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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: mcdonald c. 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: mcdonald c. 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.
Development of the Performance of the Upper Limb module for Duchenne muscular dystrophy.
Mayhew A, Mazzone ES, Eagle M, Duong T, Ash M, Decostre V, Vandenhauwe M, Klingels K, Florence J, Main M, Bianco F, Henrikson E, Servais L, Campion G, Vroom E, Ricotti V, Goemans N, McDonald C, Mercuri E; Performance of the Upper Limb Working Group. Mayhew A, et al. Among authors: mcdonald c. Dev Med Child Neurol. 2013 Nov;55(11):1038-45. doi: 10.1111/dmcn.12213. Epub 2013 Aug 1. Dev Med Child Neurol. 2013. PMID: 23902233 Free article. Review.
Discovery of serum protein biomarkers in the mdx mouse model and cross-species comparison to Duchenne muscular dystrophy patients.
Hathout Y, Marathi RL, Rayavarapu S, Zhang A, Brown KJ, Seol H, Gordish-Dressman H, Cirak S, Bello L, Nagaraju K, Partridge T, Hoffman EP, Takeda S, Mah JK, Henricson E, McDonald C. Hathout Y, et al. Among authors: mcdonald c. Hum Mol Genet. 2014 Dec 15;23(24):6458-69. doi: 10.1093/hmg/ddu366. Epub 2014 Jul 15. Hum Mol Genet. 2014. PMID: 25027324 Free PMC article.
Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy.
Lynn S, Aartsma-Rus A, Bushby K, Furlong P, Goemans N, De Luca A, Mayhew A, McDonald C, Mercuri E, Muntoni F, Pohlschmidt M, Verschuuren J, Voit T, Vroom E, Wells DJ, Straub V. Lynn S, et al. Among authors: mcdonald c. Neuromuscul Disord. 2015 Jan;25(1):96-105. doi: 10.1016/j.nmd.2014.09.003. Epub 2014 Sep 11. Neuromuscul Disord. 2015. PMID: 25307856 No abstract available.
Large-scale serum protein biomarker discovery in Duchenne muscular dystrophy.
Hathout Y, Brody E, Clemens PR, Cripe L, DeLisle RK, Furlong P, Gordish-Dressman H, Hache L, Henricson E, Hoffman EP, Kobayashi YM, Lorts A, Mah JK, McDonald C, Mehler B, Nelson S, Nikrad M, Singer B, Steele F, Sterling D, Sweeney HL, Williams S, Gold L. Hathout Y, et al. Among authors: mcdonald c. Proc Natl Acad Sci U S A. 2015 Jun 9;112(23):7153-8. doi: 10.1073/pnas.1507719112. Epub 2015 May 26. Proc Natl Acad Sci U S A. 2015. PMID: 26039989 Free PMC article.
Serum pharmacodynamic biomarkers for chronic corticosteroid treatment of children.
Hathout Y, Conklin LS, Seol H, Gordish-Dressman H, Brown KJ, Morgenroth LP, Nagaraju K, Heier CR, Damsker JM, van den Anker JN, Henricson E, Clemens PR, Mah JK, McDonald C, Hoffman EP. Hathout Y, et al. Among authors: mcdonald c. Sci Rep. 2016 Aug 17;6:31727. doi: 10.1038/srep31727. Sci Rep. 2016. PMID: 27530235 Free PMC article.
Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy.
Hogarth MW, Houweling PJ, Thomas KC, Gordish-Dressman H, Bello L; Cooperative International Neuromuscular Research Group (CINRG); Pegoraro E, Hoffman EP, Head SI, North KN. Hogarth MW, et al. Nat Commun. 2017 Jan 31;8:14143. doi: 10.1038/ncomms14143. Nat Commun. 2017. PMID: 28139640 Free PMC article.
3,084 results