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Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function.
Hoffman EP, Schwartz BD, Mengle-Gaw LJ, Smith EC, Castro D, Mah JK, McDonald CM, Kuntz NL, Finkel RS, Guglieri M, Bushby K, Tulinius M, Nevo Y, Ryan MM, Webster R, Smith AL, Morgenroth LP, Arrieta A, Shimony M, Siener C, Jaros M, Shale P, McCall JM, Nagaraju K, van den Anker J, Conklin LS, Cnaan A, Gordish-Dressman H, Damsker JM, Clemens PR; Cooperative International Neuromuscular Research Group. Hoffman EP, et al. Among authors: finkel rs. Neurology. 2019 Sep 24;93(13):e1312-e1323. doi: 10.1212/WNL.0000000000008168. Epub 2019 Aug 26. Neurology. 2019. PMID: 31451516 Free PMC article. Clinical Trial.
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management.
Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A, Kinnett K, McDonald C, Pandya S, Poysky J, Shapiro F, Tomezsko J, Constantin C; DMD Care Considerations Working Group. Bushby K, et al. Lancet Neurol. 2010 Jan;9(1):77-93. doi: 10.1016/S1474-4422(09)70271-6. Epub 2009 Nov 27. Lancet Neurol. 2010. PMID: 19945913 Review.
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.
Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Howard MT, Sampson JB, Swoboda KJ, Bromberg MB, Mendell JR, Taylor LE, Anderson CB, Pestronk A, Florence JM, Connolly AM, Mathews KD, Wong B, Finkel RS, Bonnemann CG, Day JW, McDonald C; United Dystrophinopathy Project Consortium; Weiss RB. Flanigan KM, et al. Among authors: finkel rs. Hum Mutat. 2011 Mar;32(3):299-308. doi: 10.1002/humu.21426. Hum Mutat. 2011. PMID: 21972111 Free PMC article.
LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy.
Flanigan KM, Ceco E, Lamar KM, Kaminoh Y, Dunn DM, Mendell JR, King WM, Pestronk A, Florence JM, Mathews KD, Finkel RS, Swoboda KJ, Gappmaier E, Howard MT, Day JW, McDonald C, McNally EM, Weiss RB; United Dystrophinopathy Project. Flanigan KM, et al. Among authors: finkel rs. Ann Neurol. 2013 Apr;73(4):481-8. doi: 10.1002/ana.23819. Epub 2013 Feb 20. Ann Neurol. 2013. PMID: 23440719 Free PMC article.
The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study.
McDonald CM, Henricson EK, Abresch RT, Florence J, Eagle M, Gappmaier E, Glanzman AM; PTC124-GD-007-DMD Study Group; Spiegel R, Barth J, Elfring G, Reha A, Peltz SW. McDonald CM, et al. Muscle Nerve. 2013 Sep;48(3):357-68. doi: 10.1002/mus.23905. Epub 2013 Jul 17. Muscle Nerve. 2013. PMID: 23674289 Free PMC article. Clinical Trial.
The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study.
McDonald CM, Henricson EK, Abresch RT, Florence JM, Eagle M, Gappmaier E, Glanzman AM; PTC124-GD-007-DMD Study Group; Spiegel R, Barth J, Elfring G, Reha A, Peltz S. McDonald CM, et al. Muscle Nerve. 2013 Sep;48(3):343-56. doi: 10.1002/mus.23902. Epub 2013 Jun 26. Muscle Nerve. 2013. PMID: 23681930 Free PMC article. Clinical Trial.
Ataluren treatment of patients with nonsense mutation dystrophinopathy.
Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Lee Sweeney H, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'donnell MW, Peltz SW, Mcdonald CM; PTC124-GD-007-DMD STUDY GROUP. Bushby K, et al. Muscle Nerve. 2014 Oct;50(4):477-87. doi: 10.1002/mus.24332. Muscle Nerve. 2014. PMID: 25042182 Free PMC article. Clinical Trial.
264 results