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Patient-reported study of the impact of pediatric-onset myotonic dystrophy.

Hunter M, Ekstrom AB, Campbell C, Hung M, Bounsanga J, Bates K, Adams HR, Luebbe E, Moxley RT 3rd, Heatwole C, Johnson NE.

Muscle Nerve. 2019 Jul 12. doi: 10.1002/mus.26632. [Epub ahead of print]


Survival patterns and cancer determinants in families with myotonic dystrophy type 1.

Best AF, Hilbert JE, Wood L, Martens WB, Nikolenko N, Marini-Bettolo C, Lochmüller H, Rosenberg PS, Moxley RT 3rd, Greene MH, Gadalla SM.

Eur J Neurol. 2019 Jan;26(1):58-65. doi: 10.1111/ene.13763. Epub 2018 Sep 16.


Author response: High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2.

Hilbert JE, Thornton CA, Moxley RT 3rd.

Neurology. 2018 Apr 24;90(17):814. doi: 10.1212/WNL.0000000000005370. No abstract available.


Health profile of a cohort of adults with Duchenne muscular dystrophy.

Pandya S, James KA, Westfield C, Thomas S, Fox DJ, Ciafaloni E, Moxley RT.

Muscle Nerve. 2018 Aug;58(2):219-223. doi: 10.1002/mus.26129. Epub 2018 Mar 30.


High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2.

Hilbert JE, Barohn RJ, Clemens PR, Luebbe EA, Martens WB, McDermott MP, Parkhill AL, Tawil R, Thornton CA, Moxley RT 3rd; National Registry Scientific Advisory Committee/Investigators.

Neurology. 2017 Sep 26;89(13):1348-1354. doi: 10.1212/WNL.0000000000004420. Epub 2017 Aug 30.


Pigmentation phenotype, photosensitivity and skin neoplasms in patients with myotonic dystrophy.

Gadalla SM, Hilbert JE, Martens WB, Givens S, Moxley RT 3rd, Greene MH.

Eur J Neurol. 2017 May;24(5):713-718. doi: 10.1111/ene.13276. Epub 2017 Mar 20.


Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy.

Fitzgerald BP, Conn KM, Smith J, Walker A, Parkhill AL, Hilbert JE, Luebbe EA, Moxley RT III.

J Neurol. 2016 Dec;263(12):2528-2537. Epub 2016 Oct 12.


Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy.

Griggs RC, Miller JP, Greenberg CR, Fehlings DL, Pestronk A, Mendell JR, Moxley RT 3rd, King W, Kissel JT, Cwik V, Vanasse M, Florence JM, Pandya S, Dubow JS, Meyer JM.

Neurology. 2016 Nov 15;87(20):2123-2131. Epub 2016 Aug 26.


Practice guideline update summary: Corticosteroid treatment of Duchenne muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology.

Topaloglu H, Gloss D, Moxley RT 3rd, Ashwal S, Oskoui M.

Neurology. 2016 Jul 12;87(2):238. doi: 10.1212/01.wnl.0000489553.99227.18. No abstract available.


Patient-Reported Impact of Symptoms in Myotonic Dystrophy Type 2 (PRISM-2).

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 3rd.

Neurology. 2015 Dec 15;85(24):2136-46. doi: 10.1212/WNL.0000000000002225. Epub 2015 Nov 18.


Parent-reported multi-national study of the impact of congenital and childhood onset myotonic dystrophy.

Johnson NE, Ekstrom AB, Campbell C, Hung M, Adams HR, Chen W, Luebbe E, Hilbert J, Moxley RT 3rd, Heatwole CR.

Dev Med Child Neurol. 2016 Jul;58(7):698-705. doi: 10.1111/dmcn.12948. Epub 2015 Oct 28.


Myotonic dystrophy health index: Correlations with clinical tests and patient function.

Heatwole C, Bode R, Johnson NE, 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 3rd.

Muscle Nerve. 2016 Feb;53(2):183-90. doi: 10.1002/mus.24725. Epub 2015 Dec 29.


