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47. Heatwole C, Luebbe E, Rosero S, Eichinger K, Martens W, Hilbert J, Dekdebrun J, Dilek N, Zizzi C, Johnson N, Puwanant A, Tawil R, Schifitto G, Beck CA, Richeson JF, Zareba W, Thornton C, McDermott MP, Moxley R 3rd. Mexiletine in myotonic dystrophy type-1: A randomized, double-blind, placebo-controlled trial; Neurology. 2020 Oct 12:10.

46. Hunter M, Ekstrom AB, Campbell C, Hung M, Bounsanga J, Bates K, Adams HR, Luebbe E, Moxley RT, 3rd, Heatwole C, Johnson NE. Patient-reported Study of the Impact of Pediatric-Onset Myotonic Dystrophy. Muscle Nerve. 2019 Oct;60(4):392-399.

45. Higgs C, Hilbert JE, Wood L, Martens WB, Marini-Bettolo C, Nikolenko N, Alsaggaf R, Lochmüller H, Moxley RT, Greene MH, Wang Y, Gadalla SM. Reproductive Cancer Risk Factors in Women With Myotonic Dystrophy (DM): Survey Data From the US and UK DM Registries. Front Neurol. 2019 Oct 11;10:1071.

44. Hilbert JE, Wood L, Martens WB, Nikolenko N, Marini-Bettolo C, Lochmüller H, Rosenberg PS, Moxley RT 3rd, Greene MH, Gadalla SM. Survival patterns and cancer determinants in families with myotonic dystrophy type 1.Best AF. Eur J Neurol. 2019 Jan;26(1):58-65.

43. Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Manera JAD, Dogan C, El Sherif R, Fossati B, Graham C, Hilbert J, Kastreva K, Kimura E, Korngut L, Kostera-Pruszczyk A, Lindberg C, Lindvall B, Luebbe E, Lusakowska A, Mazanec R, Meola G, Orlando L, Takahashi MP, Peric S, Puymirat J, Rakocevic-Stojanovic V, Rodrigues M, Roxburgh R, Schoser B, Segovia S, Shatillo A, Thiele S, Tournev I, van Engelen B, Vohanka S, Lochmüller H. Orphanet J Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. Orphanet J Rare Dis. 2018 Sep 5;13(1):155

42. Heatwole C, Johnson N, Dekdebrun J, Dilek N, Eichinger K, Hilbert J, Luebbe E, Martens W, Mcdermott MP, Thornton C, Moxley R. Myotonic dystrophy patient preferences in patient-reported outcome measures. Muscle Nerve. 2018 Volume58, Issue1, Pages 49-55.

41. Hilbert JE, Barohn RJ, Clemens PR, Luebbe EA, Martens WB, McDermott MP, Parkhill AL, Tawil R, Thornton CA, Moxley RT, III. High frequency of gastrointestinal manifestation in myotonic dystrophy type 1 and type 2.  Neurology. 2017 Sep 26;89(13):1348-1354.

40. Pucillo EM, Dibella DL, Hung M, Bounsanga J, Crockett B, Dixon M, Butterfield RJ, Campbell C, Johnson NE. Physical function and mobility in children with congenital myotonic dystrophy.  Muscle Nerve. 2017;56(2):224-9.

39. Battalio SL, Silverman AM, Ehde DM, Amtmann D, Edwards KA, Jensen MP. Resilience and Function in Adults With Physical Disabilities: An Observational Study.  Arch Phys Med Rehabil. 2017;98(6):1158-64. 

38. Gadalla SM, Hilbert JE, Martens WB, Givens S, Moxley RT, 3rd, Greene MH. Pigmentation phenotype, photosensitivity and skin neoplasms in patients with myotonic dystrophy. Eur J Neurol. 2017;24(5):713-8.

37. Wagner SD, Struck AJ, Gupta R, Farnsworth DR, Mahady AE, Eichinger K, Thornton CA, Wang ET, Berglund JA. Dose-Dependent Regulation of Alternative Splicing by MBNL Proteins Reveals Biomarkers for Myotonic Dystrophy. PLoS Genet. 2016 Sep 28;12(9)

36. Fitzgerald BP, Conn KM, Smith J, Walker A, Parkhill AL, Hilbert JE, Luebbe EA, Moxley RT, III. Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy.  J Neurol. 2016 Dec;263(12):2528-2537.

35. Johnson NE, Butterfield R, Berggren K, Hung M, Chen W, DiBella D, Dixon M, Hayes H, Pucillo E, Bounsanga J, Heatwole C, Campbell C. Disease burden and functional outcomes in congenital myotonic dystrophy: A cross-sectional study. Neurology. 2016 Jul 12;87(2):160-7

34. Smith AE, Molton IR, Jensen MP. Self-reported incidence and age of onset of chronic comorbid medical conditions in adults aging with long-term physical disability. Disabil Health J. 2016 Jul;9(3):533-8. doi: 10.1016/j.dhjo.2016.02.002. Epub 2016 Feb 18.

