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High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trial.
Lewis RA, McDermott MP, Herrmann DN, Hoke A, Clawson LL, Siskind C, Feely SM, Miller LJ, Barohn RJ, Smith P, Luebbe E, Wu X, Shy ME; Muscle Study Group. Lewis RA, et al. Among authors: luebbe e. JAMA Neurol. 2013 Aug;70(8):981-7. doi: 10.1001/jamaneurol.2013.3178. JAMA Neurol. 2013. PMID: 23797954 Free PMC article. Clinical Trial.
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. Among authors: luebbe ea. 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.
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. Among authors: luebbe ea. 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.
Myotonic Dystrophy Health Index: initial evaluation of a disease-specific outcome measure.
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. Heatwole C, et al. Among authors: luebbe e. Muscle Nerve. 2014 Jun;49(6):906-14. doi: 10.1002/mus.24097. Muscle Nerve. 2014. PMID: 24142420 Free PMC article.
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. Heatwole C, et al. Among authors: luebbe e. Muscle Nerve. 2016 Feb;53(2):183-90. doi: 10.1002/mus.24725. Epub 2015 Dec 29. Muscle Nerve. 2016. PMID: 26044513 Free PMC article.
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. Heatwole C, et al. Among authors: luebbe e. Neurology. 2015 Dec 15;85(24):2136-46. doi: 10.1212/WNL.0000000000002225. Epub 2015 Nov 18. Neurology. 2015. PMID: 26581301 Free PMC article.
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. Hilbert JE, et al. Among authors: luebbe ea. Neurology. 2017 Sep 26;89(13):1348-1354. doi: 10.1212/WNL.0000000000004420. Epub 2017 Aug 30. Neurology. 2017. PMID: 28855409 Free PMC article.
Myotonic dystrophy patient preferences in patient-reported outcome measures.
Heatwole C, Johnson N, Dekdebrun J, Dilek N, Eichinger K, Hilbert J, Luebbe E, Martens W, Mcdermott MP, Thornton C, Moxley R. Heatwole C, et al. Among authors: luebbe e. Muscle Nerve. 2018 Jan 12. doi: 10.1002/mus.26066. Online ahead of print. Muscle Nerve. 2018. PMID: 29328504
Patient Reported Impact of Symptoms in Spinal Muscular Atrophy (PRISM-SMA).
Mongiovi P, Dilek N, Garland C, Hunter M, Kissel JT, Luebbe E, McDermott MP, Johnson N, Heatwole C. Mongiovi P, et al. Among authors: luebbe e. Neurology. 2018 Sep 25;91(13):e1206-e1214. doi: 10.1212/WNL.0000000000006241. Epub 2018 Aug 24. Neurology. 2018. PMID: 30143566 Free PMC article.
25 results