Quantifying cancer absolute risk and cancer mortality in the presence of competing events after a myotonic dystrophy diagnosis.

Gadalla SM, Pfeiffer RM, Kristinsson SY, Björkholm M, Hilbert JE, Moxley RT 3rd, Landgren O, Greene MH.

PLoS One. 2013 Nov 13;8(11):e79851. doi: 10.1371/journal.pone.0079851. eCollection 2013.


A novel computerized functional assessment for human immunodeficiency virus-associated neurocognitive disorder.

Rosenthal LS, Skolasky RL, Moxley RT 4th, Roosa HV, Selnes OA, Eschman A, McArthur JC, Sacktor N.

J Neurovirol. 2013 Oct;19(5):432-41. doi: 10.1007/s13365-013-0195-5. Epub 2013 Oct 1.


Splicing biomarkers of disease severity in myotonic dystrophy.

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.

Ann Neurol. 2013 Dec;74(6):862-72. doi: 10.1002/ana.23992.


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.

J Neurol. 2013 Oct;260(10):2497-504. doi: 10.1007/s00415-013-6993-0. Epub 2013 Jun 27.


Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.

Kalman L, Tarleton J, Hitch M, Hegde M, Hjelm N, Berry-Kravis E, Zhou L, Hilbert JE, Luebbe EA, Moxley RT 3rd, Toji L.

J Mol Diagn. 2013 Jul;15(4):518-25. doi: 10.1016/j.jmoldx.2013.03.008. Epub 2013 May 13.


The impact of congenital and childhood myotonic dystrophy on quality of life: a qualitative study of associated symptoms.

Johnson NE, Luebbe E, Eastwood E, Chin N, Moxley RT 3rd, Heatwole CR.

J Child Neurol. 2014 Jul;29(7):983-6. doi: 10.1177/0883073813484804. Epub 2013 Apr 22.


New insights about the incidence, multisystem manifestations, and care of patients with congenital myotonic dystrophy.

Hilbert JE, Johnson NE, Moxley RT 3rd.

J Pediatr. 2013 Jul;163(1):12-4. doi: 10.1016/j.jpeds.2013.02.022. Epub 2013 Mar 16. No abstract available.


A call for transparent reporting to optimize the predictive value of preclinical research.

Landis SC, Amara SG, Asadullah K, Austin CP, Blumenstein R, Bradley EW, Crystal RG, Darnell RB, Ferrante RJ, Fillit H, Finkelstein R, Fisher M, Gendelman HE, Golub RM, Goudreau JL, Gross RA, Gubitz AK, Hesterlee SE, Howells DW, Huguenard J, Kelner K, Koroshetz W, Krainc D, Lazic SE, Levine MS, Macleod MR, McCall JM, Moxley RT 3rd, Narasimhan K, Noble LJ, Perrin S, Porter JD, Steward O, Unger E, Utz U, Silberberg SD.

Nature. 2012 Oct 11;490(7419):187-91. doi: 10.1038/nature11556.


Correlates of tumor development in patients with myotonic dystrophy.

Das M, Moxley RT 3rd, Hilbert JE, Martens WB, Letren L, Greene MH, Gadalla SM.

J Neurol. 2012 Oct;259(10):2161-6. doi: 10.1007/s00415-012-6476-8. Epub 2012 May 23.


Cancer risk among patients with myotonic muscular dystrophy.

Gadalla SM, Lund M, Pfeiffer RM, Gørtz S, Mueller CM, Moxley RT 3rd, Kristinsson SY, Björkholm M, Shebl FM, Hilbert JE, Landgren O, Wohlfahrt J, Melbye M, Greene MH.

JAMA. 2011 Dec 14;306(22):2480-6. doi: 10.1001/jama.2011.1796.


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.

Contemp Clin Trials. 2012 Mar;33(2):302-11. doi: 10.1016/j.cct.2011.11.016. Epub 2011 Nov 26.


Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channel.

Tang ZZ, Yarotskyy V, Wei L, Sobczak K, Nakamori M, Eichinger K, Moxley RT, Dirksen RT, Thornton CA.

