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Items: 1 to 20 of 110

1.

Correction of the Exon 2 Duplication in DMD Myoblasts by a Single CRISPR/Cas9 System.

Lattanzi A, Duguez S, Moiani A, Izmiryan A, Barbon E, Martin S, Mamchaoui K, Mouly V, Bernardi F, Mavilio F, Bovolenta M.

Mol Ther Nucleic Acids. 2017 Jun 16;7:11-19. doi: 10.1016/j.omtn.2017.02.004. Epub 2017 Feb 10.

2.

MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India.

Deepha S, Vengalil S, Preethish-Kumar V, Polavarapu K, Nalini A, Gayathri N, Purushottam M.

BMC Med Genet. 2017 Jun 13;18(1):67. doi: 10.1186/s12881-017-0431-6.

3.

Serum Creatinine Distinguishes Duchenne Muscular Dystrophy from Becker Muscular Dystrophy in Patients Aged ≤3 Years: A Retrospective Study.

Wang L, Chen M, He R, Sun Y, Yang J, Xiao L, Cao J, Zhang H, Zhang C.

Front Neurol. 2017 May 8;8:196. doi: 10.3389/fneur.2017.00196. eCollection 2017.

4.

Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy: A Territory Wide Collaborative Study in Hong Kong.

Chan SHS, Lo IFM, Cherk SWW, Cheng WW, Fung ELW, Yeung WL, Ngan M, Lee WC, Kwong L, Wong SN, Ma CK, Tai SM, Ng GSF, Wu SP, Wong VCN.

Child Neurol Open. 2015 May 26;2(2):2329048X15585345. doi: 10.1177/2329048X15585345. eCollection 2015 Apr-Jun.

5.
6.

Intracellular Distribution and Nuclear Activity of Antisense Oligonucleotides After Unassisted Uptake in Myoblasts and Differentiated Myotubes In Vitro.

González-Barriga A, Nillessen B, Kranzen J, van Kessel IDG, Croes HJE, Aguilera B, de Visser PC, Datson NA, Mulders SAM, van Deutekom JCT, Wieringa B, Wansink DG.

Nucleic Acid Ther. 2017 Jun;27(3):144-158. doi: 10.1089/nat.2016.0641. Epub 2017 Apr 4.

7.

DMDtoolkit: a tool for visualizing the mutated dystrophin protein and predicting the clinical severity in DMD.

Zhou J, Xin J, Niu Y, Wu S.

BMC Bioinformatics. 2017 Feb 2;18(1):87. doi: 10.1186/s12859-017-1504-4.

8.

Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort.

Vengalil S, Preethish-Kumar V, Polavarapu K, Mahadevappa M, Sekar D, Purushottam M, Thomas PT, Nashi S, Nalini A.

J Clin Neurol. 2017 Jan;13(1):91-97. doi: 10.3988/jcn.2017.13.1.91.

9.

Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy.

Nghiem PP, Bello L, Balog-Alvarez C, López SM, Bettis A, Barnett H, Hernandez B, Schatzberg SJ, Piercy RJ, Kornegay JN.

Mamm Genome. 2017 Apr;28(3-4):106-113. doi: 10.1007/s00335-016-9675-2. Epub 2016 Dec 27.

10.

Genome Editing Gene Therapy for Duchenne Muscular Dystrophy.

Hotta A.

J Neuromuscul Dis. 2015 Sep 22;2(4):343-355.

11.

Prevalence and Genetic Profile of Duchene and Becker Muscular Dystrophy in Puerto Rico.

Ramos E, Conde JG, Berrios RA, Pardo S, Gómez O, Mas Rodríguez MF.

J Neuromuscul Dis. 2016 May 27;3(2):261-266.

12.

Current Translational Research and Murine Models For Duchenne Muscular Dystrophy.

Rodrigues M, Echigoya Y, Fukada SI, Yokota T.

J Neuromuscul Dis. 2016 Mar 3;3(1):29-48.

13.

Digital Droplet PCR for the Absolute Quantification of Exon Skipping Induced by Antisense Oligonucleotides in (Pre-)Clinical Development for Duchenne Muscular Dystrophy.

Verheul RC, van Deutekom JC, Datson NA.

PLoS One. 2016 Sep 9;11(9):e0162467. doi: 10.1371/journal.pone.0162467. eCollection 2016.

14.

Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice.

Marquis-Nicholson R, Prosser D, Love JM, Love DR.

Microarrays (Basel). 2013 Mar 27;2(2):51-62. doi: 10.3390/microarrays2020051.

15.

Long-Term Efficacy, Safety, and Pharmacokinetics of Drisapersen in Duchenne Muscular Dystrophy: Results from an Open-Label Extension Study.

Goemans NM, Tulinius M, van den Hauwe M, Kroksmark AK, Buyse G, Wilson RJ, van Deutekom JC, de Kimpe SJ, Lourbakos A, Campion G.

PLoS One. 2016 Sep 2;11(9):e0161955. doi: 10.1371/journal.pone.0161955. eCollection 2016.

16.

Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies.

Bello L, Campadello P, Barp A, Fanin M, Semplicini C, Sorarù G, Caumo L, Calore C, Angelini C, Pegoraro E.

Sci Rep. 2016 Sep 1;6:32439. doi: 10.1038/srep32439.

17.

Genome-wide association study to identify potential genetic modifiers in a canine model for Duchenne muscular dystrophy.

Brinkmeyer-Langford C, Balog-Alvarez C, Cai JJ, Davis BW, Kornegay JN.

BMC Genomics. 2016 Aug 22;17:665. doi: 10.1186/s12864-016-2948-z.

18.

Current and emerging treatment strategies for Duchenne muscular dystrophy.

Mah JK.

Neuropsychiatr Dis Treat. 2016 Jul 22;12:1795-807. doi: 10.2147/NDT.S93873. eCollection 2016. Review.

19.

Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26.

Meregalli M, Maciotta S, Angeloni V, Torrente Y.

BMC Med Genet. 2016 Aug 11;17(1):55. doi: 10.1186/s12881-016-0318-y.

20.

DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study.

Bello L, Morgenroth LP, Gordish-Dressman H, Hoffman EP, McDonald CM, Cirak S; CINRG investigators.

Neurology. 2016 Jul 26;87(4):401-9. doi: 10.1212/WNL.0000000000002891. Epub 2016 Jun 24.

PMID:
27343068

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