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Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241.
Ann Neurol. 2018.
PMID: 29691892
Free PMC article.
Congenital myopathies and muscular dystrophies.
Gilbreath HR, Castro D, Iannaccone ST.
Gilbreath HR, et al.
Neurol Clin. 2014 Aug;32(3):689-703, viii. doi: 10.1016/j.ncl.2014.04.006.
Neurol Clin. 2014.
PMID: 25037085
Review.
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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.
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