33. Jensen MP, Smith AE, Alschuler KN, Gillanders DT, Amtmann D, Molton IR. The role of pain acceptance on function in individuals with disabilities: a longitudinal study. Pain. 2016 Jan;157(1):247-54.

32. Johnson NE, Hung M, Nasser E, Hagerman KA, Chen W, Ciafaloni E, Heatwole CR (2015). The Impact of pregnancy on myotonic dystrophy: A Registry-Based Study.  Journal of Neuromuscular Diseases. 2015; 2(4):447-452.

31. Heatwole C, Johnson N, Bode R, Dekdebrun J, Dilek N, Hilbert JE, Luebbe E, Martens W, McDermott MP, Quinn C, Rothrock N, Thornton C, Vickrey BG, Victorson D, Moxley RT. Patient-Reported Impact of Symptoms in Myotonic Dystrophy Type 2 (PRISM-2). Neurology. 2015 Dec 15;85(24)2136-46.

30. Johnson NE, Ekstrom AB, Campbell C, Hung M, Adams HR, Chen W, Luebbe E, Hilbert J, Moxley RT, Heatwole CR (2015). Parent-reported multi-national study of the impact of congenital and childhood onset myotonic dystrophy. Developmental Medicine and Child Neurology. 2016;58(7):698-705.

29. Heatwole C, Bode R, Johnson N, Dekdebrun J, Dilek N, Eichinger K, Hilbert JE, Logigian E, Luebbe E, Martens W, McDermott MP, Pandya S, Puwanant A, Rothrock N, Thornton C, Vickrey BG, Victorson D, Moxley RT. Myotonic dystrophy health index: Correlations with clinical tests and patient function. Muscle Nerve. 2016 Feb;53(2):183-90.

28. Miró J, Gertz KJ, Carter GT, Jensen MP. Pain location and intensity impacts function in persons with myotonic type 1 and facioscapulohumeral dystrophy with chronic pain. Muscle Nerve. 2014 Jun;49(6):900-5.

27. Smith AE, McMullen K, Jensen MP, Carter GT, Molton IR. Symptom Burden in Persons with Myotonic and Facioscapulohumeral Muscular Dystrophy. Am J Phys Med Rehabil. 2014 May;93(5):387-95

26. Jensen MP, Smith AE, Bombardier CH, Yorkston KM, Miró J, Molton IR. Social support, depression, and physical disability: age and diagnostic group effects. Disabil Health J. 2014 Apr;7(2):164-72.

25. Molton IR, Terrill AL, Smith AE, Yorkston KM, Alschuler KN, Ehde DM, Jensen MP. Modeling secondary health conditions in adults aging with physical disability. J Aging Health. 2014 Apr;26(3):335-59.

24.  Nakamori M, Sobczak K, Puwanant A, Welle S, Eichinger K, Pandya S, Dekdebrun J, Heatwole CR, McDermott MP, Chen T, Cline M, Tawil R, Osborne RJ, Wheeler TM, Swanson MS, Moxley RT, 3rd, Thornton CA. Splicing biomarkers of disease severity in myotonic dystrophy. Ann Neurol. 2013;74(6):862-72.  

23. 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).

22. 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, 2014 Jun;49(6):906-14; [Epub ahead of print; 2013 Oct 19.]

21. 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.

20. 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.

19. Rosenberg DE, Bombardier CH, Artherholt S, Jensen MP, Motl RW. Self-reported depression and physical activity in adults with mobility impairments.  Arch Phys Med Rehabil. 2013 Apr;94(4):731-6. 

18. Statland JM, Tawil R. Risk of functional impairment in facioscapulohumeral muscular dystrophy. Muscle Nerve, 2014;49(4):520-7.

17. 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.

16. Alschuler KN, Jensen MP, Goetz MC, Smith AE, Verrall AM, Molton IR. Effects of pain and fatigue on physical functioning and depression in persons with muscular dystrophy. Disabil Health J. 2012 Oct;5(4):277-83  

15. 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.

14. 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. Neuromuscular Disorders, 22(6):483-91.

13. 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,  Registry Scientific Advisory Committee.  (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).  Contemporary Clinical Trials, 33(2):302-11.

11. 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.

10. 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.

9. 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.

8. Prendergast P, Magalhaes S, Campbell C (2010). Congenital myotonic dystrophy in a national registry. Paediatr Child Health, 15(8):514-8.

7. 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.

6. 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.

5. 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.

4. 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.

3. 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.

2. 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.

1. 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.