Hum Mol Genet. 2012 Mar 15;21(6):1312-24. doi: 10.1093/hmg/ddr568. Epub 2011 Dec 2.


Informed consent process for patient participation in rare disease registries linked to biorepositories.

Rubinstein YR, Groft SC, Chandros SH, Kaneshiro J, Karp B, Lockhart NC, Marshall PA, Moxley RT 3rd, Pollen GB, Miller VR, Schwartz J.

Contemp Clin Trials. 2012 Jan;33(1):5-11. doi: 10.1016/j.cct.2011.10.004. Epub 2011 Oct 24. Review. No abstract available.


Weekend high-dosage prednisone: a new option for treatment of Duchenne muscular dystrophy.

Moxley RT 3rd, Pandya S.

Neurology. 2011 Aug 2;77(5):416-7. doi: 10.1212/WNL.0b013e318227b272. Epub 2011 Jul 13. No abstract available.


A comparison of performance-based measures of function in HIV-associated neurocognitive disorders.

Gandhi NS, Skolasky RL, Peters KB, Moxley RT 4th, Creighton J, Roosa HV, Selnes OA, McArthur J, Sacktor N.

J Neurovirol. 2011 Apr;17(2):159-65. doi: 10.1007/s13365-011-0023-8. Epub 2011 Mar 25.


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.

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.

Arch Neurol. 2011 Jan;68(1):37-44. doi: 10.1001/archneurol.2010.227. Epub 2010 Sep 13.


Comparison of scales to evaluate the progression of HIV-associated neurocognitive disorder.

Gandhi NS, Moxley RT, Creighton J, Roosa HV, Skolasky RL, Selnes OA, McArthur J, Sacktor N.

HIV Ther. 2010 May;4(3):371-379.


Brain metabolism and cognitive impairment in HIV infection: a 3-T magnetic resonance spectroscopy study.

Mohamed MA, Barker PB, Skolasky RL, Selnes OA, Moxley RT, Pomper MG, Sacktor NC.

Magn Reson Imaging. 2010 Nov;28(9):1251-7. doi: 10.1016/j.mri.2010.06.007. Epub 2010 Aug 4.


Change in natural history of Duchenne muscular dystrophy with long-term corticosteroid treatment: implications for management.

Moxley RT 3rd, Pandya S, Ciafaloni E, Fox DJ, Campbell K.

J Child Neurol. 2010 Sep;25(9):1116-29. doi: 10.1177/0883073810371004. Epub 2010 Jun 25. Review.


Muscular dystrophy: new opportunities for diagnosis and treatment.

Babcock MA, Kostova FV, Moxley RT 3rd, Chamberlain JS, Maria BL.

J Child Neurol. 2010 Sep;25(9):1080-97. doi: 10.1177/0883073810371000. Epub 2010 Jun 17. No abstract available.


Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1.

Logigian EL, Martens WB, Moxley RT 4th, McDermott MP, Dilek N, Wiegner AW, Pearson AT, Barbieri CA, Annis CL, Thornton CA, Moxley RT 3rd.

Neurology. 2010 May 4;74(18):1441-8. doi: 10.1212/WNL.0b013e3181dc1a3a.


Evoked myotonia can be "dialed-up" by increasing stimulus train length in myotonic dystrophy type 1.

Logigian EL, Twydell P, Dilek N, Martens WB, Quinn C, Wiegner AW, Heatwole CR, Thornton CA, Moxley RT 3rd.

Muscle Nerve. 2010 Feb;41(2):191-6. doi: 10.1002/mus.21481.


Scaled-down genetic analysis of myotonic dystrophy type 1 and type 2.

Nakamori M, Sobczak K, Moxley RT 3rd, Thornton CA.

Neuromuscul Disord. 2009 Nov;19(11):759-62. doi: 10.1016/j.nmd.2009.07.012. Epub 2009 Aug 26.


Hypothesis: neoplasms in myotonic dystrophy.

