular dystrophy. Neurology, 67(10):1887-9.
  23. Lin X, Miller JW, Mankodi A, Kanadia RN, Yuan Y, Moxley RT, Swanson MS, Thornton CA (2006). Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Human Molecular Genetics, 15(13):2087-2097.