Mueller CM, Hilbert JE, Martens W, Thornton CA, Moxley RT 3rd, Greene MH.

Cancer Causes Control. 2009 Dec;20(10):2009-20. doi: 10.1007/s10552-009-9395-y. Review.


Delayed diagnosis in duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).

Ciafaloni E, Fox DJ, Pandya S, Westfield CP, Puzhankara S, Romitti PA, Mathews KD, Miller TM, Matthews DJ, Miller LA, Cunniff C, Druschel CM, Moxley RT.

J Pediatr. 2009 Sep;155(3):380-5. doi: 10.1016/j.jpeds.2009.02.007. Epub 2009 Apr 25.


Treatment options for Duchenne muscular dystrophy.

Ciafaloni E, Moxley RT.

Curr Treat Options Neurol. 2008 Mar;10(2):86-93.


American College of Chest Physicians consensus statement on the respiratory and related management of patients with Duchenne muscular dystrophy undergoing anesthesia or sedation.

Birnkrant DJ, Panitch HB, Benditt JO, Boitano LJ, Carter ER, Cwik VA, Finder JD, Iannaccone ST, Jacobson LE, Kohn GL, Motoyama EK, Moxley RT, Schroth MK, Sharma GD, Sussman MD.

Chest. 2007 Dec;132(6):1977-86.


Computerized hand grip myometry reliably measures myotonia and muscle strength in myotonic dystrophy (DM1).

Moxley RT 3rd, Logigian EL, Martens WB, Annis CL, Pandya S, Moxley RT 4th, Barbieri CA, Dilek N, Wiegner AW, Thornton CA.

Muscle Nerve. 2007 Sep;36(3):320-8.


Towards an integrative approach to the management of myotonic dystrophy type 1.

Gagnon C, Noreau L, Moxley RT, Laberge L, Jean S, Richer L, Perron M, Veillette S, Mathieu J.

J Neurol Neurosurg Psychiatry. 2007 Aug;78(8):800-6. Epub 2007 Apr 20. No abstract available.


The nondystrophic myotonias.

Heatwole CR, Moxley RT 3rd.

Neurotherapeutics. 2007 Apr;4(2):238-51. Review.


Severity, type, and distribution of myotonic discharges are different in type 1 and type 2 myotonic dystrophy.

Logigian EL, Ciafaloni E, Quinn LC, Dilek N, Pandya S, Moxley RT 3rd, Thornton CA.

Muscle Nerve. 2007 Apr;35(4):479-85.


Laboratory abnormalities in ambulatory patients with myotonic dystrophy type 1.

Heatwole CR, Miller J, Martens B, Moxley RT 3rd.

Arch Neurol. 2006 Aug;63(8):1149-53.


Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy.

Lin X, Miller JW, Mankodi A, Kanadia RN, Yuan Y, Moxley RT, Swanson MS, Thornton CA.

Hum Mol Genet. 2006 Jul 1;15(13):2087-97. Epub 2006 May 22.


Quantitative analysis of the "warm-up" phenomenon in myotonic dystrophy type 1.

Logigian EL, Blood CL, Dilek N, Martens WB, Moxley RT 4th, Wiegner AW, Thornton CA, Moxley RT 3rd.

Muscle Nerve. 2005 Jul;32(1):35-42.


Practice parameter: corticosteroid treatment of Duchenne dystrophy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.

Moxley RT 3rd, Ashwal S, Pandya S, Connolly A, Florence J, Mathews K, Baumbach L, McDonald C, Sussman M, Wade C; Quality Standards Subcommittee of the American Academy of Neurology; Practice Committee of the Child Neurology Society.

Neurology. 2005 Jan 11;64(1):13-20.


Myotonic dystrophy type 2 and related myotonic disorders.

Meola G, Moxley RT 3rd.

J Neurol. 2004 Oct;251(10):1173-82. Review.


Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons.

Jiang H, Mankodi A, Swanson MS, Moxley RT, Thornton CA.

Hum Mol Genet. 2004 Dec 15;13(24):3079-88. Epub 2004 Oct 20.


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